Incidental Mutation 'R0265:D430041D05Rik'
ID 34832
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R0265 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 103998295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 1836 (P1836R)
Ref Sequence ENSEMBL: ENSMUSP00000155485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]
AlphaFold A0A2R8VKG2
Predicted Effect probably damaging
Transcript: ENSMUST00000089726
AA Change: P1151R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: P1151R

DomainStartEndE-ValueType
low complexity region 55 70 N/A INTRINSIC
low complexity region 206 215 N/A INTRINSIC
low complexity region 218 230 N/A INTRINSIC
low complexity region 234 253 N/A INTRINSIC
Pfam:DUF3827 498 1134 2.4e-282 PFAM
low complexity region 1196 1217 N/A INTRINSIC
low complexity region 1331 1351 N/A INTRINSIC
low complexity region 1360 1372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136156
AA Change: P1152R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000141159
AA Change: P1037R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: P1037R

DomainStartEndE-ValueType
low complexity region 55 70 N/A INTRINSIC
low complexity region 91 100 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
low complexity region 119 138 N/A INTRINSIC
Pfam:DUF3827 383 1020 8.2e-280 PFAM
low complexity region 1082 1103 N/A INTRINSIC
low complexity region 1217 1237 N/A INTRINSIC
low complexity region 1246 1258 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000230671
AA Change: P1836R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5321 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably damaging Het
Other mutations in D430041D05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:D430041D05Rik APN 2 104,031,648 (GRCm39) missense probably damaging 1.00
IGL01114:D430041D05Rik APN 2 104,088,511 (GRCm39) nonsense probably null
IGL01669:D430041D05Rik APN 2 104,085,306 (GRCm39) missense probably damaging 1.00
IGL02015:D430041D05Rik APN 2 104,060,749 (GRCm39) missense probably damaging 1.00
IGL02037:D430041D05Rik APN 2 104,038,559 (GRCm39) splice site probably benign
IGL02268:D430041D05Rik APN 2 104,071,500 (GRCm39) missense possibly damaging 0.80
IGL02294:D430041D05Rik APN 2 104,085,351 (GRCm39) missense probably benign 0.42
IGL02457:D430041D05Rik APN 2 104,079,690 (GRCm39) missense probably damaging 0.99
IGL02601:D430041D05Rik APN 2 104,060,631 (GRCm39) missense probably damaging 0.99
IGL02647:D430041D05Rik APN 2 104,078,611 (GRCm39) missense probably damaging 1.00
IGL02679:D430041D05Rik APN 2 104,060,650 (GRCm39) missense possibly damaging 0.80
IGL02926:D430041D05Rik APN 2 104,044,604 (GRCm39) missense probably damaging 1.00
IGL03171:D430041D05Rik APN 2 104,071,508 (GRCm39) missense possibly damaging 0.95
IGL03178:D430041D05Rik APN 2 104,051,556 (GRCm39) missense probably damaging 1.00
IGL03371:D430041D05Rik APN 2 104,078,719 (GRCm39) missense probably damaging 1.00
R0027:D430041D05Rik UTSW 2 104,085,389 (GRCm39) missense probably benign
R0064:D430041D05Rik UTSW 2 104,079,502 (GRCm39) missense probably damaging 1.00
R0135:D430041D05Rik UTSW 2 104,085,379 (GRCm39) missense possibly damaging 0.60
R0227:D430041D05Rik UTSW 2 104,035,545 (GRCm39) missense possibly damaging 0.85
R0268:D430041D05Rik UTSW 2 103,998,295 (GRCm39) missense probably damaging 1.00
R0282:D430041D05Rik UTSW 2 104,031,589 (GRCm39) missense probably damaging 1.00
R0366:D430041D05Rik UTSW 2 104,085,685 (GRCm39) missense probably damaging 0.99
