Incidental Mutation 'R7794:Nav3'
ID 600132
Institutional Source Beutler Lab
Gene Symbol Nav3
Ensembl Gene ENSMUSG00000020181
Gene Name neuron navigator 3
Synonyms Pomfil1p, 9630020C08Rik, POMFIL1, steerin 3, 4732483H20Rik, unc53H3
MMRRC Submission 045850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7794 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 109517120-110292065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109524717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 2304 (A2304V)
Ref Sequence ENSEMBL: ENSMUSP00000032719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032719]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032719
AA Change: A2304V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032719
Gene: ENSMUSG00000020181
AA Change: A2304V

DomainStartEndE-ValueType
CH 79 182 4.41e-12 SMART
low complexity region 184 194 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 353 363 N/A INTRINSIC
low complexity region 427 439 N/A INTRINSIC
low complexity region 522 536 N/A INTRINSIC
low complexity region 713 724 N/A INTRINSIC
low complexity region 807 818 N/A INTRINSIC
low complexity region 873 896 N/A INTRINSIC
low complexity region 904 916 N/A INTRINSIC
low complexity region 1077 1095 N/A INTRINSIC
low complexity region 1160 1173 N/A INTRINSIC
low complexity region 1207 1229 N/A INTRINSIC
low complexity region 1256 1266 N/A INTRINSIC
low complexity region 1274 1285 N/A INTRINSIC
low complexity region 1293 1312 N/A INTRINSIC
low complexity region 1327 1341 N/A INTRINSIC
low complexity region 1383 1397 N/A INTRINSIC
low complexity region 1462 1474 N/A INTRINSIC
low complexity region 1550 1563 N/A INTRINSIC
coiled coil region 1565 1656 N/A INTRINSIC
low complexity region 1675 1692 N/A INTRINSIC
low complexity region 1722 1733 N/A INTRINSIC
low complexity region 1756 1781 N/A INTRINSIC
low complexity region 1782 1795 N/A INTRINSIC
coiled coil region 1801 1842 N/A INTRINSIC
low complexity region 1848 1871 N/A INTRINSIC
AAA 2029 2184 4.94e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
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. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,117,022 (GRCm39) M542K possibly damaging Het
Abcc3 T A 11: 94,249,697 (GRCm39) I1083F probably benign Het
Acsm5 A G 7: 119,137,352 (GRCm39) probably benign Het
Acyp1 G T 12: 85,335,053 (GRCm39) A22E probably benign Het
Afdn C A 17: 14,102,695 (GRCm39) A1090E probably damaging Het
Ahdc1 T G 4: 132,791,289 (GRCm39) D843E possibly damaging Het
Bahcc1 G T 11: 120,163,507 (GRCm39) E602* probably null Het
Bora A G 14: 99,310,080 (GRCm39) T470A possibly damaging Het
Bzw1 T A 1: 58,439,959 (GRCm39) S166T probably benign Het
Car13 A G 3: 14,719,948 (GRCm39) H120R probably damaging Het
Cstf3 G A 2: 104,420,926 (GRCm39) ⇒1 probably benign Het
Dip2a T C 10: 76,112,459 (GRCm39) N1080D probably damaging Het
Dis3 A G 14: 99,336,233 (GRCm39) L91P probably benign Het
E2f6 A G 12: 16,870,370 (GRCm39) D174G possibly damaging Het
Emsy A T 7: 98,249,931 (GRCm39) S785R probably benign Het
Fbxl17 A G 17: 63,663,806 (GRCm39) I561T probably damaging Het
Gabra6 A T 11: 42,211,868 (GRCm39) probably null Het
Gm47996 C G 1: 151,086,545 (GRCm39) P209A possibly damaging Het
Hcls1 A G 16: 36,782,426 (GRCm39) E365G probably damaging Het
Hoxa6 T A 6: 52,183,548 (GRCm39) T166S possibly damaging Het
