Incidental Mutation 'R4610:Nav1'
ID 377738
Institutional Source Beutler Lab
Gene Symbol Nav1
Ensembl Gene ENSMUSG00000009418
Gene Name neuron navigator 1
Synonyms steerin-1, C230080M11Rik, unc53H1, 9930003A20Rik, POMFIL3
MMRRC Submission 041821-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R4610 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135434580-135607295 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) A to G at 135592448 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000190298]
AlphaFold Q8CH77
Predicted Effect noncoding transcript
Transcript: ENSMUST00000067468
SMART Domains Protein: ENSMUSP00000067952
Gene: ENSMUSG00000054412

DomainStartEndE-ValueType
low complexity region 118 146 N/A INTRINSIC
transmembrane domain 164 181 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (121/124)
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,516,921 (GRCm38) D555E probably damaging Het
Adgre1 C A 17: 57,450,073 (GRCm38) Q777K possibly damaging Het
Agpat4 G A 17: 12,210,377 (GRCm38) probably null Het
Ak7 G A 12: 105,713,575 (GRCm38) V123M probably benign Het
Ankle1 AT A 8: 71,407,207 (GRCm38) probably benign Het
Ankrd44 T G 1: 54,766,748 (GRCm38) probably benign Het
Aprt A T 8: 122,575,415 (GRCm38) probably null Het
Aptx T C 4: 40,702,766 (GRCm38) probably null Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
AY358078 T A 14: 51,826,075 (GRCm38) C393S possibly damaging Het
Bbip1 T C 19: 53,932,175 (GRCm38) M1V probably null Het
Cacng7 T A 7: 3,336,691 (GRCm38) M36K probably benign Het
Camta1 A G 4: 151,084,827 (GRCm38) W156R probably damaging Het
Casd1 G A 6: 4,631,165 (GRCm38) probably null Het
Casz1 T A 4: 148,933,267 (GRCm38) Y338N probably damaging Het
Ccdc66 T C 14: 27,500,420 (GRCm38) N122S probably damaging Het
Celf2 G T 2: 6,586,020 (GRCm38) N279K possibly damaging Het
Cfap96 A T 8: 45,970,468 (GRCm38) I69N probably damaging Het
Cit A G 5: 115,994,087 (GRCm38) T1801A probably benign Het
Cnot2 A G 10: 116,499,418 (GRCm38) I275T probably damaging Het
Ddx4 T C 13: 112,612,060 (GRCm38) K435E probably damaging Het
Dnajc6 T C 4: 101,611,264 (GRCm38) F166L probably damaging Het
Dst T C 1: 34,169,856 (GRCm38) L820P probably damaging Het
Dusp11 T A 6: 85,950,055 (GRCm38) N193Y probably damaging Het
Eif1ad7 T C 12: 88,271,774 (GRCm38) N72S probably benign Het
Eif3m A T 2: 105,013,288 (GRCm38) N116K probably benign Het
Epb41l1 A T 2: 156,509,261 (GRCm38) E418D possibly damaging Het
Esyt2 T G 12: 116,318,890 (GRCm38) N153K probably damaging Het
Exoc6b T G 6: 85,003,159 (GRCm38) probably benign Het
Ezr C T 17: 6,739,722 (GRCm38) E502K possibly damaging Het
Fbxw11 T A 11: 32,711,859 (GRCm38) Y66N possibly damaging Het
Frem2 A G 3: 53,547,807 (GRCm38) L2116S possibly damaging Het
Fry T C 5: 150,386,104 (GRCm38) L671P probably damaging Het
Galnt7 A G 8: 57,545,769 (GRCm38) I262T probably damaging Het
Glp1r T C 17: 30,931,247 (GRCm38) F381S probably benign Het
Gm3867 T C 9: 36,257,271 (GRCm38) noncoding transcript Het
Gm8741 G T 17: 35,336,086 (GRCm38) noncoding transcript Het
Golgb1 A G 16: 36,918,625 (GRCm38) D2442G probably damaging Het
