Mutagenetix > Incidental Mutation

Incidental Mutation 'R5251:Nav3'

399051

Institutional Source

Beutler Lab

Gene Symbol

Nav3

Ensembl Gene

ENSMUSG00000020181

Gene Name

neuron navigator 3

Synonyms

Pomfil1p, 9630020C08Rik, POMFIL1, steerin 3, 4732483H20Rik, unc53H3

MMRRC Submission

042822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109517120-110292065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109689114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 388 (F388L)

Ref Sequence

ENSEMBL: ENSMUSP00000032719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032719]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032719
AA Change: F388L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032719
Gene: ENSMUSG00000020181
AA Change: F388L

Domain	Start	End	E-Value	Type
CH	79	182	4.41e-12	SMART
low complexity region	184	194	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	353	363	N/A	INTRINSIC
low complexity region	427	439	N/A	INTRINSIC
low complexity region	522	536	N/A	INTRINSIC
low complexity region	713	724	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	873	896	N/A	INTRINSIC
low complexity region	904	916	N/A	INTRINSIC
low complexity region	1077	1095	N/A	INTRINSIC
low complexity region	1160	1173	N/A	INTRINSIC
low complexity region	1207	1229	N/A	INTRINSIC
low complexity region	1256	1266	N/A	INTRINSIC
low complexity region	1274	1285	N/A	INTRINSIC
low complexity region	1293	1312	N/A	INTRINSIC
low complexity region	1327	1341	N/A	INTRINSIC
low complexity region	1383	1397	N/A	INTRINSIC
low complexity region	1462	1474	N/A	INTRINSIC
low complexity region	1550	1563	N/A	INTRINSIC
coiled coil region	1565	1656	N/A	INTRINSIC
low complexity region	1675	1692	N/A	INTRINSIC
low complexity region	1722	1733	N/A	INTRINSIC
low complexity region	1756	1781	N/A	INTRINSIC
low complexity region	1782	1795	N/A	INTRINSIC
coiled coil region	1801	1842	N/A	INTRINSIC
low complexity region	1848	1871	N/A	INTRINSIC
AAA	2029	2184	4.94e-7	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,108,236 (GRCm39)	E194V	probably damaging	Het
Ankrd16	T	A	2: 11,783,552 (GRCm39)	D51E	probably damaging	Het
Arhgef5	A	G	6: 43,249,815 (GRCm39)	T189A	possibly damaging	Het
Camk4	A	G	18: 33,317,932 (GRCm39)	D363G	probably benign	Het
Camta1	A	G	4: 151,248,341 (GRCm39)	I199T	probably damaging	Het
Ccdc141	C	T	2: 76,858,118 (GRCm39)	C1021Y	probably damaging	Het
Cdc34	C	T	10: 79,521,090 (GRCm39)	S129L	probably damaging	Het
Cenph	T	A	13: 100,898,348 (GRCm39)	N185I	possibly damaging	Het
Colq	A	G	14: 31,261,776 (GRCm39)		probably null	Het
Dph2	A	T	4: 117,747,543 (GRCm39)	D280E	probably damaging	Het
Exosc5	A	G	7: 25,367,180 (GRCm39)	Y224C	probably damaging	Het
Fgfr3	C	T	5: 33,892,900 (GRCm39)		probably benign	Het
Hs3st6	T	A	17: 24,976,959 (GRCm39)	D146E	probably benign	Het
Igkv13-84	A	T	6: 68,916,772 (GRCm39)	Q23L	probably benign	Het
Macf1	A	G	4: 123,343,760 (GRCm39)	V2154A	probably benign	Het
Man1a2	T	C	3: 100,527,415 (GRCm39)	E225G	probably damaging	Het
Mertk	T	C	2: 128,571,375 (GRCm39)	S110P	probably damaging	Het
Nme8	T	C	13: 19,844,795 (GRCm39)	N98S	probably benign	Het
Nup205	A	G	6: 35,173,417 (GRCm39)		probably null	Het
Prl7d1	T	C	13: 27,893,227 (GRCm39)	N228S	probably benign	Het
Prss23	T	C	7: 89,159,530 (GRCm39)	K180E	probably damaging	Het
Psap	G	A	10: 60,137,479 (GRCm39)	D549N	probably damaging	Het
Sec16a	A	G	2: 26,329,357 (GRCm39)	V886A	probably benign	Het
Sh2d1b2	A	T	1: 170,077,642 (GRCm39)	E81D	probably benign	Het
Tbx6	A	T	7: 126,382,516 (GRCm39)	N254I	probably damaging	Het
Tchhl1	T	C	3: 93,377,860 (GRCm39)	V188A	possibly damaging	Het
Trpc3	A	T	3: 36,725,103 (GRCm39)	L291Q	probably damaging	Het
Zbtb38	G	T	9: 96,569,161 (GRCm39)	T641N	probably benign	Het