Hydin A G 8: 111,235,715 (GRCm39) Y1900C probably damaging Het
I0C0044D17Rik T C 4: 98,708,582 (GRCm39) probably benign Het
Ifitm7 T C 16: 13,801,610 (GRCm39) T50A probably benign Het
Igkv10-95 A G 6: 68,657,811 (GRCm39) Q109R possibly damaging Het
Il1rap A T 16: 26,541,658 (GRCm39) H633L probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Kmt2e G A 5: 23,669,714 (GRCm39) G67D probably damaging Het
Kpna6 T C 4: 129,541,844 (GRCm39) T518A probably benign Het
Marchf11 A G 15: 26,409,284 (GRCm39) I328V probably benign Het
Mbtps1 A G 8: 120,265,623 (GRCm39) I308T probably damaging Het
Mug1 A T 6: 121,833,247 (GRCm39) D284V possibly damaging Het
Myo16 A G 8: 10,619,913 (GRCm39) K1488R unknown Het
Myom2 G A 8: 15,133,259 (GRCm39) G384R probably damaging Het
Naa16 A G 14: 79,614,934 (GRCm39) Y189H probably damaging Het
Or12e10 T A 2: 87,640,818 (GRCm39) V218E probably damaging Het
Or14c46 T A 7: 85,918,341 (GRCm39) I219L probably damaging Het
Or14j5 A T 17: 38,161,678 (GRCm39) Q65L probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Pan2 T C 10: 128,152,396 (GRCm39) probably null Het
Pcdhb20 A G 18: 37,637,485 (GRCm39) R4G probably benign Het
Poc1b A G 10: 98,965,460 (GRCm39) S130G possibly damaging Het
Psme2b A G 11: 48,836,683 (GRCm39) V88A probably benign Het
Ptpn13 C T 5: 103,640,090 (GRCm39) T183M probably benign Het
Ptpn4 T C 1: 119,653,767 (GRCm39) E275G probably damaging Het
Rab21 A T 10: 115,134,762 (GRCm39) L119* probably null Het
Rep15 T A 6: 146,934,638 (GRCm39) I159N probably damaging Het
Rps6kc1 T C 1: 190,515,825 (GRCm39) E967G probably benign Het
Rptn G A 3: 93,303,036 (GRCm39) R123K probably benign Het
Scn11a A T 9: 119,594,580 (GRCm39) V1271D probably damaging Het
Scn5a A T 9: 119,358,153 (GRCm39) I696N probably damaging Het
Slc25a12 T C 2: 71,141,852 (GRCm39) E267G probably damaging Het
Slc5a4b A T 10: 75,898,133 (GRCm39) M527K probably benign Het
Spata31e4 C G 13: 50,856,344 (GRCm39) P661A probably damaging Het
Speg T A 1: 75,365,514 (GRCm39) S632T probably benign Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Synrg G T 11: 83,910,400 (GRCm39) M933I probably benign Het
Tmem178b A T 6: 40,222,551 (GRCm39) I89F probably damaging Het
Tyr C T 7: 87,133,028 (GRCm39) probably null Het
Usp30 T A 5: 114,251,033 (GRCm39) C237* probably null Het
Xpo6 G T 7: 125,760,035 (GRCm39) T188K probably damaging Het
Zfp382 G A 7: 29,831,035 (GRCm39) S108N possibly damaging Het
Zfp820 A C 17: 22,039,109 (GRCm39) V73G probably damaging Het
Other mutations in Nav3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Nav3 APN 10 109,677,594 (GRCm39) missense probably damaging 0.99
IGL00425:Nav3 APN 10 109,539,368 (GRCm39) missense probably benign 0.13
IGL00465:Nav3 APN 10 109,688,607 (GRCm39) missense probably damaging 0.99
IGL00531:Nav3 APN 10 109,539,171 (GRCm39) missense probably null 0.99
IGL00575:Nav3 APN 10 109,600,626 (GRCm39) missense probably damaging 0.98
IGL00770:Nav3 APN 10 109,652,124 (GRCm39) missense probably damaging 1.00
IGL00774:Nav3 APN 10 109,652,124 (GRCm39) missense probably damaging 1.00
IGL00858:Nav3 APN 10 109,578,493 (GRCm39) missense probably damaging 0.98
IGL00935:Nav3 APN 10 109,541,527 (GRCm39) missense probably benign
IGL01638:Nav3 APN 10 109,688,724 (GRCm39) missense probably damaging 1.00
IGL01662:Nav3 APN 10 109,605,119 (GRCm39) missense possibly damaging 0.56
IGL01670:Nav3 APN 10 109,550,102 (GRCm39) missense possibly damaging 0.92
