Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:Nav1'

324884

Institutional Source

Beutler Lab

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

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

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R4361 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135362318-135615843 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 135535175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140322 (fasta)

Gene Model

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

AlphaFold

Q8CH77

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112103

Predicted Effect

probably benign
Transcript: ENSMUST00000190298

SMART Domains

Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,688 (GRCm39)	T538A	probably damaging	Het
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Aadac	T	A	3: 59,947,182 (GRCm39)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,481,947 (GRCm39)		probably benign	Het
Ccdc157	C	T	11: 4,096,550 (GRCm39)	A400T	probably damaging	Het
Cdc42ep5	A	G	7: 4,154,779 (GRCm39)	V3A	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,865 (GRCm39)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,478,646 (GRCm39)	D264N	probably damaging	Het
Dram2	T	C	3: 106,473,531 (GRCm39)		probably benign	Het
Dtx4	C	A	19: 12,462,660 (GRCm39)	S373I	probably benign	Het
Eif4a1	G	A	11: 69,558,290 (GRCm39)		probably benign	Het
Eps15	T	C	4: 109,237,228 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,676 (GRCm39)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,880,676 (GRCm39)		probably benign	Het
Gabra4	C	T	5: 71,790,888 (GRCm39)		probably null	Het
Gins1	A	G	2: 150,767,821 (GRCm39)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,325,687 (GRCm39)	S53T	probably benign	Het
Gne	C	A	4: 44,059,947 (GRCm39)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,276,552 (GRCm39)	C191*	probably null	Het
Has2	G	T	15: 56,545,344 (GRCm39)	A86E	probably damaging	Het
Ift80	A	T	3: 68,870,982 (GRCm39)	S205T	probably damaging	Het
Irx5	G	T	8: 93,085,025 (GRCm39)	A72S	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,768,044 (GRCm39)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,645,378 (GRCm39)		probably null	Het
Kmt2d	T	G	15: 98,761,551 (GRCm39)	M600L	unknown	Het
Lmtk2	T	A	5: 144,084,482 (GRCm39)	S172R	probably damaging	Het
Lrrc37	CTTTT	CTTTTT	11: 103,508,327 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,925,496 (GRCm39)		probably benign	Het
Mab21l2	C	T	3: 86,454,497 (GRCm39)	V168M	probably damaging	Het
Magea3	A	C	X: 153,731,850 (GRCm39)	C218G	possibly damaging	Het
Magea3	C	A	X: 153,731,849 (GRCm39)	C218F	probably benign	Het
Man1a2	T	C	3: 100,563,358 (GRCm39)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,330,293 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nav3	T	C	10: 109,688,847 (GRCm39)	K477E	probably damaging	Het
Nup98	T	A	7: 101,794,921 (GRCm39)	H862L	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcnx2	G	T	8: 126,495,037 (GRCm39)	S1608*	probably null	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,286,779 (GRCm39)	I303V	probably benign	Het
Retreg3	T	A	11: 100,994,713 (GRCm39)		probably null	Het
Rnf6	C	A	5: 146,148,089 (GRCm39)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scrn2	C	T	11: 96,923,064 (GRCm39)	A169V	probably null	Het
Slc4a10	T	C	2: 62,073,729 (GRCm39)	S264P	probably benign	Het
Tex26	A	T	5: 149,384,388 (GRCm39)	Q102L	probably benign	Het
Tex38	A	G	4: 115,637,420 (GRCm39)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,311,626 (GRCm39)		probably benign	Het
Tyr	G	T	7: 87,078,284 (GRCm39)	H525Q	probably benign	Het
Veph1	T	C	3: 66,066,737 (GRCm39)	N417S	probably benign	Het
Zfp597	A	T	16: 3,683,764 (GRCm39)	S331T	probably damaging	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
R1739: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
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'- TGCACACTGGAGAGGAAGTC -3'
(R):5'- GCAGTCTCTTCTAGAAACTCATCCC -3'

Sequencing Primer
(F):5'- AGAGGAAGTCCCCGAAGCTTC -3'
(R):5'- ATCCCCCAAGGCTTACAGGG -3'

Posted On

2015-07-06