Other mutations in Nav3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nav3	APN	10	109,677,594 (GRCm39)	missense	probably damaging	0.99
IGL00425:Nav3	APN	10	109,539,368 (GRCm39)	missense	probably benign	0.13
IGL00465:Nav3	APN	10	109,688,607 (GRCm39)	missense	probably damaging	0.99
IGL00531:Nav3	APN	10	109,539,171 (GRCm39)	missense	probably null	0.99
IGL00575:Nav3	APN	10	109,600,626 (GRCm39)	missense	probably damaging	0.98
IGL00770:Nav3	APN	10	109,652,124 (GRCm39)	missense	probably damaging	1.00
IGL00774:Nav3	APN	10	109,652,124 (GRCm39)	missense	probably damaging	1.00
IGL00858:Nav3	APN	10	109,578,493 (GRCm39)	missense	probably damaging	0.98
IGL00935:Nav3	APN	10	109,541,527 (GRCm39)	missense	probably benign
IGL01638:Nav3	APN	10	109,688,724 (GRCm39)	missense	probably damaging	1.00
IGL01662:Nav3	APN	10	109,605,119 (GRCm39)	missense	possibly damaging	0.56
IGL01670:Nav3	APN	10	109,550,102 (GRCm39)	missense	possibly damaging	0.92
IGL01885:Nav3	APN	10	109,578,521 (GRCm39)	nonsense	probably null
IGL01979:Nav3	APN	10	109,540,790 (GRCm39)	missense	probably benign	0.01
IGL02121:Nav3	APN	10	109,594,897 (GRCm39)	missense	probably damaging	0.99
IGL02210:Nav3	APN	10	109,602,851 (GRCm39)	missense	probably benign
IGL02523:Nav3	APN	10	109,605,157 (GRCm39)	missense	probably damaging	1.00
IGL02573:Nav3	APN	10	109,702,835 (GRCm39)	missense	probably benign	0.23
IGL02633:Nav3	APN	10	109,527,997 (GRCm39)	missense	probably benign	0.09
IGL02810:Nav3	APN	10	109,652,135 (GRCm39)	missense	probably damaging	1.00
IGL02964:Nav3	APN	10	109,572,814 (GRCm39)	missense	probably damaging	0.99
IGL03015:Nav3	APN	10	109,554,158 (GRCm39)	missense	probably damaging	0.98
IGL03288:Nav3	APN	10	109,594,878 (GRCm39)	missense	probably damaging	1.00
IGL03310:Nav3	APN	10	109,660,433 (GRCm39)	critical splice donor site	probably null
PIT4377001:Nav3	UTSW	10	109,552,466 (GRCm39)	missense	probably damaging	0.99
R0010:Nav3	UTSW	10	109,659,087 (GRCm39)	splice site	probably benign
R0043:Nav3	UTSW	10	109,603,379 (GRCm39)	missense	possibly damaging	0.95
R0053:Nav3	UTSW	10	109,602,778 (GRCm39)	splice site	probably benign
R0053:Nav3	UTSW	10	109,602,778 (GRCm39)	splice site	probably benign
R0077:Nav3	UTSW	10	109,552,503 (GRCm39)	missense	possibly damaging	0.87
R0219:Nav3	UTSW	10	109,702,791 (GRCm39)	critical splice donor site	probably null
R0310:Nav3	UTSW	10	109,602,989 (GRCm39)	missense	possibly damaging	0.82
R0380:Nav3	UTSW	10	109,594,740 (GRCm39)	splice site	probably benign
R0403:Nav3	UTSW	10	109,602,964 (GRCm39)	missense	probably damaging	0.98
R0480:Nav3	UTSW	10	109,689,161 (GRCm39)	missense	probably damaging	1.00
R0626:Nav3	UTSW	10	109,659,325 (GRCm39)	missense	probably damaging	1.00
R0637:Nav3	UTSW	10	109,606,058 (GRCm39)	missense	probably benign	0.25
