Mutagenetix > Incidental Mutation

Incidental Mutation 'R1739:Nav1'

200069

Institutional Source

Beutler Lab

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik

MMRRC Submission

039771-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R1739 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135362318-135615843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135512465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

Ref Sequence

ENSEMBL: ENSMUSP00000140322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040599] [ENSMUST00000067414] [ENSMUST00000190298]

AlphaFold

Q8CH77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040599
AA Change: D198E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: D198E

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC
low complexity region	739	749	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	892	913	N/A	INTRINSIC
low complexity region	975	989	N/A	INTRINSIC
coiled coil region	1070	1105	N/A	INTRINSIC
low complexity region	1179	1210	N/A	INTRINSIC
low complexity region	1260	1281	N/A	INTRINSIC
low complexity region	1296	1304	N/A	INTRINSIC
coiled coil region	1328	1360	N/A	INTRINSIC
AAA	1548	1702	3.16e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067414
AA Change: D198E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: D198E

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC
low complexity region	739	749	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	892	913	N/A	INTRINSIC
low complexity region	975	989	N/A	INTRINSIC
coiled coil region	1070	1105	N/A	INTRINSIC
low complexity region	1179	1210	N/A	INTRINSIC
low complexity region	1260	1281	N/A	INTRINSIC
low complexity region	1296	1304	N/A	INTRINSIC
coiled coil region	1328	1360	N/A	INTRINSIC
AAA	1548	1702	3.16e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000067468

SMART Domains

Protein: ENSMUSP00000067952
Gene: ENSMUSG00000054412

Domain	Start	End	E-Value	Type
low complexity region	118	146	N/A	INTRINSIC
transmembrane domain	164	181	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190298
AA Change: D198E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: D198E

