Incidental Mutation 'R1895:Nav1'
ID 209707
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
MMRRC Submission 039915-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R1895 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135386396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1211 (W1211R)
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: W1211R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: W1211R

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: W1211R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: W1211R

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 unknown
Transcript: ENSMUST00000189252
AA Change: W217R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190130
Predicted Effect unknown
Transcript: ENSMUST00000190298
AA Change: W1154R
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: W1154R

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
Meta Mutation Damage Score 0.7802 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.2%
  • 20x: 86.6%
Validation Efficiency 96% (100/104)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adgrb1 A G 15: 74,412,314 (GRCm39) D431G probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Akr1b10 T A 6: 34,365,805 (GRCm39) I110N probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgef12 G T 9: 42,917,152 (GRCm39) Q396K probably damaging Het
Arpc1b A G 5: 145,059,443 (GRCm39) T56A probably null Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Capn13 T C 17: 73,657,520 (GRCm39) E240G possibly damaging Het
Cdh8 T C 8: 100,006,189 (GRCm39) T133A possibly damaging Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Col4a3 A T 1: 82,656,829 (GRCm39) K749N unknown Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Dmxl1 G T 18: 50,088,981 (GRCm39) probably null Het
Dnah10 A G 5: 124,835,494 (GRCm39) D990G probably benign Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Eif3l A G 15: 78,973,677 (GRCm39) N364S possibly damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Glmn T C 5: 107,718,110 (GRCm39) D269G probably benign Het
Gpatch4 A G 3: 87,959,409 (GRCm39) Y106C probably damaging Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Hdac7 T C 15: 97,694,767 (GRCm39) D701G probably damaging Het
Hectd2 T A 19: 36,591,860 (GRCm39) I687K probably damaging Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Ilf3 T A 9: 21,316,063 (GRCm39) probably benign Het
Kdm4b T A 17: 56,704,340 (GRCm39) V272E probably damaging Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kif11 G A 19: 37,375,847 (GRCm39) R220K probably damaging Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Muc5b A C 7: 141,411,382 (GRCm39) T1443P unknown Het
Mxi1 G A 19: 53,358,775 (GRCm39) R236H probably benign Het
Ncoa3 T A 2: 165,901,097 (GRCm39) N896K possibly damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Nxpe5 T C 5: 138,249,785 (GRCm39) V525A probably damaging Het
Oas1f A T 5: 120,993,648 (GRCm39) T287S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or6ae1 T A 7: 139,742,726 (GRCm39) I46F possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Pakap T C 4: 57,638,068 (GRCm39) V35A probably benign Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Plekha7 T C 7: 115,744,209 (GRCm39) E764G probably damaging Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Prob1 T A 18: 35,785,942 (GRCm39) T771S possibly damaging Het
Rasa3 A G 8: 13,681,768 (GRCm39) probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Slc11a2 G A 15: 100,301,775 (GRCm39) R249C probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Stil T C 4: 114,881,072 (GRCm39) S539P probably benign Het
Syt4 T C 18: 31,577,141 (GRCm39) K71R probably damaging Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tex30 C T 1: 44,130,564 (GRCm39) G68D probably damaging Het
Tm4sf19 A G 16: 32,226,500 (GRCm39) Y138C probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Tshz1 A T 18: 84,031,558 (GRCm39) L950Q probably damaging Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K 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
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'- ATCAGTAGGTAGAGCCCCAG -3'
(R):5'- TAGCTAGCCTCTCCCTAAGC -3'

Sequencing Primer
(F):5'- GCCCCAGGATAGCAGACATG -3'
(R):5'- AAGCCTCGCATCTTCTCTAAATC -3'
Posted On 2014-06-30