Incidental Mutation 'R7361:Nav1'
ID 571296
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
MMRRC Submission 045447-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R7361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135380591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1443 (M1443V)
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: M1503V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: M1503V

DomainStartEndE-ValueType
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: M1503V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: M1503V

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000190298
AA Change: M1443V
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: M1443V

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik C T 6: 132,604,434 (GRCm39) V4I unknown Het
Actn1 A T 12: 80,240,489 (GRCm39) D199E probably benign Het
Adam17 T C 12: 21,375,602 (GRCm39) D739G probably damaging Het
Agmat T C 4: 141,474,163 (GRCm39) S15P probably benign Het
Ahsa2 A G 11: 23,441,099 (GRCm39) S229P probably damaging Het
Arhgef3 A G 14: 26,987,535 (GRCm39) D36G possibly damaging Het
C6 C A 15: 4,826,404 (GRCm39) Y662* probably null Het
Ccs T C 19: 4,883,378 (GRCm39) D140G probably benign Het
Cdc42bpb A G 12: 111,312,039 (GRCm39) L65P probably damaging Het
Cdh24 A T 14: 54,876,378 (GRCm39) V149E possibly damaging Het
Cdk12 C A 11: 98,101,294 (GRCm39) S384* probably null Het
Cep350 G A 1: 155,777,237 (GRCm39) A1701V probably damaging Het
Ces1g T C 8: 94,060,307 (GRCm39) Q104R not run Het
Chd5 A G 4: 152,447,745 (GRCm39) H537R probably damaging Het
Cln5 T A 14: 103,313,339 (GRCm39) V197D probably damaging Het
Coq7 A G 7: 118,128,798 (GRCm39) V79A probably benign Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Cplx2 A T 13: 54,526,639 (GRCm39) M16L probably benign Het
Crot A G 5: 9,027,534 (GRCm39) L266S probably damaging Het
Ctbs T A 3: 146,164,509 (GRCm39) Y221N probably damaging Het
Cul7 T A 17: 46,967,933 (GRCm39) L707Q probably damaging Het
D430041D05Rik G A 2: 104,085,363 (GRCm39) T378I possibly damaging Het
Dixdc1 T C 9: 50,599,953 (GRCm39) I364V probably damaging Het
Dnah11 T A 12: 117,982,477 (GRCm39) H2564L probably damaging Het
Dnajc3 T C 14: 119,175,576 (GRCm39) Y26H probably benign Het
Dpysl2 G A 14: 67,071,664 (GRCm39) H159Y possibly damaging Het
Ehmt1 T A 2: 24,746,713 (GRCm39) K423I possibly damaging Het
Eif1ad4 A G 12: 87,862,170 (GRCm39) N11D unknown Het
Enpp7 A G 11: 118,882,985 (GRCm39) N353S probably benign Het
Ext1 G A 15: 53,208,119 (GRCm39) A214V probably damaging Het
Fbh1 A T 2: 11,751,887 (GRCm39) I937N probably damaging Het
Fbxo39 T C 11: 72,207,800 (GRCm39) Y51H possibly damaging Het
Firrm A T 1: 163,813,602 (GRCm39) D207E possibly damaging Het
Fry A G 5: 150,360,312 (GRCm39) H1986R possibly damaging Het
Grem2 T C 1: 174,664,514 (GRCm39) K112E probably benign Het
Gucy1a1 A G 3: 82,005,027 (GRCm39) V586A probably damaging Het
Il12rb2 G T 6: 67,280,450 (GRCm39) L586I possibly damaging Het
Il18 T C 9: 50,490,614 (GRCm39) I83T probably damaging Het
Irs1 A T 1: 82,266,835 (GRCm39) Y460* probably null Het
Jak1 G T 4: 101,041,536 (GRCm39) Q161K possibly damaging Het
Jakmip1 T A 5: 37,276,148 (GRCm39) L486Q probably damaging Het
Jmjd1c C A 10: 67,054,143 (GRCm39) Q16K probably benign Het
Kidins220 T C 12: 25,106,999 (GRCm39) L1393P probably benign Het
Klhl24 A C 16: 19,936,750 (GRCm39) I453L probably benign Het