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC
low complexity region	739	749	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	892	913	N/A	INTRINSIC
low complexity region	975	989	N/A	INTRINSIC
coiled coil region	1013	1048	N/A	INTRINSIC
low complexity region	1122	1153	N/A	INTRINSIC
low complexity region	1200	1221	N/A	INTRINSIC
low complexity region	1236	1244	N/A	INTRINSIC
coiled coil region	1268	1300	N/A	INTRINSIC
AAA	1488	1642	3.16e-5	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 231 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,877,529 (GRCm39)	T1059I	probably benign	Het
Abcb11	C	T	2: 69,091,910 (GRCm39)	A871T	probably damaging	Het
Acot7	T	C	4: 152,345,369 (GRCm39)	L313P	probably damaging	Het
Adam20	T	A	8: 41,249,595 (GRCm39)	H568Q	probably benign	Het
Adam26b	T	A	8: 43,974,714 (GRCm39)	D96V	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Apbb1	A	G	7: 105,223,434 (GRCm39)	V59A	probably benign	Het
Apc	A	G	18: 34,445,371 (GRCm39)	K722E	probably damaging	Het
Aspm	A	G	1: 139,401,312 (GRCm39)	I1111V	probably benign	Het
Aspscr1	A	G	11: 120,569,342 (GRCm39)	T47A	probably damaging	Het
Atr	G	A	9: 95,779,634 (GRCm39)	V1331I	probably benign	Het
Baz1a	G	A	12: 54,945,573 (GRCm39)	R1261*	probably null	Het
C2cd2l	C	A	9: 44,231,040 (GRCm39)	R49L	probably benign	Het
C4bp	C	G	1: 130,570,725 (GRCm39)	V284L	probably benign	Het
Cacna1c	A	C	6: 118,587,505 (GRCm39)	M1287R	probably damaging	Het
Cacna1s	T	C	1: 136,046,454 (GRCm39)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc177	A	G	12: 80,806,013 (GRCm39)	V87A	probably damaging	Het
Ccdc178	T	A	18: 22,230,780 (GRCm39)	I364F	possibly damaging	Het
Ccdc93	T	C	1: 121,389,668 (GRCm39)	V237A	probably benign	Het
Ccdc93	C	T	1: 121,383,855 (GRCm39)	P192L	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cdh19	C	A	1: 110,821,114 (GRCm39)	E541D	probably damaging	Het
Cdh20	C	G	1: 109,993,465 (GRCm39)	L307V	possibly damaging	Het
Cep120	A	G	18: 53,852,286 (GRCm39)		probably null	Het
Cep128	G	T	12: 90,989,265 (GRCm39)		probably null	Het
Cep131	T	C	11: 119,974,732 (GRCm39)	I23V	probably benign	Het
Cfc1	A	G	1: 34,576,315 (GRCm39)	D125G	probably damaging	Het
Cfh	T	C	1: 140,064,526 (GRCm39)	K374R	probably benign	Het
Cfh	C	T	1: 140,075,435 (GRCm39)	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,741,180 (GRCm39)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,741,197 (GRCm39)	N259K	probably benign	Het
Chi3l1	C	T	1: 134,116,267 (GRCm39)	A250V	probably damaging	Het
Clca3a1	C	A	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Clec4a3	C	T	6: 122,931,000 (GRCm39)	Q30*	probably null	Het
Cntnap3	T	A	13: 64,888,406 (GRCm39)	R1232S	probably benign	Het
Cntnap5a	C	T	1: 116,382,873 (GRCm39)	T1047I	probably benign	Het
Cntnap5a	C	A	1: 116,382,734 (GRCm39)	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,382,831 (GRCm39)	L1033S	probably benign	Het
Col12a1	T	A	9: 79,540,750 (GRCm39)	I2412F	probably damaging	Het
Crb1	G	A	1: 139,168,876 (GRCm39)	P881S	probably damaging	Het
Crb1	C	T	1: 139,170,733 (GRCm39)	G825R	probably damaging	Het
Crb1	C	T	1: 139,171,155 (GRCm39)	R684H	probably benign	Het
Crb1	T	C	1: 139,162,517 (GRCm39)	M1214V	probably benign	Het