R0402:D430041D05Rik UTSW 2 103,998,509 (GRCm39) missense probably damaging 0.99
R0436:D430041D05Rik UTSW 2 103,998,295 (GRCm39) missense probably damaging 1.00
R0441:D430041D05Rik UTSW 2 103,998,292 (GRCm39) missense probably damaging 1.00
R0540:D430041D05Rik UTSW 2 104,063,790 (GRCm39) missense probably damaging 1.00
R0607:D430041D05Rik UTSW 2 104,063,790 (GRCm39) missense probably damaging 1.00
R0613:D430041D05Rik UTSW 2 103,998,295 (GRCm39) missense probably damaging 1.00
R0626:D430041D05Rik UTSW 2 103,998,295 (GRCm39) missense probably damaging 1.00
R0747:D430041D05Rik UTSW 2 104,060,651 (GRCm39) missense probably damaging 1.00
R0864:D430041D05Rik UTSW 2 104,060,773 (GRCm39) missense possibly damaging 0.78
R0980:D430041D05Rik UTSW 2 104,079,690 (GRCm39) missense probably damaging 0.99
R1014:D430041D05Rik UTSW 2 104,088,674 (GRCm39) missense possibly damaging 0.94
R1254:D430041D05Rik UTSW 2 104,031,648 (GRCm39) missense probably damaging 1.00
R1364:D430041D05Rik UTSW 2 103,985,363 (GRCm39) missense possibly damaging 0.93
R1456:D430041D05Rik UTSW 2 104,038,428 (GRCm39) missense probably damaging 1.00
R1574:D430041D05Rik UTSW 2 104,051,553 (GRCm39) small deletion probably benign
R1604:D430041D05Rik UTSW 2 104,035,487 (GRCm39) missense probably damaging 1.00
R1605:D430041D05Rik UTSW 2 104,085,915 (GRCm39) missense possibly damaging 0.46
R1623:D430041D05Rik UTSW 2 103,983,308 (GRCm39) missense probably damaging 1.00
R1634:D430041D05Rik UTSW 2 104,051,556 (GRCm39) missense probably damaging 1.00
R1834:D430041D05Rik UTSW 2 103,998,446 (GRCm39) missense probably damaging 1.00
R1885:D430041D05Rik UTSW 2 104,060,800 (GRCm39) missense probably benign 0.39
R2080:D430041D05Rik UTSW 2 103,987,161 (GRCm39) missense probably damaging 1.00
R2101:D430041D05Rik UTSW 2 103,979,175 (GRCm39) missense probably damaging 1.00
R2240:D430041D05Rik UTSW 2 103,987,161 (GRCm39) missense probably damaging 1.00
R2923:D430041D05Rik UTSW 2 104,085,660 (GRCm39) missense possibly damaging 0.94
R3751:D430041D05Rik UTSW 2 104,085,403 (GRCm39) missense possibly damaging 0.94
R3862:D430041D05Rik UTSW 2 104,044,522 (GRCm39) missense possibly damaging 0.54
R3863:D430041D05Rik UTSW 2 104,044,522 (GRCm39) missense possibly damaging 0.54
R3864:D430041D05Rik UTSW 2 104,044,522 (GRCm39) missense possibly damaging 0.54
R3949:D430041D05Rik UTSW 2 104,087,713 (GRCm39) missense probably benign 0.02
R4493:D430041D05Rik UTSW 2 104,086,684 (GRCm39) missense probably benign 0.02
R4526:D430041D05Rik UTSW 2 104,022,778 (GRCm39) critical splice donor site probably null
R4592:D430041D05Rik UTSW 2 104,063,824 (GRCm39) missense possibly damaging 0.89
R4598:D430041D05Rik UTSW 2 104,038,528 (GRCm39) missense probably damaging 0.99
R4599:D430041D05Rik UTSW 2 104,038,528 (GRCm39) missense probably damaging 0.99
R4647:D430041D05Rik UTSW 2 104,088,788 (GRCm39) missense probably damaging 0.99
R4765:D430041D05Rik UTSW 2 104,044,441 (GRCm39) missense probably damaging 1.00
R4808:D430041D05Rik UTSW 2 104,031,455 (GRCm39) critical splice donor site probably null
R4868:D430041D05Rik UTSW 2 104,085,754 (GRCm39) missense possibly damaging 0.73
R4982:D430041D05Rik UTSW 2 104,085,732 (GRCm39) missense possibly damaging 0.46
R5144:D430041D05Rik UTSW 2 104,088,847 (GRCm39) missense probably damaging 0.99
R5255:D430041D05Rik UTSW 2 104,086,945 (GRCm39) missense probably benign 0.26
R5356:D430041D05Rik UTSW 2 104,085,754 (GRCm39) missense probably damaging 0.99
R5368:D430041D05Rik UTSW 2 104,078,629 (GRCm39) missense probably damaging 0.99