Gp1bb A T 16: 18,621,143 (GRCm38) L67Q probably damaging Het
Gstm7 G A 3: 107,926,919 (GRCm38) T206I possibly damaging Het
H2bc7 A T 13: 23,574,057 (GRCm38) V45E possibly damaging Het
Hs3st5 A T 10: 36,828,806 (GRCm38) D35V probably benign Het
Hspa13 T C 16: 75,761,302 (GRCm38) H125R probably benign Het
Hspa1a T G 17: 34,971,180 (GRCm38) H249P probably damaging Het
Igkv10-95 A T 6: 68,680,578 (GRCm38) Q6L probably damaging Het
Il1rap T A 16: 26,714,776 (GRCm38) L474H probably benign Het
Ipo11 T A 13: 106,879,737 (GRCm38) Y489F probably benign Het
Itga5 A G 15: 103,350,832 (GRCm38) Y723H probably damaging Het
Itih2 T C 2: 10,105,160 (GRCm38) N594S probably damaging Het
Itk T A 11: 46,336,515 (GRCm38) Q427L probably benign Het
Kif26b A G 1: 178,679,355 (GRCm38) Y332C probably damaging Het
Kmt2c G A 5: 25,354,384 (GRCm38) R1086W probably damaging Het
Ktn1 T A 14: 47,726,179 (GRCm38) probably benign Het
Lars2 T A 9: 123,418,693 (GRCm38) I305N probably damaging Het
Lgmn G T 12: 102,400,124 (GRCm38) probably benign Het
Ltbp4 C T 7: 27,306,700 (GRCm38) E1453K probably damaging Het
Lypd8 G A 11: 58,386,849 (GRCm38) M152I probably benign Het
Man2a1 T A 17: 64,712,459 (GRCm38) S773T probably benign Het
Map2k6 T G 11: 110,499,474 (GRCm38) L278R probably damaging Het
Mbtps1 A T 8: 119,535,347 (GRCm38) D354E probably damaging Het
Mcpt9 C T 14: 56,028,592 (GRCm38) V60M probably damaging Het
Mical3 C A 6: 120,934,838 (GRCm38) E1083* probably null Het
Mms19 A G 19: 41,945,496 (GRCm38) V811A possibly damaging Het
Mrc2 G A 11: 105,348,431 (GRCm38) probably null Het
Mslnl G A 17: 25,742,934 (GRCm38) V128M probably damaging Het
Mtcl1 T A 17: 66,377,887 (GRCm38) H520L probably benign Het
Mymk A T 2: 27,062,707 (GRCm38) F130I probably damaging Het
Myo1f C T 17: 33,582,332 (GRCm38) R333C probably damaging Het
Myo9a T A 9: 59,871,882 (GRCm38) H1640Q probably benign Het
Ncbp3 G T 11: 73,079,018 (GRCm38) G564C probably damaging Het
Ncoa4 A T 14: 32,176,725 (GRCm38) I501L probably benign Het
Ngp T A 9: 110,420,815 (GRCm38) N60K possibly damaging Het
Npc1l1 G T 11: 6,228,215 (GRCm38) D398E probably damaging Het
Nphs2 T A 1: 156,326,131 (GRCm38) M264K probably damaging Het
Or4s2b T G 2: 88,678,179 (GRCm38) V101G probably benign Het
Or4s2b G A 2: 88,677,896 (GRCm38) V14I probably benign Het
Or7e165 T A 9: 19,783,146 (GRCm38) Y4* probably null Het
Or8b8 T A 9: 37,898,326 (GRCm38) S307R probably benign Het
Patz1 A G 11: 3,306,241 (GRCm38) Y509C probably damaging Het
Pax8 G A 2: 24,421,583 (GRCm38) P447S probably damaging Het
Pde11a A G 2: 76,158,333 (GRCm38) V488A probably benign Het
Pex11g C T 8: 3,465,899 (GRCm38) V45M probably benign Het
Pik3ip1 T A 11: 3,333,327 (GRCm38) S142R probably damaging Het
Pitpnm2 C G 5: 124,125,371 (GRCm38) A819P probably damaging Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Plin4 T A 17: 56,105,418 (GRCm38) M538L probably benign Het
Ppp3cb T C 14: 20,520,646 (GRCm38) N339S possibly damaging Het
Rev1 T C 1: 38,053,649 (GRCm38) E1202G probably damaging Het
Rngtt T A 4: 33,339,133 (GRCm38) probably benign Het