Crb1	A	T	1: 139,165,360 (GRCm39)	H921Q	probably benign	Het
Cxcl2	C	T	5: 91,052,017 (GRCm39)	T41I	probably damaging	Het
Cxcr4	C	T	1: 128,517,014 (GRCm39)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,335,405 (GRCm39)	R147W	probably damaging	Het
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Disp2	T	C	2: 118,622,031 (GRCm39)	V921A	probably damaging	Het
Dnajc10	C	G	2: 80,178,006 (GRCm39)	A671G	probably benign	Het
Dner	T	C	1: 84,348,505 (GRCm39)	I732V	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dsel	G	C	1: 111,787,724 (GRCm39)	T937S	probably benign	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
Dysf	T	C	6: 84,089,217 (GRCm39)		probably null	Het
Eefsec	T	A	6: 88,353,187 (GRCm39)	K161*	probably null	Het
Ehhadh	G	C	16: 21,581,003 (GRCm39)	A663G	probably benign	Het
En1	A	G	1: 120,531,350 (GRCm39)	S197G	unknown	Het
Etnk2	C	A	1: 133,293,325 (GRCm39)	D89E	probably benign	Het
Etnk2	G	T	1: 133,293,503 (GRCm39)	G149W	probably damaging	Het
Etnk2	C	T	1: 133,293,554 (GRCm39)	R166*	probably null	Het
Etnk2	G	A	1: 133,293,555 (GRCm39)	R166Q	probably benign	Het
Etnk2	T	A	1: 133,304,653 (GRCm39)	V292E	probably benign	Het
Etnk2	A	G	1: 133,291,661 (GRCm39)	S54G	probably benign	Het
Exph5	T	C	9: 53,286,888 (GRCm39)	V1323A	possibly damaging	Het
Eya2	G	T	2: 165,529,583 (GRCm39)	G109W	probably damaging	Het
Fam72a	C	T	1: 131,466,633 (GRCm39)	T139M	probably benign	Het
Fam72a	T	C	1: 131,458,406 (GRCm39)	I56T	probably benign	Het
Fcamr	A	G	1: 130,739,317 (GRCm39)	I206V	probably benign	Het
Fcamr	G	A	1: 130,740,366 (GRCm39)	G262S	probably benign	Het
Fcamr	A	G	1: 130,740,429 (GRCm39)	I283V	probably benign	Het
Fcamr	T	C	1: 130,740,475 (GRCm39)	V298A	probably benign	Het
Fcamr	A	G	1: 130,740,546 (GRCm39)	M322V	probably benign	Het
Fcamr	C	T	1: 130,740,553 (GRCm39)	P324L	probably benign	Het
Fcamr	A	G	1: 130,742,334 (GRCm39)	N574D	probably benign	Het
Fcamr	A	C	1: 130,732,364 (GRCm39)	N117T	probably benign	Het
Fcmr	T	C	1: 130,806,006 (GRCm39)	S321P	probably benign	Het
Fcmr	A	G	1: 130,803,711 (GRCm39)	T172A	probably benign	Het
Focad	T	C	4: 88,316,128 (GRCm39)	M1560T	probably benign	Het
Gadd45gip1	T	A	8: 85,558,921 (GRCm39)	M1K	probably null	Het
Gbgt1	T	C	2: 28,395,064 (GRCm39)	V234A	possibly damaging	Het
Gin1	T	A	1: 97,713,829 (GRCm39)	D376E	probably damaging	Het
Git1	A	T	11: 77,389,808 (GRCm39)	I24F	probably damaging	Het
Gli2	G	T	1: 118,929,774 (GRCm39)	H44Q	probably benign	Het
Gli2	C	T	1: 118,795,817 (GRCm39)	A113T	possibly damaging	Het
Gnptab	T	C	10: 88,271,957 (GRCm39)	Y916H	probably benign	Het
Gpr25	G	A	1: 136,188,448 (GRCm39)	P55L	probably benign	Het
Heg1	T	G	16: 33,558,953 (GRCm39)	I1058S	possibly damaging	Het
Hivep3	A	G	4: 119,952,371 (GRCm39)	Y229C	probably benign	Het
Idi1	T	C	13: 8,940,447 (GRCm39)	F210L	probably benign	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	Het
Igfn1	C	T	1: 135,899,865 (GRCm39)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,898,149 (GRCm39)	S806G	probably benign	Het
Igfn1	G	A	1: 135,895,937 (GRCm39)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat7	T	G	11: 95,167,373 (GRCm39)	I455L	possibly damaging	Het
