Incidental Mutation 'R0463:Nav1'
ID 41448
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R0463 (G1)
Quality Score 137
Status Not validated
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135379945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1586 (V1586F)
Ref Sequence ENSEMBL: ENSMUSP00000067241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040599] [ENSMUST00000067414] [ENSMUST00000190298]
AlphaFold Q8CH77
Predicted Effect possibly damaging
Transcript: ENSMUST00000040599
AA Change: V1586F

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: V1586F

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 possibly damaging
Transcript: ENSMUST00000067414
AA Change: V1586F

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: V1586F

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 noncoding transcript
Transcript: ENSMUST00000175639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187311
Predicted Effect probably benign
Transcript: ENSMUST00000189252
Predicted Effect unknown
Transcript: ENSMUST00000190298
AA Change: V1526F
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: V1526F

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Ada T A 2: 163,572,271 (GRCm39) I243F probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Il5ra A T 6: 106,708,851 (GRCm39) D296E probably damaging Het
Itk A T 11: 46,222,816 (GRCm39) V551E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Magel2 T A 7: 62,027,778 (GRCm39) H227Q possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Patj G A 4: 98,562,545 (GRCm39) E1505K probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A 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
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
Predicted Primers PCR Primer
(F):5'- TTGACAGCACTGACAGAGTGCAG -3'
(R):5'- CCATGATGCAGCACTACATCAGCCT -3'

Sequencing Primer
(F):5'- ggggaggagaaaagagatgac -3'
(R):5'- TACATCAGCCTCCTGCTCAAG -3'
Posted On 2013-05-23