Incidental Mutation 'R1939:Nav1'
ID 213775
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
MMRRC Submission 039957-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R1939 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135393636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1034 (L1034Q)
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: L1034Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: L1034Q

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 damaging
Transcript: ENSMUST00000067414
AA Change: L1034Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: L1034Q

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 unknown
Transcript: ENSMUST00000189252
AA Change: L48Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190130
Predicted Effect probably benign
Transcript: ENSMUST00000190298
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190735
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,130 (GRCm39) W11R probably damaging Het
2700049A03Rik A G 12: 71,207,186 (GRCm39) probably null Het
4933409G03Rik T C 2: 68,419,328 (GRCm39) S26P possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acot3 A G 12: 84,105,325 (GRCm39) N264S probably benign Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam22 A T 5: 8,380,015 (GRCm39) F94L probably damaging Het
Adarb2 T C 13: 8,253,358 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,802,755 (GRCm39) M98V possibly damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atp8b3 A T 10: 80,361,220 (GRCm39) C785* probably null Het
Birc6 T C 17: 74,977,332 (GRCm39) S4362P probably damaging Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cntnap5b A G 1: 99,895,073 (GRCm39) H115R probably benign Het
Col23a1 A G 11: 51,442,816 (GRCm39) D159G unknown Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Dnase2a G T 8: 85,637,524 (GRCm39) A309S possibly damaging Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Engase T A 11: 118,370,012 (GRCm39) N97K probably damaging Het
Fam83b A T 9: 76,400,362 (GRCm39) M247K probably damaging Het
Fer T C 17: 64,280,123 (GRCm39) S65P probably damaging Het
Fgf10 A G 13: 118,925,688 (GRCm39) R156G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm904 T C 13: 50,798,772 (GRCm39) probably null Het
Gpat2 T A 2: 127,277,879 (GRCm39) *802K probably null Het
Hcfc2 G T 10: 82,538,284 (GRCm39) R107L probably damaging Het
Itga8 T G 2: 12,305,657 (GRCm39) D111A probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lgals8 T G 13: 12,474,069 (GRCm39) I10L probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Mcpt1 A T 14: 56,256,546 (GRCm39) K94I possibly damaging Het
Mpnd T C 17: 56,322,920 (GRCm39) F384S probably damaging Het
Mrgprb5 A T 7: 47,818,686 (GRCm39) N16K probably benign Het
Myo15b A G 11: 115,778,529 (GRCm39) T1139A probably benign Het
Nat8f5 A C 6: 85,794,801 (GRCm39) I53R possibly damaging Het
Nudt6 T C 3: 37,459,379 (GRCm39) Y54C probably damaging Het
Or10j3b G T 1: 173,043,499 (GRCm39) A94S probably benign Het
Or5p58 A G 7: 107,694,348 (GRCm39) V143A probably benign Het
Or6c217 A C 10: 129,737,970 (GRCm39) M203R probably damaging Het
Or8b35 A G 9: 37,904,385 (GRCm39) N199S probably benign Het
Or8c15 T A 9: 38,120,725 (GRCm39) Y72* probably null Het
Osbpl8 A T 10: 111,125,672 (GRCm39) H784L probably benign Het
Osr1 T G 12: 9,629,687 (GRCm39) S187A probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pkd1l2 G T 8: 117,772,921 (GRCm39) Y1035* probably null Het
Pla2g15 A G 8: 106,889,927 (GRCm39) T400A probably damaging Het
Pms1 A C 1: 53,236,135 (GRCm39) L715R probably damaging Het
Prkd1 T C 12: 50,441,777 (GRCm39) N254S probably benign Het
Prkdc T C 16: 15,653,777 (GRCm39) V3868A possibly damaging Het
Ptprt T C 2: 161,769,560 (GRCm39) N435S probably benign Het
Purb T C 11: 6,424,943 (GRCm39) E315G unknown Het
Rap1b A T 10: 117,654,491 (GRCm39) N116K probably damaging Het
Rmc1 T C 18: 12,313,562 (GRCm39) L15P probably damaging Het
Rp1l1 A G 14: 64,267,042 (GRCm39) N876S probably benign Het
Rps6ka4 T A 19: 6,816,834 (GRCm39) I114F probably damaging Het
Semp2l1 T C 1: 32,584,627 (GRCm39) I428V probably damaging Het
Sh3bp2 A G 5: 34,708,963 (GRCm39) N19D probably damaging Het
Slc16a4 A G 3: 107,208,317 (GRCm39) M276V probably benign Het
Slc17a1 A G 13: 24,059,864 (GRCm39) T172A probably benign Het
Slc4a7 C T 14: 14,748,581 (GRCm38) A320V probably damaging Het
Slco1a6 T A 6: 142,078,956 (GRCm39) Y113F probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St3gal6 A T 16: 58,293,924 (GRCm39) probably null Het
Tdp2 A G 13: 25,025,260 (GRCm39) D343G probably benign Het
Tecpr2 T A 12: 110,899,603 (GRCm39) L657Q probably damaging Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Trappc6a T A 7: 19,248,426 (GRCm39) F28I probably damaging Het
Trim32 G A 4: 65,532,303 (GRCm39) V287I probably benign Het
Trpd52l3 T C 19: 29,981,289 (GRCm39) S15P probably damaging Het
Tsnaxip1 A G 8: 106,566,670 (GRCm39) I169V probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttll11 T A 2: 35,830,765 (GRCm39) Q18L probably null Het
Ttll8 A T 15: 88,799,689 (GRCm39) I584N probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ucp3 T C 7: 100,129,871 (GRCm39) V171A probably benign Het
Vmn1r174 T A 7: 23,453,532 (GRCm39) I66N probably damaging Het
Vmn2r13 T C 5: 109,339,852 (GRCm39) D41G possibly damaging Het
Vmn2r4 T C 3: 64,305,976 (GRCm39) D393G probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp976 C A 7: 42,263,105 (GRCm39) C244F unknown Het
Zmym5 A G 14: 57,036,577 (GRCm39) V190A 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
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
Predicted Primers PCR Primer
(F):5'- GCCCAAGTTGATGTCCTGTG -3'
(R):5'- TAACCTCCAGCTGCTTGCAC -3'

Sequencing Primer
(F):5'- GCCCAAGTTGATGTCCTGTGAAATC -3'
(R):5'- ACCAGAGAGCTGATGACCCTG -3'
Posted On 2014-07-14