Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Nav1'

102805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

135434580-135607295 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135454760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1321 (D1321E)

Ref Sequence

ENSEMBL: ENSMUSP00000067241 (fasta)

Gene Model

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

AlphaFold

Q8CH77

Predicted Effect

probably damaging
Transcript: ENSMUST00000040599
AA Change: D1321E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: D1321E

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

probably damaging
Transcript: ENSMUST00000067414
AA Change: D1321E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: D1321E

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: ENSMUST00000175639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187311

Predicted Effect

probably benign
Transcript: ENSMUST00000189252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190130

Predicted Effect

unknown
Transcript: ENSMUST00000190298
AA Change: D1261E

SMART Domains

Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: D1261E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190735

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Nav1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Nav1	APN	1	135450630	missense	probably damaging	1.00
IGL01455:Nav1	APN	1	135469635	missense	probably benign	0.44
IGL01872:Nav1	APN	1	135454076	missense	probably damaging	1.00
IGL01967:Nav1	APN	1	135537245	missense	probably damaging	1.00
IGL02167:Nav1	APN	1	135470961	missense	probably damaging	1.00
IGL02278:Nav1	APN	1	135463714	splice site	probably benign
IGL02343:Nav1	APN	1	135454752	nonsense	probably null
IGL02378:Nav1	APN	1	135469978	missense	probably benign	0.02
IGL02554:Nav1	APN	1	135584913	synonymous	silent
IGL03148:Nav1	APN	1	135470024	missense	possibly damaging	0.94
IGL03286:Nav1	APN	1	135454536	missense	probably benign
IGL03372:Nav1	APN	1	135450903	missense	probably damaging	0.99
PIT4802001:Nav1	UTSW	1	135452933	missense	unknown
R0388:Nav1	UTSW	1	135448917	splice site	probably benign
R0390:Nav1	UTSW	1	135449966	missense	possibly damaging	0.80
R0395:Nav1	UTSW	1	135532621	nonsense	probably null
R0395:Nav1	UTSW	1	135532623	missense	probably damaging	0.97
R0416:Nav1	UTSW	1	135471126	missense	possibly damaging	0.73
R0463:Nav1	UTSW	1	135452207	missense	possibly damaging	0.76
R0538:Nav1	UTSW	1	135464692	splice site	probably benign
R0594:Nav1	UTSW	1	135467643	missense	possibly damaging	0.74
R0696:Nav1	UTSW	1	135532614	missense	probably damaging	0.99
R0699:Nav1	UTSW	1	135452949	missense	probably benign	0.00
R0759:Nav1	UTSW	1	135455260	missense	possibly damaging	0.73
R1164:Nav1	UTSW	1	135472410	missense	probably benign
R1169:Nav1	UTSW	1	135455205	missense	probably damaging	1.00
R1401:Nav1	UTSW	1	135460425	missense	probably benign	0.20
R1421:Nav1	UTSW	1	135585010	missense	probably damaging	1.00
R1642:Nav1	UTSW	1	135452272	missense	probably damaging	1.00
R1705:Nav1	UTSW	1	135584599	missense	probably damaging	1.00
R1713:Nav1	UTSW	1	135595234	intron	probably benign
R1728:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1729:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1730:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1739:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1740:Nav1	UTSW	1	135458389	critical splice donor site	probably null
R1762:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1783:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1784:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1785:Nav1	UTSW	1	135584727	missense	possibly damaging	0.82
R1895:Nav1	UTSW	1	135458658	missense	probably damaging	1.00
R1896:Nav1	UTSW	1	135460737	missense	probably benign	0.00
R1901:Nav1	UTSW	1	135472410	missense	probably benign	0.03
