Incidental Mutation 'R7502:Nav1'
ID 581510
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms 9930003A20Rik, unc53H1, steerin-1, POMFIL3, C230080M11Rik
MMRRC Submission 045575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R7502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 135362318-135615843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135397404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 922 (W922R)
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: W922R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043803
Gene: ENSMUSG00000009418
AA Change: W922R

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: W922R

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000067241
Gene: ENSMUSG00000009418
AA Change: W922R

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 probably damaging
Transcript: ENSMUST00000190298
AA Change: W922R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140322
Gene: ENSMUSG00000009418
AA Change: W922R

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: 99.1%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,743,951 (GRCm39) T661A probably damaging Het
Actrt2 T C 4: 154,751,383 (GRCm39) Y251C probably benign Het
Adat3 T A 10: 80,442,255 (GRCm39) V31D probably damaging Het
Adgrf4 T C 17: 42,980,548 (GRCm39) H179R possibly damaging Het
Ahcyl1 A T 3: 107,578,513 (GRCm39) Y241* probably null Het
Anks1 C A 17: 28,227,114 (GRCm39) T589K possibly damaging Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Cacna1e A T 1: 154,344,734 (GRCm39) M1130K probably null Het
Ccdc121rt1 G A 1: 181,338,443 (GRCm39) Q170* probably null Het
Ceacam18 A T 7: 43,286,298 (GRCm39) D57V probably damaging Het
Celf1 C T 2: 90,835,100 (GRCm39) Q194* probably null Het
Celsr2 T A 3: 108,306,218 (GRCm39) T2029S probably benign Het
Cep170 T C 1: 176,583,595 (GRCm39) D163G probably damaging Het
Cfap210 A T 2: 69,606,488 (GRCm39) D309E probably benign Het
Cftr T C 6: 18,214,295 (GRCm39) F157S probably damaging Het
Chchd3 T C 6: 32,945,164 (GRCm39) E114G probably damaging Het
Cntnap2 T A 6: 46,460,963 (GRCm39) S666R possibly damaging Het
Col6a5 C T 9: 105,753,075 (GRCm39) V2266I probably benign Het
Ctr9 A G 7: 110,633,133 (GRCm39) D127G probably benign Het
Ctsl A T 13: 64,514,882 (GRCm39) F141I probably damaging Het
Dcpp1 T A 17: 24,101,615 (GRCm39) Y121* probably null Het
Ddx42 T C 11: 106,138,565 (GRCm39) V788A probably benign Het
Ehd4 T C 2: 119,921,874 (GRCm39) I461V probably benign Het
Elp6 C A 9: 110,134,376 (GRCm39) L5I possibly damaging Het
Faap20 T C 4: 155,334,793 (GRCm39) S2P Het
Fam98b A C 2: 117,094,344 (GRCm39) Y218S probably damaging Het
Fbxl4 T A 4: 22,376,655 (GRCm39) D30E probably benign Het
Fcrlb T C 1: 170,736,210 (GRCm39) T189A probably damaging Het
Gfpt1 A G 6: 87,043,671 (GRCm39) D302G probably benign Het
Gzmg T G 14: 56,394,284 (GRCm39) E203D not run Het
Hsph1 A C 5: 149,553,838 (GRCm39) V210G probably damaging Het
Il20rb A T 9: 100,350,479 (GRCm39) M138K probably damaging Het
Itpr1 A T 6: 108,360,639 (GRCm39) E688D probably benign Het
Jmjd1c T G 10: 67,067,794 (GRCm39) S1585A probably damaging Het
Kcnk3 A T 5: 30,780,062 (GRCm39) T371S possibly damaging Het
Kif11 T A 19: 37,398,255 (GRCm39) S694T possibly damaging Het
Kpna7 T A 5: 144,942,731 (GRCm39) H85L probably benign Het