Kcnh5	G	T	12: 75,161,003 (GRCm39)	P302T	probably damaging	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	probably benign	Het
Kif14	T	C	1: 136,453,521 (GRCm39)	V1433A	probably benign	Het
Kif14	A	G	1: 136,396,713 (GRCm39)	K340E	probably damaging	Het
Kif14	G	A	1: 136,406,103 (GRCm39)	A556T	probably benign	Het
Kif14	A	G	1: 136,418,070 (GRCm39)	S868G	probably benign	Het
Kif14	C	T	1: 136,431,169 (GRCm39)	L1189F	probably benign	Het
Kif14	T	C	1: 136,443,699 (GRCm39)	F1291L	probably benign	Het
Krtap12-1	C	T	10: 77,556,826 (GRCm39)	T123I	possibly damaging	Het
Ksr1	G	A	11: 78,938,131 (GRCm39)	T49I	probably damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lat2	T	C	5: 134,635,223 (GRCm39)	H89R	possibly damaging	Het
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lax1	G	A	1: 133,611,372 (GRCm39)	P67S	probably damaging	Het
Lax1	T	C	1: 133,607,716 (GRCm39)	R342G	probably benign	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Man2a2	T	C	7: 80,012,186 (GRCm39)	E657G	probably benign	Het
Mfsd4a	C	T	1: 131,995,621 (GRCm39)	D4N	possibly damaging	Het
Mn1	G	T	5: 111,567,880 (GRCm39)	A617S	possibly damaging	Het
Mov10	T	C	3: 104,707,598 (GRCm39)	D592G	probably damaging	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mtmr12	A	T	15: 12,245,105 (GRCm39)	T207S	probably benign	Het
Musk	G	A	4: 58,293,563 (GRCm39)	V51M	probably damaging	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Naglu	C	T	11: 100,967,229 (GRCm39)	A393V	possibly damaging	Het
Ncan	T	A	8: 70,560,736 (GRCm39)	T744S	probably benign	Het
Nlrp4c	T	A	7: 6,076,221 (GRCm39)	V707E	probably damaging	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	Het
Nrcam	A	T	12: 44,618,458 (GRCm39)	Q822L	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Optc	C	G	1: 133,832,908 (GRCm39)	S64T	probably benign	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4c124	T	A	2: 89,155,910 (GRCm39)	I205F	probably benign	Het
Pak1	T	A	7: 97,553,902 (GRCm39)	V424E	probably damaging	Het
Pdcd6	G	A	13: 74,452,160 (GRCm39)	T160I	probably damaging	Het
Phf21a	C	T	2: 92,190,644 (GRCm39)	T535M	possibly damaging	Het
Pigr	C	T	1: 130,772,259 (GRCm39)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 132,994,365 (GRCm39)	P110S	probably benign	Het
Pkdrej	G	A	15: 85,704,628 (GRCm39)	T436I	probably benign	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Ppip5k2	A	T	1: 97,656,682 (GRCm39)	H830Q	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,027,414 (GRCm39)	N478T	probably benign	Het
Ptprc	T	C	1: 138,039,992 (GRCm39)	K212E	possibly damaging	Het
Ptprc	A	G	1: 138,035,575 (GRCm39)	V400A	probably benign	Het
Ptprc	C	A	1: 138,035,562 (GRCm39)	E402D	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	probably benign	Het
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	probably benign	Het
Ren1	T	A	1: 133,281,944 (GRCm39)	W22R	probably damaging	Het
Ren1	C	G	1: 133,287,745 (GRCm39)	L360V	probably benign	Het
Ren1	A	T	1: 133,287,721 (GRCm39)	N352Y	probably benign	Het
Ren1	A	T	1: 133,286,817 (GRCm39)	E315D	probably benign	Het
Ren1	A	C	1: 133,284,195 (GRCm39)	K187Q	probably benign	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	Het