R0847:Nav3	UTSW	10	109,739,718 (GRCm39)	missense	possibly damaging	0.94
R0988:Nav3	UTSW	10	109,552,389 (GRCm39)	missense	probably damaging	1.00
R1272:Nav3	UTSW	10	109,572,860 (GRCm39)	missense	probably damaging	0.98
R1295:Nav3	UTSW	10	109,527,963 (GRCm39)	missense	probably damaging	1.00
R1405:Nav3	UTSW	10	109,606,194 (GRCm39)	splice site	probably benign
R1406:Nav3	UTSW	10	109,719,495 (GRCm39)	missense	possibly damaging	0.64
R1406:Nav3	UTSW	10	109,719,495 (GRCm39)	missense	possibly damaging	0.64
R1420:Nav3	UTSW	10	109,659,115 (GRCm39)	missense	probably benign	0.02
R1449:Nav3	UTSW	10	109,689,372 (GRCm39)	missense	probably benign	0.13
R1458:Nav3	UTSW	10	109,555,905 (GRCm39)	missense	probably damaging	1.00
R1469:Nav3	UTSW	10	109,596,369 (GRCm39)	missense	probably damaging	1.00
R1469:Nav3	UTSW	10	109,596,369 (GRCm39)	missense	probably damaging	1.00
R1472:Nav3	UTSW	10	109,563,802 (GRCm39)	missense	probably damaging	0.99
R1537:Nav3	UTSW	10	109,702,846 (GRCm39)	missense	probably damaging	1.00
R1539:Nav3	UTSW	10	109,603,031 (GRCm39)	missense	probably damaging	0.99
R1581:Nav3	UTSW	10	109,659,289 (GRCm39)	missense	probably damaging	1.00
R1586:Nav3	UTSW	10	109,689,115 (GRCm39)	missense	probably damaging	1.00
R1654:Nav3	UTSW	10	109,688,984 (GRCm39)	missense	possibly damaging	0.85
R1725:Nav3	UTSW	10	109,659,451 (GRCm39)	missense	probably damaging	1.00
R1742:Nav3	UTSW	10	109,605,074 (GRCm39)	missense	probably benign
R1793:Nav3	UTSW	10	109,539,233 (GRCm39)	missense	probably benign	0.00
R1830:Nav3	UTSW	10	109,659,184 (GRCm39)	missense	probably damaging	1.00
R1834:Nav3	UTSW	10	109,555,883 (GRCm39)	missense	probably damaging	0.99
R1881:Nav3	UTSW	10	109,688,420 (GRCm39)	missense	probably damaging	0.96
R1922:Nav3	UTSW	10	109,541,467 (GRCm39)	missense	probably benign	0.43
R1944:Nav3	UTSW	10	109,552,391 (GRCm39)	missense	probably damaging	0.99
R1981:Nav3	UTSW	10	109,554,951 (GRCm39)	splice site	probably benign
R1985:Nav3	UTSW	10	109,606,045 (GRCm39)	splice site	probably benign
R1996:Nav3	UTSW	10	109,689,262 (GRCm39)	missense	probably damaging	1.00
R2051:Nav3	UTSW	10	109,660,536 (GRCm39)	missense	probably damaging	0.99
R2062:Nav3	UTSW	10	109,555,882 (GRCm39)	missense	probably damaging	1.00
R2139:Nav3	UTSW	10	109,688,996 (GRCm39)	missense	probably benign	0.22
R2248:Nav3	UTSW	10	109,532,088 (GRCm39)	missense	probably damaging	1.00
R2420:Nav3	UTSW	10	109,699,674 (GRCm39)	missense	probably damaging	0.98
R2444:Nav3	UTSW	10	109,600,776 (GRCm39)	missense	probably benign	0.09
R3026:Nav3	UTSW	10	109,660,465 (GRCm39)	missense	probably damaging	0.99
R3052:Nav3	UTSW	10	109,739,613 (GRCm39)	missense	probably damaging	0.99
R3441:Nav3	UTSW	10	109,540,789 (GRCm39)	missense	probably benign	0.01
R3845:Nav3	UTSW	10	109,689,237 (GRCm39)	missense	possibly damaging	0.82