IGL01885:Nav3 APN 10 109,578,521 (GRCm39) nonsense probably null
IGL01979:Nav3 APN 10 109,540,790 (GRCm39) missense probably benign 0.01
IGL02121:Nav3 APN 10 109,594,897 (GRCm39) missense probably damaging 0.99
IGL02210:Nav3 APN 10 109,602,851 (GRCm39) missense probably benign
IGL02523:Nav3 APN 10 109,605,157 (GRCm39) missense probably damaging 1.00
IGL02573:Nav3 APN 10 109,702,835 (GRCm39) missense probably benign 0.23
IGL02633:Nav3 APN 10 109,527,997 (GRCm39) missense probably benign 0.09
IGL02810:Nav3 APN 10 109,652,135 (GRCm39) missense probably damaging 1.00
IGL02964:Nav3 APN 10 109,572,814 (GRCm39) missense probably damaging 0.99
IGL03015:Nav3 APN 10 109,554,158 (GRCm39) missense probably damaging 0.98
IGL03288:Nav3 APN 10 109,594,878 (GRCm39) missense probably damaging 1.00
IGL03310:Nav3 APN 10 109,660,433 (GRCm39) critical splice donor site probably null
PIT4377001:Nav3 UTSW 10 109,552,466 (GRCm39) missense probably damaging 0.99
R0010:Nav3 UTSW 10 109,659,087 (GRCm39) splice site probably benign
R0043:Nav3 UTSW 10 109,603,379 (GRCm39) missense possibly damaging 0.95
R0053:Nav3 UTSW 10 109,602,778 (GRCm39) splice site probably benign
R0053:Nav3 UTSW 10 109,602,778 (GRCm39) splice site probably benign
R0077:Nav3 UTSW 10 109,552,503 (GRCm39) missense possibly damaging 0.87
R0219:Nav3 UTSW 10 109,702,791 (GRCm39) critical splice donor site probably null
R0310:Nav3 UTSW 10 109,602,989 (GRCm39) missense possibly damaging 0.82
R0380:Nav3 UTSW 10 109,594,740 (GRCm39) splice site probably benign
R0403:Nav3 UTSW 10 109,602,964 (GRCm39) missense probably damaging 0.98
R0480:Nav3 UTSW 10 109,689,161 (GRCm39) missense probably damaging 1.00
R0626:Nav3 UTSW 10 109,659,325 (GRCm39) missense probably damaging 1.00
R0637:Nav3 UTSW 10 109,606,058 (GRCm39) missense probably benign 0.25
R0847:Nav3 UTSW 10 109,739,718 (GRCm39) missense possibly damaging 0.94
R0988:Nav3 UTSW 10 109,552,389 (GRCm39) missense probably damaging 1.00
R1272:Nav3 UTSW 10 109,572,860 (GRCm39) missense probably damaging 0.98
R1295:Nav3 UTSW 10 109,527,963 (GRCm39) missense probably damaging 1.00
R1405:Nav3 UTSW 10 109,606,194 (GRCm39) splice site probably benign
R1406:Nav3 UTSW 10 109,719,495 (GRCm39) missense possibly damaging 0.64
R1406:Nav3 UTSW 10 109,719,495 (GRCm39) missense possibly damaging 0.64
R1420:Nav3 UTSW 10 109,659,115 (GRCm39) missense probably benign 0.02
R1449:Nav3 UTSW 10 109,689,372 (GRCm39) missense probably benign 0.13
R1458:Nav3 UTSW 10 109,555,905 (GRCm39) missense probably damaging 1.00
R1469:Nav3 UTSW 10 109,596,369 (GRCm39) missense probably damaging 1.00
R1469:Nav3 UTSW 10 109,596,369 (GRCm39) missense probably damaging 1.00
R1472:Nav3 UTSW 10 109,563,802 (GRCm39) missense probably damaging 0.99
R1537:Nav3 UTSW 10 109,702,846 (GRCm39) missense probably damaging 1.00
R1539:Nav3 UTSW 10 109,603,031 (GRCm39) missense probably damaging 0.99
R1581:Nav3 UTSW 10 109,659,289 (GRCm39) missense probably damaging 1.00
R1586:Nav3 UTSW 10 109,689,115 (GRCm39) missense probably damaging 1.00
R1654:Nav3 UTSW 10 109,688,984 (GRCm39) missense possibly damaging 0.85
R1725:Nav3 UTSW 10 109,659,451 (GRCm39) missense probably damaging 1.00
R1742:Nav3 UTSW 10 109,605,074 (GRCm39) missense probably benign
R1793:Nav3 UTSW 10 109,539,233 (GRCm39) missense probably benign 0.00
R1830:Nav3 UTSW 10 109,659,184 (GRCm39) missense probably damaging 1.00