Serpinb12 T A 1: 106,949,153 (GRCm38) D66E probably benign Het
Sgsm1 A T 5: 113,255,307 (GRCm38) F958Y probably damaging Het
Slc35e2 T C 4: 155,617,649 (GRCm38) F290S probably benign Het
Sorl1 C T 9: 42,031,914 (GRCm38) V889M possibly damaging Het
Sptlc3 G A 2: 139,636,680 (GRCm38) V520I probably benign Het
Stam A T 2: 14,115,858 (GRCm38) H53L probably damaging Het
Stox2 A G 8: 47,192,935 (GRCm38) S497P probably damaging Het
Tarbp1 A G 8: 126,474,330 (GRCm38) Y246H probably damaging Het
Tbx15 A G 3: 99,352,367 (GRCm38) Y518C probably damaging Het
Tdrd5 T A 1: 156,284,374 (GRCm38) T479S probably benign Het
Tescl T C 7: 24,333,258 (GRCm38) E214G probably damaging Het
Tex10 T C 4: 48,452,946 (GRCm38) D671G probably benign Het
Tmem132d A G 5: 127,984,296 (GRCm38) V414A probably benign Het
Tmem41b T A 7: 109,974,734 (GRCm38) probably benign Het
Tnfrsf18 A G 4: 156,021,880 (GRCm38) probably benign Het
Tulp4 T A 17: 6,198,833 (GRCm38) D42E probably damaging Het
Ubtd1 A G 19: 42,033,664 (GRCm38) N125S probably damaging Het
Ubxn4 T A 1: 128,255,449 (GRCm38) F68I probably benign Het
Urb1 A G 16: 90,776,271 (GRCm38) S958P probably benign Het
Vash2 T C 1: 190,960,301 (GRCm38) S226G probably benign Het
Vmn2r120 C T 17: 57,509,120 (GRCm38) G745E probably damaging Het
Vmn2r58 T A 7: 41,837,693 (GRCm38) I593F probably benign Het
Zfp398 T C 6: 47,840,427 (GRCm38) L67P probably damaging Het
Zfp607b T A 7: 27,703,695 (GRCm38) H525Q probably damaging Het
Zfp629 T C 7: 127,612,320 (GRCm38) T106A probably benign Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Zic5 T A 14: 122,464,800 (GRCm38) D173V probably damaging Het
Zranb2 G A 3: 157,541,884 (GRCm38) probably benign Het
Other mutations in Nav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Nav1 APN 1 135,450,630 (GRCm38) missense probably damaging 1.00
IGL01455:Nav1 APN 1 135,469,635 (GRCm38) missense probably benign 0.44
IGL01650:Nav1 APN 1 135,454,760 (GRCm38) missense probably damaging 1.00
IGL01872:Nav1 APN 1 135,454,076 (GRCm38) missense probably damaging 1.00
IGL01967:Nav1 APN 1 135,537,245 (GRCm38) missense probably damaging 1.00
IGL02167:Nav1 APN 1 135,470,961 (GRCm38) missense probably damaging 1.00
IGL02278:Nav1 APN 1 135,463,714 (GRCm38) splice site probably benign
IGL02343:Nav1 APN 1 135,454,752 (GRCm38) nonsense probably null
IGL02378:Nav1 APN 1 135,469,978 (GRCm38) missense probably benign 0.02
IGL02554:Nav1 APN 1 135,584,913 (GRCm38) synonymous silent
IGL03148:Nav1 APN 1 135,470,024 (GRCm38) missense possibly damaging 0.94
IGL03286:Nav1 APN 1 135,454,536 (GRCm38) missense probably benign
IGL03372:Nav1 APN 1 135,450,903 (GRCm38) missense probably damaging 0.99
PIT4802001:Nav1 UTSW 1 135,452,933 (GRCm38) missense unknown
R0388:Nav1 UTSW 1 135,448,917 (GRCm38) splice site probably benign
R0390:Nav1 UTSW 1 135,449,966 (GRCm38) missense possibly damaging 0.80
R0395:Nav1 UTSW 1 135,532,623 (GRCm38) missense probably damaging 0.97
R0395:Nav1 UTSW 1 135,532,621 (GRCm38) nonsense probably null
R0416:Nav1 UTSW 1 135,471,126 (GRCm38) missense possibly damaging 0.73
R0463:Nav1 UTSW 1 135,452,207 (GRCm38) missense possibly damaging 0.76
