Incidental Mutation 'IGL01872:Nav1'
ID 178749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL01872
Quality Score
Status
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135381814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1423 (V1423A)
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: V1423A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: V1423A

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: V1423A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: V1423A

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 noncoding transcript
Transcript: ENSMUST00000189362
Predicted Effect unknown
Transcript: ENSMUST00000190298
AA Change: V1363A
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: V1363A

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: ENSMUST00000190130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190735
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Chmp1a A T 8: 123,932,976 (GRCm39) L159Q probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Fgf4 C T 7: 144,415,995 (GRCm39) R119* probably null Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,176 (GRCm39) L4P possibly damaging Het
Or52ab2 T C 7: 102,970,179 (GRCm39) V187A probably benign Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Slc5a1 T C 5: 33,311,981 (GRCm39) S458P probably damaging Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign 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
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
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
Posted On 2014-05-07