R3929:Nav3	UTSW	10	109,520,064 (GRCm39)	missense	probably damaging	1.00
R3932:Nav3	UTSW	10	109,529,896 (GRCm39)	missense	probably damaging	0.99
R4056:Nav3	UTSW	10	109,716,394 (GRCm39)	critical splice donor site	probably null
R4057:Nav3	UTSW	10	109,716,394 (GRCm39)	critical splice donor site	probably null
R4120:Nav3	UTSW	10	109,739,605 (GRCm39)	critical splice donor site	probably null
R4244:Nav3	UTSW	10	109,605,157 (GRCm39)	missense	probably damaging	1.00
R4361:Nav3	UTSW	10	109,688,847 (GRCm39)	missense	probably damaging	1.00
R4512:Nav3	UTSW	10	109,529,943 (GRCm39)	missense	possibly damaging	0.89
R4514:Nav3	UTSW	10	109,529,943 (GRCm39)	missense	possibly damaging	0.89
R4700:Nav3	UTSW	10	109,600,796 (GRCm39)	missense	probably benign	0.10
R4815:Nav3	UTSW	10	109,659,413 (GRCm39)	missense	probably benign
R4981:Nav3	UTSW	10	109,716,553 (GRCm39)	missense	probably benign
R5042:Nav3	UTSW	10	109,605,129 (GRCm39)	missense	probably benign	0.27
R5252:Nav3	UTSW	10	109,550,152 (GRCm39)	small deletion	probably benign
R5273:Nav3	UTSW	10	109,528,899 (GRCm39)	critical splice donor site	probably null
R5288:Nav3	UTSW	10	109,688,966 (GRCm39)	missense	probably benign	0.10
R5407:Nav3	UTSW	10	109,702,796 (GRCm39)	missense	probably benign	0.28
R5533:Nav3	UTSW	10	109,719,539 (GRCm39)	missense	possibly damaging	0.61
R5561:Nav3	UTSW	10	109,552,413 (GRCm39)	missense	probably damaging	1.00
R5577:Nav3	UTSW	10	109,605,264 (GRCm39)	missense	probably damaging	1.00
R5656:Nav3	UTSW	10	109,600,494 (GRCm39)	missense	probably damaging	0.96
R5872:Nav3	UTSW	10	109,600,648 (GRCm39)	missense	probably damaging	1.00
R6023:Nav3	UTSW	10	109,659,376 (GRCm39)	missense	possibly damaging	0.95
R6061:Nav3	UTSW	10	109,702,845 (GRCm39)	nonsense	probably null
R6189:Nav3	UTSW	10	109,555,880 (GRCm39)	missense	probably damaging	0.98
R6214:Nav3	UTSW	10	109,688,426 (GRCm39)	missense	probably damaging	1.00
R6215:Nav3	UTSW	10	109,688,426 (GRCm39)	missense	probably damaging	1.00
R6264:Nav3	UTSW	10	109,524,694 (GRCm39)	missense	probably damaging	0.97
R6500:Nav3	UTSW	10	109,600,617 (GRCm39)	missense	probably damaging	1.00
R6524:Nav3	UTSW	10	109,555,891 (GRCm39)	missense	probably damaging	0.99
R6868:Nav3	UTSW	10	109,529,027 (GRCm39)	missense	possibly damaging	0.49
R7079:Nav3	UTSW	10	109,603,153 (GRCm39)	missense	probably benign	0.16
R7099:Nav3	UTSW	10	109,539,195 (GRCm39)	missense	probably benign	0.11
R7139:Nav3	UTSW	10	109,689,338 (GRCm39)	missense	probably benign	0.44
R7238:Nav3	UTSW	10	109,689,185 (GRCm39)	missense	possibly damaging	0.75
R7338:Nav3	UTSW	10	109,605,073 (GRCm39)	missense	probably benign	0.04
R7343:Nav3	UTSW	10	109,739,619 (GRCm39)	missense	probably damaging	0.98
R7383:Nav3	UTSW	10	109,552,532 (GRCm39)	missense	probably damaging	0.98