Rnpep	C	G	1: 135,211,367 (GRCm39)	R127P	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Ro60	C	T	1: 143,635,752 (GRCm39)	V465I	probably benign	Het
Sctr	T	C	1: 119,959,386 (GRCm39)	F110L	probably benign	Het
Sctr	G	A	1: 119,990,987 (GRCm39)	S440N	possibly damaging	Het
Sctr	G	T	1: 119,990,976 (GRCm39)	E453D	probably benign	Het
Sema4a	A	G	3: 88,344,145 (GRCm39)	L702P	possibly damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,466,203 (GRCm39)	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,443,365 (GRCm39)	A55T	probably damaging	Het
Serpinb2	A	C	1: 107,452,273 (GRCm39)	S284R	probably benign	Het
Serpinb2	C	T	1: 107,451,624 (GRCm39)	T259I	probably benign	Het
Serpinb2	C	T	1: 107,451,620 (GRCm39)	H258Y	probably benign	Het
Serpinb2	C	A	1: 107,451,564 (GRCm39)	A239E	probably benign	Het
Serpinb8	A	G	1: 107,525,257 (GRCm39)	S20G	probably benign	Het
Serpinb8	A	C	1: 107,534,734 (GRCm39)	L268F	probably benign	Het
Serpinb8	G	A	1: 107,526,684 (GRCm39)	A75T	probably benign	Het
Shank2	A	T	7: 143,733,590 (GRCm39)	N482Y	probably damaging	Het
Shc3	A	T	13: 51,636,952 (GRCm39)	V72E	probably damaging	Het
Slc26a9	C	T	1: 131,691,608 (GRCm39)	A617V	probably benign	Het
Slc45a4	A	G	15: 73,457,887 (GRCm39)	I562T	probably damaging	Het
Smc6	T	G	12: 11,367,854 (GRCm39)	V1088G	probably benign	Het
Snx32	C	A	19: 5,546,139 (GRCm39)	R341L	probably benign	Het
Specc1	C	T	11: 62,009,644 (GRCm39)	Q467*	probably null	Het
Speer1c	T	C	5: 10,295,171 (GRCm39)	I90V	possibly damaging	Het
Spock3	A	T	8: 63,801,981 (GRCm39)	N323I	probably damaging	Het
Stac3	A	G	10: 127,343,635 (GRCm39)	K259R	probably benign	Het
Steap3	G	A	1: 120,162,108 (GRCm39)	A350V	probably benign	Het
Steap3	T	C	1: 120,155,480 (GRCm39)	N493S	probably benign	Het
Stx3	A	G	19: 11,762,887 (GRCm39)	I163T	probably damaging	Het
Suco	A	G	1: 161,655,224 (GRCm39)		probably null	Het
Syngr4	A	G	7: 45,538,146 (GRCm39)	F74S	possibly damaging	Het
Synpo2l	G	A	14: 20,715,887 (GRCm39)	P233S	probably damaging	Het
Tcf4	A	T	18: 69,776,041 (GRCm39)	T163S	probably damaging	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Tlk1	T	C	2: 70,551,421 (GRCm39)	Y634C	probably damaging	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,089,705 (GRCm39)	Y66H	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ttyh1	G	A	7: 4,132,348 (GRCm39)	M261I	probably benign	Het
Ubap2	A	G	4: 41,206,849 (GRCm39)	V509A	probably benign	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Ucp3	G	C	7: 100,131,927 (GRCm39)	M259I	probably benign	Het
Unc80	A	T	1: 66,567,051 (GRCm39)	N886Y	probably damaging	Het
Vmn1r197	T	A	13: 22,512,541 (GRCm39)	L154Q	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,297 (GRCm39)	M38K	probably benign	Het
Vmn2r78	C	A	7: 86,569,997 (GRCm39)	Q172K	probably benign	Het
Ypel1	C	G	16: 16,907,283 (GRCm39)		probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zfhx4	A	T	3: 5,466,790 (GRCm39)	D2316V	probably damaging	Het
Zfp108	T	C	7: 23,960,735 (GRCm39)	V442A	probably damaging	Het
Zfp260	A	T	7: 29,804,231 (GRCm39)	T44S	probably benign	Het
Zfp873	C	A	10: 81,896,541 (GRCm39)	T424N	probably damaging	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	possibly damaging	Het
Zswim2	T	A	2: 83,745,684 (GRCm39)	K585*	probably null	Het