Lipf A T 19: 33,954,006 (GRCm39) I366F probably damaging Het
Lrrc27 A G 7: 138,794,748 (GRCm39) H37R probably benign Het
Mki67 T C 7: 135,302,512 (GRCm39) T841A possibly damaging Het
Mtss1 A G 15: 58,820,210 (GRCm39) S120P probably damaging Het
Nwd1 A G 8: 73,434,021 (GRCm39) E1206G probably damaging Het
Obscn T C 11: 58,885,635 (GRCm39) S7933G unknown Het
Or13j1 T C 4: 43,706,316 (GRCm39) H84R probably damaging Het
Or1p4-ps1 T C 11: 74,208,010 (GRCm39) V53A probably benign Het
Or2g25 T A 17: 37,971,122 (GRCm39) Y34F probably damaging Het
Or2k2 T C 4: 58,785,648 (GRCm39) I25V probably benign Het
Or4c52 T C 2: 89,845,355 (GRCm39) L27S probably benign Het
Otog A T 7: 45,948,039 (GRCm39) I162F probably damaging Het
Paf1 G A 7: 28,095,293 (GRCm39) V153I possibly damaging Het
Pcdhga11 T A 18: 37,889,554 (GRCm39) D187E probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitrm1 G T 13: 6,610,658 (GRCm39) R424L probably damaging Het
Pla2g4e T A 2: 120,004,819 (GRCm39) probably null Het
Plaat1 T C 16: 29,046,919 (GRCm39) V146A probably benign Het
Prorp T C 12: 55,351,206 (GRCm39) Y172H probably damaging Het
Prrc2a T C 17: 35,381,286 (GRCm39) N61S unknown Het
Ror1 T A 4: 100,190,827 (GRCm39) D61E probably benign Het
Ryr3 G A 2: 112,542,706 (GRCm39) P3168S probably benign Het
Serinc4 T A 2: 121,284,250 (GRCm39) I289F probably damaging Het
Sez6l A T 5: 112,623,347 (GRCm39) L68H possibly damaging Het
Sez6l2 A G 7: 126,560,915 (GRCm39) E460G probably benign Het
Sh3tc1 C T 5: 35,863,406 (GRCm39) G927D probably damaging Het
Slc22a27 G C 19: 7,903,747 (GRCm39) T130S probably damaging Het
Slc38a8 C A 8: 120,227,820 (GRCm39) A37S possibly damaging Het
Slc40a1 T C 1: 45,958,134 (GRCm39) N100D probably damaging Het
Slc49a3 G A 5: 108,591,646 (GRCm39) probably null Het
Snx30 T C 4: 59,894,567 (GRCm39) F382L possibly damaging Het
Sox1 A G 8: 12,446,913 (GRCm39) N185D possibly damaging Het
Spsb1 C T 4: 149,991,385 (GRCm39) R61H possibly damaging Het
Sptbn2 T C 19: 4,798,110 (GRCm39) V1945A probably benign Het
St18 T A 1: 6,898,194 (GRCm39) N665K probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Syne2 G A 12: 76,141,100 (GRCm39) V1331M probably damaging Het
Tfap2c T C 2: 172,393,639 (GRCm39) S185P probably benign Het
Tnfsf8 T A 4: 63,769,398 (GRCm39) D71V probably damaging Het
Tnn T C 1: 159,937,929 (GRCm39) D1196G probably benign Het
Ttll8 A G 15: 88,817,639 (GRCm39) probably null Het
Tubgcp3 A G 8: 12,691,207 (GRCm39) F444L probably damaging Het
Txndc11 G A 16: 10,905,742 (GRCm39) P596L probably benign Het
Ubr4 C T 4: 139,139,983 (GRCm39) P1189S possibly damaging Het
Usp32 T C 11: 84,913,724 (GRCm39) D869G possibly damaging Het
Vmn1r202 G T 13: 22,686,188 (GRCm39) N76K probably damaging Het
Wfdc6a C T 2: 164,421,761 (GRCm39) M132I probably benign Het
Wnk2 A T 13: 49,300,720 (GRCm39) probably null Het
Xbp1 A G 11: 5,474,683 (GRCm39) probably null Het
Zfp551 A T 7: 12,149,725 (GRCm39) Y561* probably null 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
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
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'- GTACGTTTCTCAGGGAGTTACAAAG -3'
(R):5'- TGGTTTCAGTGTCCCAAAGG -3'

Sequencing Primer
(F):5'- TTAAGAGCGCTGACTGCTC -3'
(R):5'- TGTCCCAAAGGAGACCCG -3'
Posted On 2019-10-17