R1902:Nav1	UTSW	1	135472410	missense	probably benign	0.03
R1925:Nav1	UTSW	1	135607229	utr 5 prime	probably benign
R1939:Nav1	UTSW	1	135465898	missense	probably damaging	1.00
R1971:Nav1	UTSW	1	135532353	missense	probably benign	0.06
R2063:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2066:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2084:Nav1	UTSW	1	135607420	unclassified	probably benign
R2090:Nav1	UTSW	1	135607165	utr 5 prime	probably benign
R2107:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2110:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2111:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2112:Nav1	UTSW	1	135449004	missense	probably damaging	1.00
R2136:Nav1	UTSW	1	135454436	missense	probably null	0.18
R2268:Nav1	UTSW	1	135472236	nonsense	probably null
R2269:Nav1	UTSW	1	135472236	nonsense	probably null
R2847:Nav1	UTSW	1	135450644	splice site	probably null
R2869:Nav1	UTSW	1	135460757	synonymous	silent
R2871:Nav1	UTSW	1	135460757	synonymous	silent
R2872:Nav1	UTSW	1	135460757	synonymous	silent
R2904:Nav1	UTSW	1	135585238	missense	probably benign
R3690:Nav1	UTSW	1	135467644	missense	probably benign	0.11
R3716:Nav1	UTSW	1	135450630	missense	probably damaging	1.00
R3717:Nav1	UTSW	1	135450630	missense	probably damaging	1.00
R3718:Nav1	UTSW	1	135450630	missense	probably damaging	1.00
R3815:Nav1	UTSW	1	135471124	missense	possibly damaging	0.95
R4282:Nav1	UTSW	1	135457913	intron	probably benign
R4361:Nav1	UTSW	1	135607437	unclassified	probably benign
R4610:Nav1	UTSW	1	135592448	intron	probably benign
R4730:Nav1	UTSW	1	135607311	unclassified	probably benign
R4784:Nav1	UTSW	1	135458739	missense	probably damaging	1.00
R4788:Nav1	UTSW	1	135469723	missense	probably benign
R4808:Nav1	UTSW	1	135455204	missense	probably damaging	1.00
R4996:Nav1	UTSW	1	135465971	missense	probably damaging	1.00
R5284:Nav1	UTSW	1	135449963	nonsense	probably null
R5514:Nav1	UTSW	1	135470561	missense	probably benign	0.04
R5769:Nav1	UTSW	1	135452257	missense	probably damaging	1.00
R5834:Nav1	UTSW	1	135532406	missense	probably benign	0.07
R5898:Nav1	UTSW	1	135585146	missense	probably benign
R6081:Nav1	UTSW	1	135470822	missense	probably damaging	1.00
R6344:Nav1	UTSW	1	135450796	missense	probably damaging	1.00
R6378:Nav1	UTSW	1	135454695	missense	probably damaging	1.00
R7001:Nav1	UTSW	1	135454611	splice site	probably null
R7185:Nav1	UTSW	1	135471008	missense	possibly damaging	0.85
R7291:Nav1	UTSW	1	135465859	missense	probably damaging	1.00
R7361:Nav1	UTSW	1	135452853	missense	unknown
R7390:Nav1	UTSW	1	135584918	missense	probably benign	0.01
R7464:Nav1	UTSW	1	135584909	missense	probably benign	0.03
R7502:Nav1	UTSW	1	135469666	missense	probably damaging	1.00
R7601:Nav1	UTSW	1	135460438	missense	unknown
R7625:Nav1	UTSW	1	135467745	missense	probably damaging	1.00
R7639:Nav1	UTSW	1	135471122	missense	probably benign	0.09
R7786:Nav1	UTSW	1	135469995	missense	probably damaging	1.00
R7808:Nav1	UTSW	1	135452248	missense	unknown
R7815:Nav1	UTSW	1	135584639	missense	possibly damaging	0.49
R7825:Nav1	UTSW	1	135450044	missense	probably damaging	0.98
R8030:Nav1	UTSW	1	135537239	missense	probably damaging	1.00
R8370:Nav1	UTSW	1	135471144	nonsense	probably null
R8405:Nav1	UTSW	1	135454770	missense	unknown
R8720:Nav1	UTSW	1	135460726	missense	unknown
R8868:Nav1	UTSW	1	135585205	missense	probably benign	0.05
R8973:Nav1	UTSW	1	135584725	missense	probably benign	0.01
R9039:Nav1	UTSW	1	135443749	missense	unknown
R9261:Nav1	UTSW	1	135460357	missense	unknown
R9523:Nav1	UTSW	1	135452191	missense	unknown
Z1088:Nav1	UTSW	1	135470724	missense	probably benign	0.01
Z1176:Nav1	UTSW	1	135452886	missense	unknown
Z1176:Nav1	UTSW	1	135472420	missense	probably damaging	1.00
Z1177:Nav1	UTSW	1	135469731	missense	possibly damaging	0.56

Posted On

2014-01-21