Other mutations in Nav1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Nav1	APN	1	135,378,368 (GRCm39)	missense	probably damaging	1.00
IGL01455:Nav1	APN	1	135,397,373 (GRCm39)	missense	probably benign	0.44
IGL01650:Nav1	APN	1	135,382,498 (GRCm39)	missense	probably damaging	1.00
IGL01872:Nav1	APN	1	135,381,814 (GRCm39)	missense	probably damaging	1.00
IGL01967:Nav1	APN	1	135,464,983 (GRCm39)	missense	probably damaging	1.00
IGL02167:Nav1	APN	1	135,398,699 (GRCm39)	missense	probably damaging	1.00
IGL02278:Nav1	APN	1	135,391,452 (GRCm39)	splice site	probably benign
IGL02343:Nav1	APN	1	135,382,490 (GRCm39)	nonsense	probably null
IGL02378:Nav1	APN	1	135,397,716 (GRCm39)	missense	probably benign	0.02
IGL02554:Nav1	APN	1	135,512,651 (GRCm39)	synonymous	silent
IGL03148:Nav1	APN	1	135,397,762 (GRCm39)	missense	possibly damaging	0.94
IGL03286:Nav1	APN	1	135,382,274 (GRCm39)	missense	probably benign
IGL03372:Nav1	APN	1	135,378,641 (GRCm39)	missense	probably damaging	0.99
PIT4802001:Nav1	UTSW	1	135,380,671 (GRCm39)	missense	unknown
R0388:Nav1	UTSW	1	135,376,655 (GRCm39)	splice site	probably benign
R0390:Nav1	UTSW	1	135,377,704 (GRCm39)	missense	possibly damaging	0.80
R0395:Nav1	UTSW	1	135,460,361 (GRCm39)	missense	probably damaging	0.97
R0395:Nav1	UTSW	1	135,460,359 (GRCm39)	nonsense	probably null
R0416:Nav1	UTSW	1	135,398,864 (GRCm39)	missense	possibly damaging	0.73
R0463:Nav1	UTSW	1	135,379,945 (GRCm39)	missense	possibly damaging	0.76
R0538:Nav1	UTSW	1	135,392,430 (GRCm39)	splice site	probably benign
R0594:Nav1	UTSW	1	135,395,381 (GRCm39)	missense	possibly damaging	0.74
R0696:Nav1	UTSW	1	135,460,352 (GRCm39)	missense	probably damaging	0.99
R0699:Nav1	UTSW	1	135,380,687 (GRCm39)	missense	probably benign	0.00
R0759:Nav1	UTSW	1	135,382,998 (GRCm39)	missense	possibly damaging	0.73
R1164:Nav1	UTSW	1	135,400,148 (GRCm39)	missense	probably benign
R1169:Nav1	UTSW	1	135,382,943 (GRCm39)	missense	probably damaging	1.00
R1401:Nav1	UTSW	1	135,388,163 (GRCm39)	missense	probably benign	0.20
R1421:Nav1	UTSW	1	135,512,748 (GRCm39)	missense	probably damaging	1.00
R1642:Nav1	UTSW	1	135,380,010 (GRCm39)	missense	probably damaging	1.00
R1705:Nav1	UTSW	1	135,512,337 (GRCm39)	missense	probably damaging	1.00
R1713:Nav1	UTSW	1	135,522,972 (GRCm39)	intron	probably benign
R1728:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1729:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1730:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1740:Nav1	UTSW	1	135,386,127 (GRCm39)	critical splice donor site	probably null
R1762:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1783:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1784:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1785:Nav1	UTSW	1	135,512,465 (GRCm39)	missense	possibly damaging	0.82
R1895:Nav1	UTSW	1	135,386,396 (GRCm39)	missense	probably damaging	1.00
R1896:Nav1	UTSW	1	135,388,475 (GRCm39)	missense	probably benign	0.00
R1901:Nav1	UTSW	1	135,400,148 (GRCm39)	missense	probably benign	0.03
R1902:Nav1	UTSW	1	135,400,148 (GRCm39)	missense	probably benign	0.03
R1925:Nav1	UTSW	1	135,534,967 (GRCm39)	utr 5 prime	probably benign
R1939:Nav1	UTSW	1	135,393,636 (GRCm39)	missense	probably damaging	1.00
R1971:Nav1	UTSW	1	135,460,091 (GRCm39)	missense	probably benign	0.06
R2063:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2066:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2084:Nav1	UTSW	1	135,535,158 (GRCm39)	unclassified	probably benign
R2090:Nav1	UTSW	1	135,534,903 (GRCm39)	utr 5 prime	probably benign
R2107:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2110:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2111:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2112:Nav1	UTSW	1	135,376,742 (GRCm39)	missense	probably damaging	1.00
R2136:Nav1	UTSW	1	135,382,174 (GRCm39)	missense	probably null	0.18