R1834:Nav3 UTSW 10 109,555,883 (GRCm39) missense probably damaging 0.99
R1881:Nav3 UTSW 10 109,688,420 (GRCm39) missense probably damaging 0.96
R1922:Nav3 UTSW 10 109,541,467 (GRCm39) missense probably benign 0.43
R1944:Nav3 UTSW 10 109,552,391 (GRCm39) missense probably damaging 0.99
R1981:Nav3 UTSW 10 109,554,951 (GRCm39) splice site probably benign
R1985:Nav3 UTSW 10 109,606,045 (GRCm39) splice site probably benign
R1996:Nav3 UTSW 10 109,689,262 (GRCm39) missense probably damaging 1.00
R2051:Nav3 UTSW 10 109,660,536 (GRCm39) missense probably damaging 0.99
R2062:Nav3 UTSW 10 109,555,882 (GRCm39) missense probably damaging 1.00
R2139:Nav3 UTSW 10 109,688,996 (GRCm39) missense probably benign 0.22
R2248:Nav3 UTSW 10 109,532,088 (GRCm39) missense probably damaging 1.00
R2420:Nav3 UTSW 10 109,699,674 (GRCm39) missense probably damaging 0.98
R2444:Nav3 UTSW 10 109,600,776 (GRCm39) missense probably benign 0.09
R3026:Nav3 UTSW 10 109,660,465 (GRCm39) missense probably damaging 0.99
R3052:Nav3 UTSW 10 109,739,613 (GRCm39) missense probably damaging 0.99
R3441:Nav3 UTSW 10 109,540,789 (GRCm39) missense probably benign 0.01
R3845:Nav3 UTSW 10 109,689,237 (GRCm39) missense possibly damaging 0.82
R3929:Nav3 UTSW 10 109,520,064 (GRCm39) missense probably damaging 1.00
R3932:Nav3 UTSW 10 109,529,896 (GRCm39) missense probably damaging 0.99
R4056:Nav3 UTSW 10 109,716,394 (GRCm39) critical splice donor site probably null
R4057:Nav3 UTSW 10 109,716,394 (GRCm39) critical splice donor site probably null
R4120:Nav3 UTSW 10 109,739,605 (GRCm39) critical splice donor site probably null
R4244:Nav3 UTSW 10 109,605,157 (GRCm39) missense probably damaging 1.00
R4361:Nav3 UTSW 10 109,688,847 (GRCm39) missense probably damaging 1.00
R4512:Nav3 UTSW 10 109,529,943 (GRCm39) missense possibly damaging 0.89
R4514:Nav3 UTSW 10 109,529,943 (GRCm39) missense possibly damaging 0.89
R4700:Nav3 UTSW 10 109,600,796 (GRCm39) missense probably benign 0.10
R4815:Nav3 UTSW 10 109,659,413 (GRCm39) missense probably benign
R4981:Nav3 UTSW 10 109,716,553 (GRCm39) missense probably benign
R5042:Nav3 UTSW 10 109,605,129 (GRCm39) missense probably benign 0.27
R5251:Nav3 UTSW 10 109,689,114 (GRCm39) missense probably damaging 0.99
R5252:Nav3 UTSW 10 109,550,152 (GRCm39) small deletion probably benign
R5273:Nav3 UTSW 10 109,528,899 (GRCm39) critical splice donor site probably null
R5288:Nav3 UTSW 10 109,688,966 (GRCm39) missense probably benign 0.10
R5407:Nav3 UTSW 10 109,702,796 (GRCm39) missense probably benign 0.28
R5533:Nav3 UTSW 10 109,719,539 (GRCm39) missense possibly damaging 0.61
R5561:Nav3 UTSW 10 109,552,413 (GRCm39) missense probably damaging 1.00
R5577:Nav3 UTSW 10 109,605,264 (GRCm39) missense probably damaging 1.00
R5656:Nav3 UTSW 10 109,600,494 (GRCm39) missense probably damaging 0.96
R5872:Nav3 UTSW 10 109,600,648 (GRCm39) missense probably damaging 1.00
R6023:Nav3 UTSW 10 109,659,376 (GRCm39) missense possibly damaging 0.95
R6061:Nav3 UTSW 10 109,702,845 (GRCm39) nonsense probably null
R6189:Nav3 UTSW 10 109,555,880 (GRCm39) missense probably damaging 0.98
R6214:Nav3 UTSW 10 109,688,426 (GRCm39) missense probably damaging 1.00
R6215:Nav3 UTSW 10 109,688,426 (GRCm39) missense probably damaging 1.00
R6264:Nav3 UTSW 10 109,524,694 (GRCm39) missense probably damaging 0.97
R6500:Nav3 UTSW 10 109,600,617 (GRCm39) missense probably damaging 1.00
