Mutagenetix > Incidental Mutation

Incidental Mutation 'R4730:Nav1'

358729

Institutional Source

Beutler Lab

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

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

MMRRC Submission

041990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R4730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135362318-135615843 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 135535049 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: 94.8%

Validation Efficiency

99% (70/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	A	G	5: 103,990,939 (GRCm39)	Q963R	possibly damaging	Het
Arhgef28	C	T	13: 98,114,650 (GRCm39)	E645K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Col4a2	A	G	8: 11,487,590 (GRCm39)	N964S	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Duox1	T	G	2: 122,164,312 (GRCm39)	L924R	probably damaging	Het
Edem2	T	C	2: 155,547,618 (GRCm39)	E398G	possibly damaging	Het
Engase	A	G	11: 118,373,748 (GRCm39)	N297D	probably damaging	Het
Esp4	A	C	17: 40,913,445 (GRCm39)	Y104S	unknown	Het
Esp4	C	A	17: 40,913,446 (GRCm39)	Y104*	probably null	Het
Fat1	A	T	8: 45,486,514 (GRCm39)	N3356I	probably damaging	Het
Gm3867	T	A	9: 36,168,550 (GRCm39)		noncoding transcript	Het
Gm6818	C	T	7: 38,101,918 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,762,693 (GRCm39)	*175W	probably null	Het
Gucy1b2	A	G	14: 62,645,208 (GRCm39)	V617A	probably damaging	Het
Gzmc	C	T	14: 56,469,089 (GRCm39)	C210Y	probably damaging	Het
Hmg20a	T	A	9: 56,374,703 (GRCm39)	S20T	possibly damaging	Het
Hs3st1	A	T	5: 39,772,148 (GRCm39)	L165*	probably null	Het
Ighv1-26	A	G	12: 114,752,409 (GRCm39)	I6T	probably benign	Het
Kcnk13	A	G	12: 100,027,974 (GRCm39)	K350E	probably damaging	Het
Lin9	T	A	1: 180,493,416 (GRCm39)	L198*	probably null	Het
Lrfn5	C	T	12: 61,887,505 (GRCm39)	A431V	probably benign	Het
Lta	C	T	17: 35,423,065 (GRCm39)	R86Q	probably benign	Het
Map3k4	T	A	17: 12,467,861 (GRCm39)	I1058L	probably damaging	Het
Mtif2	T	A	11: 29,490,834 (GRCm39)	S513T	probably benign	Het
Muc4	C	T	16: 32,570,032 (GRCm39)	T364I	possibly damaging	Het
Nfrkb	T	C	9: 31,321,547 (GRCm39)	V748A	probably benign	Het
Obox6	A	T	7: 15,568,738 (GRCm39)	M46K	possibly damaging	Het
Or5g25	T	C	2: 85,478,336 (GRCm39)	T110A	probably benign	Het
Or5k1b	T	C	16: 58,581,105 (GRCm39)	I145V	probably benign	Het
Or5t17	C	T	2: 86,832,510 (GRCm39)	R66W	possibly damaging	Het
Or6c33	G	A	10: 129,853,416 (GRCm39)	R62Q	probably damaging	Het
Or9g19	G	T	2: 85,600,405 (GRCm39)	E87*	probably null	Het
P4htm	A	G	9: 108,456,971 (GRCm39)	V412A	possibly damaging	Het
Phb2	T	C	6: 124,690,086 (GRCm39)	S92P	probably damaging	Het
Phtf1	G	T	3: 103,894,751 (GRCm39)	R147L	probably damaging	Het
Pigk	C	T	3: 152,448,203 (GRCm39)	Q189*	probably null	Het
Plxnc1	G	A	10: 94,703,330 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Ptprg	G	A	14: 12,213,713 (GRCm38)	G252D	probably damaging	Het
Rnf4	G	T	5: 34,508,147 (GRCm39)	V134F	possibly damaging	Het
Scarf2	A	G	16: 17,620,877 (GRCm39)	T182A	probably damaging	Het
Setd1a	A	G	7: 127,396,502 (GRCm39)		probably benign	Het
Sgpp1	A	G	12: 75,781,713 (GRCm39)	F209L	probably benign	Het
Sh3d19	T	A	3: 86,024,171 (GRCm39)	S567T	possibly damaging	Het
Slc4a2	C	T	5: 24,639,878 (GRCm39)	R520W	probably damaging	Het
Slf1	T	C	13: 77,194,751 (GRCm39)	Q858R	probably damaging	Het
Slitrk3	G	T	3: 72,956,852 (GRCm39)	A640E	probably benign	Het
Smarca2	A	G	19: 26,608,073 (GRCm39)	Y44C	probably damaging	Het
Spon1	A	G	7: 113,632,306 (GRCm39)	E543G	possibly damaging	Het
Strn4	A	G	7: 16,562,719 (GRCm39)	Q286R	possibly damaging	Het
Suz12	T	C	11: 79,892,988 (GRCm39)		probably benign	Het
Syna	T	A	5: 134,587,440 (GRCm39)	E503V	probably damaging	Het
Syt14	C	T	1: 192,613,094 (GRCm39)	D569N	probably damaging	Het
Sytl2	A	G	7: 90,030,457 (GRCm39)		probably benign	Het
Tmprss11g	G	T	5: 86,637,091 (GRCm39)	S335*	probably null	Het
Tmprss11g	A	T	5: 86,637,092 (GRCm39)	S335T	probably damaging	Het
Trim66	A	G	7: 109,082,276 (GRCm39)	S226P	probably damaging	Het
Tubgcp3	T	C	8: 12,707,654 (GRCm39)	T112A	probably benign	Het
Ulk4	T	C	9: 121,092,791 (GRCm39)	S149G	probably benign	Het
Usp53	T	C	3: 122,756,582 (GRCm39)	D108G	probably null	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly 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
R4361:Nav1	UTSW	1	135,535,175 (GRCm39)	unclassified	probably benign
R4610:Nav1	UTSW	1	135,520,186 (GRCm39)	intron	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'- TTGATCTCGGCACAGTTCCC -3'
(R):5'- GTAGAAAGCCTTCCCAGCTC -3'

Sequencing Primer
(F):5'- GGCACAGTTCCCCCTTTC -3'
(R):5'- TCTCCAGTCAGGCAGGATC -3'

Posted On

2015-11-11