R2268:Nav1	UTSW	1	135,399,974 (GRCm39)	nonsense	probably null
R2269:Nav1	UTSW	1	135,399,974 (GRCm39)	nonsense	probably null
R2847:Nav1	UTSW	1	135,378,382 (GRCm39)	splice site	probably null
R2869:Nav1	UTSW	1	135,388,495 (GRCm39)	synonymous	silent
R2871:Nav1	UTSW	1	135,388,495 (GRCm39)	synonymous	silent
R2872:Nav1	UTSW	1	135,388,495 (GRCm39)	synonymous	silent
R2904:Nav1	UTSW	1	135,512,976 (GRCm39)	missense	probably benign
R3690:Nav1	UTSW	1	135,395,382 (GRCm39)	missense	probably benign	0.11
R3716:Nav1	UTSW	1	135,378,368 (GRCm39)	missense	probably damaging	1.00
R3717:Nav1	UTSW	1	135,378,368 (GRCm39)	missense	probably damaging	1.00
R3718:Nav1	UTSW	1	135,378,368 (GRCm39)	missense	probably damaging	1.00
R3815:Nav1	UTSW	1	135,398,862 (GRCm39)	missense	possibly damaging	0.95
R4282:Nav1	UTSW	1	135,385,651 (GRCm39)	intron	probably benign
R4361:Nav1	UTSW	1	135,535,175 (GRCm39)	unclassified	probably benign
R4610:Nav1	UTSW	1	135,520,186 (GRCm39)	intron	probably benign
R4730:Nav1	UTSW	1	135,535,049 (GRCm39)	unclassified	probably benign
R4784:Nav1	UTSW	1	135,386,477 (GRCm39)	missense	probably damaging	1.00
R4788:Nav1	UTSW	1	135,397,461 (GRCm39)	missense	probably benign
R4808:Nav1	UTSW	1	135,382,942 (GRCm39)	missense	probably damaging	1.00
R4996:Nav1	UTSW	1	135,393,709 (GRCm39)	missense	probably damaging	1.00
R5284:Nav1	UTSW	1	135,377,701 (GRCm39)	nonsense	probably null
R5514:Nav1	UTSW	1	135,398,299 (GRCm39)	missense	probably benign	0.04
R5769:Nav1	UTSW	1	135,379,995 (GRCm39)	missense	probably damaging	1.00
R5834:Nav1	UTSW	1	135,460,144 (GRCm39)	missense	probably benign	0.07
R5898:Nav1	UTSW	1	135,512,884 (GRCm39)	missense	probably benign
R6081:Nav1	UTSW	1	135,398,560 (GRCm39)	missense	probably damaging	1.00
R6344:Nav1	UTSW	1	135,378,534 (GRCm39)	missense	probably damaging	1.00
R6378:Nav1	UTSW	1	135,382,433 (GRCm39)	missense	probably damaging	1.00
R7001:Nav1	UTSW	1	135,382,349 (GRCm39)	splice site	probably null
R7185:Nav1	UTSW	1	135,398,746 (GRCm39)	missense	possibly damaging	0.85
R7291:Nav1	UTSW	1	135,393,597 (GRCm39)	missense	probably damaging	1.00
R7361:Nav1	UTSW	1	135,380,591 (GRCm39)	missense	unknown
R7390:Nav1	UTSW	1	135,512,656 (GRCm39)	missense	probably benign	0.01
R7464:Nav1	UTSW	1	135,512,647 (GRCm39)	missense	probably benign	0.03
R7502:Nav1	UTSW	1	135,397,404 (GRCm39)	missense	probably damaging	1.00
R7601:Nav1	UTSW	1	135,388,176 (GRCm39)	missense	unknown
R7625:Nav1	UTSW	1	135,395,483 (GRCm39)	missense	probably damaging	1.00
R7639:Nav1	UTSW	1	135,398,860 (GRCm39)	missense	probably benign	0.09
R7786:Nav1	UTSW	1	135,397,733 (GRCm39)	missense	probably damaging	1.00
R7808:Nav1	UTSW	1	135,379,986 (GRCm39)	missense	unknown
R7815:Nav1	UTSW	1	135,512,377 (GRCm39)	missense	possibly damaging	0.49
R7825:Nav1	UTSW	1	135,377,782 (GRCm39)	missense	probably damaging	0.98
R8030:Nav1	UTSW	1	135,464,977 (GRCm39)	missense	probably damaging	1.00
R8370:Nav1	UTSW	1	135,398,882 (GRCm39)	nonsense	probably null
R8405:Nav1	UTSW	1	135,382,508 (GRCm39)	missense	unknown
R8720:Nav1	UTSW	1	135,388,464 (GRCm39)	missense	unknown
R8868:Nav1	UTSW	1	135,512,943 (GRCm39)	missense	probably benign	0.05
R8973:Nav1	UTSW	1	135,512,463 (GRCm39)	missense	probably benign	0.01
R9039:Nav1	UTSW	1	135,371,487 (GRCm39)	missense	unknown
R9261:Nav1	UTSW	1	135,388,095 (GRCm39)	missense	unknown
R9523:Nav1	UTSW	1	135,379,929 (GRCm39)	missense	unknown
Z1088:Nav1	UTSW	1	135,398,462 (GRCm39)	missense	probably benign	0.01
Z1176:Nav1	UTSW	1	135,400,158 (GRCm39)	missense	probably damaging	1.00
Z1176:Nav1	UTSW	1	135,380,624 (GRCm39)	missense	unknown
Z1177:Nav1	UTSW	1	135,397,469 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TCTGGGCAGTAATACCCCTCCTAAC -3'
(R):5'- AGTCTGAGCATTCGCTCTTCCAAC -3'

Sequencing Primer
(F):5'- AGCAAGTCTTACCTAGCATCTG -3'
(R):5'- TCTTCCAACCCAAAGGTGG -3'

Posted On

2014-05-23