Krtap2-4 C T 11: 99,505,420 (GRCm39) D64N probably damaging Het
Man1a T A 10: 53,784,105 (GRCm39) D592V probably damaging Het
Mepe T A 5: 104,485,009 (GRCm39) Y50N probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Muc4 T A 16: 32,754,670 (GRCm38) S1515T probably benign Het
Nalcn T C 14: 123,529,251 (GRCm39) D1408G probably benign Het
Nckap1l A C 15: 103,379,709 (GRCm39) N332T possibly damaging Het
Neurl4 T A 11: 69,802,905 (GRCm39) L1467Q probably benign Het
Notch2 A G 3: 98,038,718 (GRCm39) N1287S probably benign Het
Nr4a3 C T 4: 48,083,203 (GRCm39) P579S probably benign Het
Nrxn2 A T 19: 6,567,112 (GRCm39) H1329L probably benign Het
Nynrin A T 14: 56,107,857 (GRCm39) H988L possibly damaging Het
Or1e34 T A 11: 73,778,827 (GRCm39) I124F probably damaging Het
Or4c31 A G 2: 88,291,836 (GRCm39) T70A probably benign Het
Or4c3d A G 2: 89,882,089 (GRCm39) I193T probably benign Het
Or52e3 G T 7: 102,869,830 (GRCm39) D302Y possibly damaging Het
Or7g35 T A 9: 19,495,856 (GRCm39) F8I probably benign Het
Pclo G A 5: 14,843,882 (GRCm39) S1534N probably damaging Het
Pign A G 1: 105,512,778 (GRCm39) V635A probably benign Het
Pkhd1 T C 1: 20,664,177 (GRCm39) T134A probably damaging Het
Plcb4 A T 2: 135,818,068 (GRCm39) N790I possibly damaging Het
Plxna2 G T 1: 194,482,087 (GRCm39) C1453F probably damaging Het
Plxna4 A G 6: 32,173,057 (GRCm39) probably null Het
Pnpla2 A G 7: 141,037,344 (GRCm39) I116V possibly damaging Het
Polq A G 16: 36,880,790 (GRCm39) T985A probably benign Het
Pramel11 T C 4: 143,622,456 (GRCm39) T300A possibly damaging Het
Prex1 T C 2: 166,555,490 (GRCm39) N50S probably benign Het
Ptgfrn G A 3: 100,984,760 (GRCm39) A144V probably benign Het
Rad54b G A 4: 11,599,782 (GRCm39) G329S probably damaging Het
Rrbp1 A G 2: 143,809,364 (GRCm39) L931S probably benign Het
Saxo4 T G 19: 10,456,943 (GRCm39) D134A probably damaging Het
Sipa1l2 A G 8: 126,180,071 (GRCm39) S1109P probably damaging Het
Slc26a7 G T 4: 14,546,305 (GRCm39) N341K probably damaging Het
Smg1 A C 7: 117,784,200 (GRCm39) D958E unknown Het
Smg6 T A 11: 74,820,979 (GRCm39) S417T probably benign Het
Srgap3 A G 6: 112,723,882 (GRCm39) V550A probably damaging Het
Terb1 T A 8: 105,195,431 (GRCm39) D570V probably damaging Het
Tet3 A G 6: 83,345,076 (GRCm39) V1787A probably benign Het
Tor1a A T 2: 30,853,753 (GRCm39) D192E probably benign Het
Tpr T C 1: 150,323,372 (GRCm39) S2379P possibly damaging Het
Trip12 A T 1: 84,728,163 (GRCm39) F1138L probably damaging Het
Trpv1 T C 11: 73,151,203 (GRCm39) L797P probably damaging Het
Tut1 T C 19: 8,942,698 (GRCm39) L595P probably damaging Het
Ubl7 T C 9: 57,821,905 (GRCm39) S85P probably damaging Het
Urb1 C A 16: 90,571,656 (GRCm39) S1051I probably damaging Het
Usp17le A G 7: 104,418,084 (GRCm39) W353R probably damaging Het
Usp44 T C 10: 93,682,330 (GRCm39) L260S probably benign Het
Wsb1 T A 11: 79,131,623 (GRCm39) probably null Het
Xrcc2 A T 5: 25,897,755 (GRCm39) C65S probably damaging Het
Zfp316 T A 5: 143,240,430 (GRCm39) M530L probably benign Het
Zfp473 T C 7: 44,382,563 (GRCm39) H590R probably damaging Het
Zfp983 T A 17: 21,880,850 (GRCm39) H259Q probably damaging Het
Other mutations in Nav1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAAGCTCCTTCAAGTTCAGAATTTC -3'
(R):5'- AGAAGGATGCACATTGCCTG -3'

Sequencing Primer
(F):5'- TCCTTCAAGTTCAGAATTTCTCAAC -3'
(R):5'- GGATGCACATTGCCTGGTCTTC -3'
Posted On 2019-09-13