R7391:Nav3	UTSW	10	109,539,317 (GRCm39)	missense	probably benign	0.07
R7399:Nav3	UTSW	10	109,688,795 (GRCm39)	missense	possibly damaging	0.74
R7457:Nav3	UTSW	10	109,532,189 (GRCm39)	nonsense	probably null
R7462:Nav3	UTSW	10	109,659,439 (GRCm39)	missense	probably damaging	1.00
R7542:Nav3	UTSW	10	109,659,394 (GRCm39)	missense	possibly damaging	0.89
R7659:Nav3	UTSW	10	109,602,851 (GRCm39)	missense	probably benign	0.09
R7749:Nav3	UTSW	10	109,539,213 (GRCm39)	missense	probably damaging	0.99
R7794:Nav3	UTSW	10	109,524,717 (GRCm39)	missense	probably benign	0.08
R7876:Nav3	UTSW	10	109,689,359 (GRCm39)	missense	probably benign	0.26
R8048:Nav3	UTSW	10	109,600,779 (GRCm39)	missense	probably benign	0.13
R8104:Nav3	UTSW	10	109,594,828 (GRCm39)	missense	probably damaging	0.99
R8125:Nav3	UTSW	10	109,688,520 (GRCm39)	missense	probably damaging	0.99
R8275:Nav3	UTSW	10	109,527,984 (GRCm39)	missense	noncoding transcript
R8325:Nav3	UTSW	10	109,541,464 (GRCm39)	missense	probably benign	0.24
R8336:Nav3	UTSW	10	109,603,430 (GRCm39)	missense	probably damaging	0.99
R8523:Nav3	UTSW	10	109,659,138 (GRCm39)	missense	probably damaging	1.00
R8529:Nav3	UTSW	10	109,689,192 (GRCm39)	missense	probably benign	0.09
R8745:Nav3	UTSW	10	109,659,311 (GRCm39)	missense	probably benign	0.08
R8752:Nav3	UTSW	10	109,596,165 (GRCm39)	intron	probably benign
R8794:Nav3	UTSW	10	109,605,032 (GRCm39)	nonsense	probably null
R8816:Nav3	UTSW	10	109,699,721 (GRCm39)	missense	possibly damaging	0.69
R9029:Nav3	UTSW	10	109,699,613 (GRCm39)	missense	possibly damaging	0.68
R9117:Nav3	UTSW	10	109,520,100 (GRCm39)	missense	probably benign	0.41
R9126:Nav3	UTSW	10	109,541,524 (GRCm39)	missense	probably benign
R9258:Nav3	UTSW	10	109,550,243 (GRCm39)	missense	probably damaging	0.99
R9347:Nav3	UTSW	10	109,738,955 (GRCm39)	missense	probably damaging	0.98
R9353:Nav3	UTSW	10	109,554,065 (GRCm39)	missense	probably damaging	0.99
R9366:Nav3	UTSW	10	109,659,364 (GRCm39)	missense	probably damaging	0.99
R9384:Nav3	UTSW	10	109,554,158 (GRCm39)	missense	probably damaging	0.98
R9428:Nav3	UTSW	10	109,605,176 (GRCm39)	missense	probably benign
R9454:Nav3	UTSW	10	109,835,864 (GRCm39)	missense	probably benign	0.01
R9516:Nav3	UTSW	10	109,520,015 (GRCm39)	missense	probably damaging	1.00
R9521:Nav3	UTSW	10	109,835,845 (GRCm39)	missense	possibly damaging	0.95
R9622:Nav3	UTSW	10	109,603,103 (GRCm39)	missense	probably benign
R9689:Nav3	UTSW	10	109,605,034 (GRCm39)	missense	probably damaging	1.00
R9796:Nav3	UTSW	10	109,527,969 (GRCm39)	missense	probably damaging	0.99
X0012:Nav3	UTSW	10	109,527,958 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTTGGCTGCAGCAAAG -3'
(R):5'- CGCAGCAAGTCCATGAATG -3'

Sequencing Primer
(F):5'- GGCTGCAGCAAAGACTTTTTATTGC -3'
(R):5'- GTCCATGAATGTCAAGCACAGTGC -3'

Posted On

2016-07-06