R0538:Nav1 UTSW 1 135,464,692 (GRCm38) splice site probably benign
R0594:Nav1 UTSW 1 135,467,643 (GRCm38) missense possibly damaging 0.74
R0696:Nav1 UTSW 1 135,532,614 (GRCm38) missense probably damaging 0.99
R0699:Nav1 UTSW 1 135,452,949 (GRCm38) missense probably benign 0.00
R0759:Nav1 UTSW 1 135,455,260 (GRCm38) missense possibly damaging 0.73
R1164:Nav1 UTSW 1 135,472,410 (GRCm38) missense probably benign
R1169:Nav1 UTSW 1 135,455,205 (GRCm38) missense probably damaging 1.00
R1401:Nav1 UTSW 1 135,460,425 (GRCm38) missense probably benign 0.20
R1421:Nav1 UTSW 1 135,585,010 (GRCm38) missense probably damaging 1.00
R1642:Nav1 UTSW 1 135,452,272 (GRCm38) missense probably damaging 1.00
R1705:Nav1 UTSW 1 135,584,599 (GRCm38) missense probably damaging 1.00
R1713:Nav1 UTSW 1 135,595,234 (GRCm38) intron probably benign
R1728:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1729:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1730:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1739:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1740:Nav1 UTSW 1 135,458,389 (GRCm38) critical splice donor site probably null
R1762:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1783:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1784:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1785:Nav1 UTSW 1 135,584,727 (GRCm38) missense possibly damaging 0.82
R1895:Nav1 UTSW 1 135,458,658 (GRCm38) missense probably damaging 1.00
R1896:Nav1 UTSW 1 135,460,737 (GRCm38) missense probably benign 0.00
R1901:Nav1 UTSW 1 135,472,410 (GRCm38) missense probably benign 0.03
R1902:Nav1 UTSW 1 135,472,410 (GRCm38) missense probably benign 0.03
R1925:Nav1 UTSW 1 135,607,229 (GRCm38) utr 5 prime probably benign
R1939:Nav1 UTSW 1 135,465,898 (GRCm38) missense probably damaging 1.00
R1971:Nav1 UTSW 1 135,532,353 (GRCm38) missense probably benign 0.06
R2063:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2066:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2084:Nav1 UTSW 1 135,607,420 (GRCm38) unclassified probably benign
R2090:Nav1 UTSW 1 135,607,165 (GRCm38) utr 5 prime probably benign
R2107:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2110:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2111:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2112:Nav1 UTSW 1 135,449,004 (GRCm38) missense probably damaging 1.00
R2136:Nav1 UTSW 1 135,454,436 (GRCm38) missense probably null 0.18
R2268:Nav1 UTSW 1 135,472,236 (GRCm38) nonsense probably null
R2269:Nav1 UTSW 1 135,472,236 (GRCm38) nonsense probably null
R2847:Nav1 UTSW 1 135,450,644 (GRCm38) splice site probably null
R2869:Nav1 UTSW 1 135,460,757 (GRCm38) synonymous silent
R2871:Nav1 UTSW 1 135,460,757 (GRCm38) synonymous silent
R2872:Nav1 UTSW 1 135,460,757 (GRCm38) synonymous silent
R2904:Nav1 UTSW 1 135,585,238 (GRCm38) missense probably benign
R3690:Nav1 UTSW 1 135,467,644 (GRCm38) missense probably benign 0.11
R3716:Nav1 UTSW 1 135,450,630 (GRCm38) missense probably damaging 1.00
R3717:Nav1 UTSW 1 135,450,630 (GRCm38) missense probably damaging 1.00
