Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Nav1'

589365

Institutional Source

Beutler Lab

Gene Symbol

Nav1

Ensembl Gene

ENSMUSG00000009418

Gene Name

neuron navigator 1

Synonyms

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

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135362318-135615843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 135395483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 962 (S962C)

Ref Sequence

ENSEMBL: ENSMUSP00000140322 (fasta)

Gene Model

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

AlphaFold

Q8CH77

Predicted Effect

probably damaging
Transcript: ENSMUST00000040599
AA Change: S962C

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

SMART Domains

Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: S962C

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: S962C

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

SMART Domains

Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: S962C

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

probably damaging
Transcript: ENSMUST00000190298
AA Change: S962C

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

SMART Domains

Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: S962C

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

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
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	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
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
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'- AGGAGCCAAAATGCCTAGTTG -3'
(R):5'- GAGCTTTCAGGGGACAATCC -3'

Sequencing Primer
(F):5'- GAGCCAAAATGCCTAGTTGTTTTGC -3'
(R):5'- GACAATCCTGGGTTGCCTC -3'

Posted On

2019-10-24