R6524:Nav3 UTSW 10 109,555,891 (GRCm39) missense probably damaging 0.99
R6868:Nav3 UTSW 10 109,529,027 (GRCm39) missense possibly damaging 0.49
R7079:Nav3 UTSW 10 109,603,153 (GRCm39) missense probably benign 0.16
R7099:Nav3 UTSW 10 109,539,195 (GRCm39) missense probably benign 0.11
R7139:Nav3 UTSW 10 109,689,338 (GRCm39) missense probably benign 0.44
R7238:Nav3 UTSW 10 109,689,185 (GRCm39) missense possibly damaging 0.75
R7338:Nav3 UTSW 10 109,605,073 (GRCm39) missense probably benign 0.04
R7343:Nav3 UTSW 10 109,739,619 (GRCm39) missense probably damaging 0.98
R7383:Nav3 UTSW 10 109,552,532 (GRCm39) missense probably damaging 0.98
R7391:Nav3 UTSW 10 109,539,317 (GRCm39) missense probably benign 0.07
R7399:Nav3 UTSW 10 109,688,795 (GRCm39) missense possibly damaging 0.74
R7457:Nav3 UTSW 10 109,532,189 (GRCm39) nonsense probably null
R7462:Nav3 UTSW 10 109,659,439 (GRCm39) missense probably damaging 1.00
R7542:Nav3 UTSW 10 109,659,394 (GRCm39) missense possibly damaging 0.89
R7659:Nav3 UTSW 10 109,602,851 (GRCm39) missense probably benign 0.09
R7749:Nav3 UTSW 10 109,539,213 (GRCm39) missense probably damaging 0.99
R7876:Nav3 UTSW 10 109,689,359 (GRCm39) missense probably benign 0.26
R8048:Nav3 UTSW 10 109,600,779 (GRCm39) missense probably benign 0.13
R8104:Nav3 UTSW 10 109,594,828 (GRCm39) missense probably damaging 0.99
R8125:Nav3 UTSW 10 109,688,520 (GRCm39) missense probably damaging 0.99
R8275:Nav3 UTSW 10 109,527,984 (GRCm39) missense noncoding transcript
R8325:Nav3 UTSW 10 109,541,464 (GRCm39) missense probably benign 0.24
R8336:Nav3 UTSW 10 109,603,430 (GRCm39) missense probably damaging 0.99
R8523:Nav3 UTSW 10 109,659,138 (GRCm39) missense probably damaging 1.00
R8529:Nav3 UTSW 10 109,689,192 (GRCm39) missense probably benign 0.09
R8745:Nav3 UTSW 10 109,659,311 (GRCm39) missense probably benign 0.08
R8752:Nav3 UTSW 10 109,596,165 (GRCm39) intron probably benign
R8794:Nav3 UTSW 10 109,605,032 (GRCm39) nonsense probably null
R8816:Nav3 UTSW 10 109,699,721 (GRCm39) missense possibly damaging 0.69
R9029:Nav3 UTSW 10 109,699,613 (GRCm39) missense possibly damaging 0.68
R9117:Nav3 UTSW 10 109,520,100 (GRCm39) missense probably benign 0.41
R9126:Nav3 UTSW 10 109,541,524 (GRCm39) missense probably benign
R9258:Nav3 UTSW 10 109,550,243 (GRCm39) missense probably damaging 0.99
R9347:Nav3 UTSW 10 109,738,955 (GRCm39) missense probably damaging 0.98
R9353:Nav3 UTSW 10 109,554,065 (GRCm39) missense probably damaging 0.99
R9366:Nav3 UTSW 10 109,659,364 (GRCm39) missense probably damaging 0.99
R9384:Nav3 UTSW 10 109,554,158 (GRCm39) missense probably damaging 0.98
R9428:Nav3 UTSW 10 109,605,176 (GRCm39) missense probably benign
R9454:Nav3 UTSW 10 109,835,864 (GRCm39) missense probably benign 0.01
R9516:Nav3 UTSW 10 109,520,015 (GRCm39) missense probably damaging 1.00
R9521:Nav3 UTSW 10 109,835,845 (GRCm39) missense possibly damaging 0.95
R9622:Nav3 UTSW 10 109,603,103 (GRCm39) missense probably benign
R9689:Nav3 UTSW 10 109,605,034 (GRCm39) missense probably damaging 1.00
R9796:Nav3 UTSW 10 109,527,969 (GRCm39) missense probably damaging 0.99
X0012:Nav3 UTSW 10 109,527,958 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCCCTATAGTAGCTGGCCTTTG -3'
(R):5'- TGGATGTGAGAATAGCTACCTG -3'

Sequencing Primer
(F):5'- AGTAGCTGGCCTTTGATATATTAGC -3'
(R):5'- GATGTGAGAATAGCTACCTGATTAGC -3'
Posted On 2019-11-26