R3718:Nav1 UTSW 1 135,450,630 (GRCm38) missense probably damaging 1.00
R3815:Nav1 UTSW 1 135,471,124 (GRCm38) missense possibly damaging 0.95
R4282:Nav1 UTSW 1 135,457,913 (GRCm38) intron probably benign
R4361:Nav1 UTSW 1 135,607,437 (GRCm38) unclassified probably benign
R4730:Nav1 UTSW 1 135,607,311 (GRCm38) unclassified probably benign
R4784:Nav1 UTSW 1 135,458,739 (GRCm38) missense probably damaging 1.00
R4788:Nav1 UTSW 1 135,469,723 (GRCm38) missense probably benign
R4808:Nav1 UTSW 1 135,455,204 (GRCm38) missense probably damaging 1.00
R4996:Nav1 UTSW 1 135,465,971 (GRCm38) missense probably damaging 1.00
R5284:Nav1 UTSW 1 135,449,963 (GRCm38) nonsense probably null
R5514:Nav1 UTSW 1 135,470,561 (GRCm38) missense probably benign 0.04
R5769:Nav1 UTSW 1 135,452,257 (GRCm38) missense probably damaging 1.00
R5834:Nav1 UTSW 1 135,532,406 (GRCm38) missense probably benign 0.07
R5898:Nav1 UTSW 1 135,585,146 (GRCm38) missense probably benign
R6081:Nav1 UTSW 1 135,470,822 (GRCm38) missense probably damaging 1.00
R6344:Nav1 UTSW 1 135,450,796 (GRCm38) missense probably damaging 1.00
R6378:Nav1 UTSW 1 135,454,695 (GRCm38) missense probably damaging 1.00
R7001:Nav1 UTSW 1 135,454,611 (GRCm38) splice site probably null
R7185:Nav1 UTSW 1 135,471,008 (GRCm38) missense possibly damaging 0.85
R7291:Nav1 UTSW 1 135,465,859 (GRCm38) missense probably damaging 1.00
R7361:Nav1 UTSW 1 135,452,853 (GRCm38) missense unknown
R7390:Nav1 UTSW 1 135,584,918 (GRCm38) missense probably benign 0.01
R7464:Nav1 UTSW 1 135,584,909 (GRCm38) missense probably benign 0.03
R7502:Nav1 UTSW 1 135,469,666 (GRCm38) missense probably damaging 1.00
R7601:Nav1 UTSW 1 135,460,438 (GRCm38) missense unknown
R7625:Nav1 UTSW 1 135,467,745 (GRCm38) missense probably damaging 1.00
R7639:Nav1 UTSW 1 135,471,122 (GRCm38) missense probably benign 0.09
R7786:Nav1 UTSW 1 135,469,995 (GRCm38) missense probably damaging 1.00
R7808:Nav1 UTSW 1 135,452,248 (GRCm38) missense unknown
R7815:Nav1 UTSW 1 135,584,639 (GRCm38) missense possibly damaging 0.49
R7825:Nav1 UTSW 1 135,450,044 (GRCm38) missense probably damaging 0.98
R8030:Nav1 UTSW 1 135,537,239 (GRCm38) missense probably damaging 1.00
R8370:Nav1 UTSW 1 135,471,144 (GRCm38) nonsense probably null
R8405:Nav1 UTSW 1 135,454,770 (GRCm38) missense unknown
R8720:Nav1 UTSW 1 135,460,726 (GRCm38) missense unknown
R8868:Nav1 UTSW 1 135,585,205 (GRCm38) missense probably benign 0.05
R8973:Nav1 UTSW 1 135,584,725 (GRCm38) missense probably benign 0.01
R9039:Nav1 UTSW 1 135,443,749 (GRCm38) missense unknown
R9261:Nav1 UTSW 1 135,460,357 (GRCm38) missense unknown
R9523:Nav1 UTSW 1 135,452,191 (GRCm38) missense unknown
Z1088:Nav1 UTSW 1 135,470,724 (GRCm38) missense probably benign 0.01
Z1176:Nav1 UTSW 1 135,472,420 (GRCm38) missense probably damaging 1.00
Z1176:Nav1 UTSW 1 135,452,886 (GRCm38) missense unknown
Z1177:Nav1 UTSW 1 135,469,731 (GRCm38) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TTATGACAAGTGTTCTGGACCC -3'
(R):5'- AGCATTAGGGGCCATGGTTG -3'

Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CCATGGTTGCCAGGAGATG -3'
Posted On 2016-04-01