Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02378:Nav1'

291233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL02378

Quality Score

Status

Chromosome

Chromosomal Location

135362318-135615843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135397716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 818 (D818N)

Ref Sequence

ENSEMBL: ENSMUSP00000140322 (fasta)

Gene Model

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

AlphaFold

Q8CH77

Predicted Effect

probably benign
Transcript: ENSMUST00000040599
AA Change: D818N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: D818N

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 benign
Transcript: ENSMUST00000067414
AA Change: D818N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: D818N

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 benign
Transcript: ENSMUST00000189252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190130

Predicted Effect

probably benign
Transcript: ENSMUST00000190298
AA Change: D818N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: D818N

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,080,424 (GRCm39)	T414I	probably benign	Het
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acer2	A	T	4: 86,804,491 (GRCm39)	T69S	probably benign	Het
Adcy2	A	G	13: 68,878,411 (GRCm39)	V409A	probably damaging	Het
Anks3	T	A	16: 4,768,626 (GRCm39)	Y239F	possibly damaging	Het
Arhgap42	G	A	9: 9,035,584 (GRCm39)	H253Y	possibly damaging	Het
Asb18	A	T	1: 89,920,710 (GRCm39)	L189Q	probably damaging	Het
C3	T	C	17: 57,519,698 (GRCm39)	R1185G	probably benign	Het
Cdca7l	T	A	12: 117,835,862 (GRCm39)	V66E	possibly damaging	Het
Cdrt4	G	T	11: 62,883,534 (GRCm39)	E79*	probably null	Het
Cep57	A	C	9: 13,732,842 (GRCm39)	Y34*	probably null	Het
Cep63	A	T	9: 102,473,314 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,144,721 (GRCm39)	I516K	possibly damaging	Het
Dnah10	A	G	5: 124,850,131 (GRCm39)	E1551G	probably damaging	Het
Dysf	T	C	6: 84,088,887 (GRCm39)	I843T	probably damaging	Het
Gabra1	C	A	11: 42,031,082 (GRCm39)	V283F	probably damaging	Het
Hcfc2	T	C	10: 82,544,905 (GRCm39)	I179T	possibly damaging	Het
Htr2c	G	A	X: 145,976,755 (GRCm39)		probably benign	Het
Irgc	G	A	7: 24,131,500 (GRCm39)	T439I	probably benign	Het
Itgae	T	A	11: 73,008,947 (GRCm39)	L476H	probably benign	Het
Jarid2	A	C	13: 45,067,801 (GRCm39)	K1070T	probably damaging	Het
Lama2	A	G	10: 26,919,652 (GRCm39)	I2193T	probably damaging	Het
Med19	A	G	2: 84,515,625 (GRCm39)	E103G	probably damaging	Het
Nom1	G	T	5: 29,656,124 (GRCm39)	E830*	probably null	Het
Or10g9b	T	G	9: 39,917,769 (GRCm39)	T159P	probably damaging	Het
Or5b98	A	C	19: 12,931,747 (GRCm39)	S265R	probably benign	Het
Orai3	G	T	7: 127,369,333 (GRCm39)	R58L	probably damaging	Het
Osbpl8	T	A	10: 111,118,006 (GRCm39)	M583K	possibly damaging	Het
Pik3cb	A	T	9: 98,944,893 (GRCm39)	M624K	probably benign	Het
Rars2	G	A	4: 34,656,199 (GRCm39)	R451H	possibly damaging	Het
Rgs22	A	G	15: 36,103,951 (GRCm39)	L170P	probably benign	Het
Rps6kl1	C	A	12: 85,185,448 (GRCm39)	D417Y	probably damaging	Het
Senp6	A	G	9: 80,033,674 (GRCm39)	D106G	probably damaging	Het
Setx	C	T	2: 29,063,738 (GRCm39)		probably benign	Het
Sfswap	T	A	5: 129,616,668 (GRCm39)	Y371N	probably damaging	Het
Slc24a3	C	T	2: 145,360,322 (GRCm39)	R141C	possibly damaging	Het
Sorcs1	C	T	19: 50,171,109 (GRCm39)	W926*	probably null	Het
Steap4	A	G	5: 8,026,741 (GRCm39)	T235A	probably benign	Het
Tead2	T	A	7: 44,867,571 (GRCm39)		probably null	Het
Tll1	A	T	8: 64,470,660 (GRCm39)	L921*	probably null	Het
Tnfrsf19	T	A	14: 61,208,451 (GRCm39)	T357S	probably benign	Het
Tnik	C	A	3: 28,692,608 (GRCm39)	S825*	probably null	Het
Vil1	T	A	1: 74,469,850 (GRCm39)		probably null	Het
Vmn2r106	T	C	17: 20,497,791 (GRCm39)	K483E	probably damaging	Het
Vwa5a	G	A	9: 38,645,266 (GRCm39)	M450I	probably benign	Het
Xirp2	C	T	2: 67,344,112 (GRCm39)	P2118S	probably benign	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
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
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

Posted On

2015-04-16