Incidental Mutation 'R5042:Nav3'
ID 393264
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 042632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 109517120-110292065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109605129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 981 (S981R)
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: S981R

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032719
Gene: ENSMUSG00000020181
AA Change: S981R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161582
SMART Domains Protein: ENSMUSP00000124591
Gene: ENSMUSG00000020181

DomainStartEndE-ValueType
low complexity region 84 95 N/A INTRINSIC
low complexity region 150 173 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
low complexity region 354 372 N/A INTRINSIC
low complexity region 437 450 N/A INTRINSIC
low complexity region 484 506 N/A INTRINSIC
low complexity region 533 543 N/A INTRINSIC
low complexity region 551 562 N/A INTRINSIC
low complexity region 570 589 N/A INTRINSIC
low complexity region 604 618 N/A INTRINSIC
low complexity region 660 674 N/A INTRINSIC
low complexity region 739 751 N/A INTRINSIC
low complexity region 827 840 N/A INTRINSIC
coiled coil region 842 933 N/A INTRINSIC
low complexity region 952 969 N/A INTRINSIC
low complexity region 992 1003 N/A INTRINSIC
low complexity region 1026 1051 N/A INTRINSIC
low complexity region 1052 1065 N/A INTRINSIC
coiled coil region 1071 1112 N/A INTRINSIC
low complexity region 1118 1141 N/A INTRINSIC
AAA 1299 1454 4.94e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163071
SMART Domains Protein: ENSMUSP00000124856
Gene: ENSMUSG00000020181

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
low complexity region 75 89 N/A INTRINSIC
low complexity region 140 152 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V 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
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
R7794:Nav3 UTSW 10 109,524,717 (GRCm39) missense probably benign 0.08
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'- TCACAGATTAAAGCTCTTCTGCAG -3'
(R):5'- CTTTACAGCTGAAAACAGATGCG -3'

Sequencing Primer
(F):5'- CGCCTTTAATCCTAGCATTCAGGAAG -3'
(R):5'- TGCGGAGAAACGTTCGAC -3'
Posted On 2016-06-15