R5963:D430041D05Rik UTSW 2 104,078,630 (GRCm39) missense possibly damaging 0.66
R5993:D430041D05Rik UTSW 2 103,998,412 (GRCm39) missense probably damaging 1.00
R6122:D430041D05Rik UTSW 2 104,086,637 (GRCm39) missense probably benign 0.01
R6410:D430041D05Rik UTSW 2 103,998,548 (GRCm39) splice site probably null
R6804:D430041D05Rik UTSW 2 103,979,371 (GRCm39) missense possibly damaging 0.85
R6850:D430041D05Rik UTSW 2 104,031,604 (GRCm39) missense probably damaging 1.00
R6853:D430041D05Rik UTSW 2 104,071,500 (GRCm39) missense probably damaging 1.00
R7034:D430041D05Rik UTSW 2 104,022,883 (GRCm39) missense probably damaging 0.99
R7146:D430041D05Rik UTSW 2 104,088,698 (GRCm39) missense probably benign 0.06
R7250:D430041D05Rik UTSW 2 104,086,961 (GRCm39) missense possibly damaging 0.92
R7251:D430041D05Rik UTSW 2 104,051,511 (GRCm39) missense probably damaging 1.00
R7313:D430041D05Rik UTSW 2 104,085,910 (GRCm39) missense probably benign
R7359:D430041D05Rik UTSW 2 104,044,482 (GRCm39) missense probably damaging 1.00
R7361:D430041D05Rik UTSW 2 104,085,363 (GRCm39) missense possibly damaging 0.46
R7436:D430041D05Rik UTSW 2 104,087,447 (GRCm39) missense probably benign 0.02
R7472:D430041D05Rik UTSW 2 104,240,484 (GRCm39) missense unknown
R7492:D430041D05Rik UTSW 2 104,031,650 (GRCm39) missense probably damaging 1.00
R7631:D430041D05Rik UTSW 2 103,979,363 (GRCm39) nonsense probably null
R7672:D430041D05Rik UTSW 2 104,071,581 (GRCm39) missense probably benign 0.01
R7721:D430041D05Rik UTSW 2 104,088,874 (GRCm39) missense probably benign 0.00
R7754:D430041D05Rik UTSW 2 104,087,504 (GRCm39) missense probably benign 0.01
R7882:D430041D05Rik UTSW 2 104,087,974 (GRCm39) nonsense probably null
R7896:D430041D05Rik UTSW 2 104,088,385 (GRCm39) missense probably benign 0.05
R7986:D430041D05Rik UTSW 2 104,087,096 (GRCm39) missense probably damaging 1.00
R8005:D430041D05Rik UTSW 2 104,088,599 (GRCm39) missense possibly damaging 0.72
R8016:D430041D05Rik UTSW 2 104,022,864 (GRCm39) missense probably damaging 1.00
R8054:D430041D05Rik UTSW 2 103,985,390 (GRCm39) missense possibly damaging 0.93
R8058:D430041D05Rik UTSW 2 103,979,128 (GRCm39) makesense probably null
R8100:D430041D05Rik UTSW 2 104,087,287 (GRCm39) missense probably benign 0.00
R8461:D430041D05Rik UTSW 2 103,998,280 (GRCm39) missense possibly damaging 0.46
R8695:D430041D05Rik UTSW 2 104,085,299 (GRCm39) critical splice donor site probably null
R8885:D430041D05Rik UTSW 2 104,071,538 (GRCm39) missense probably damaging 1.00
R9007:D430041D05Rik UTSW 2 104,087,930 (GRCm39) missense probably benign 0.08
R9009:D430041D05Rik UTSW 2 104,240,521 (GRCm39) start gained probably benign
R9335:D430041D05Rik UTSW 2 104,078,674 (GRCm39) missense probably damaging 1.00
R9348:D430041D05Rik UTSW 2 104,088,337 (GRCm39) missense probably benign 0.05
R9384:D430041D05Rik UTSW 2 104,087,920 (GRCm39) missense probably benign
R9483:D430041D05Rik UTSW 2 104,087,563 (GRCm39) missense probably benign 0.44
R9489:D430041D05Rik UTSW 2 104,087,189 (GRCm39) missense probably benign 0.20
R9605:D430041D05Rik UTSW 2 104,087,189 (GRCm39) missense probably benign 0.20
R9613:D430041D05Rik UTSW 2 104,060,737 (GRCm39) missense probably benign 0.09
R9698:D430041D05Rik UTSW 2 103,985,396 (GRCm39) missense probably damaging 1.00
X0024:D430041D05Rik UTSW 2 104,022,911 (GRCm39) critical splice acceptor site probably null
Z1176:D430041D05Rik UTSW 2 104,087,201 (GRCm39) missense probably benign 0.00
Z1176:D430041D05Rik UTSW 2 103,985,280 (GRCm39) missense probably damaging 1.00
Z1177:D430041D05Rik UTSW 2 104,071,536 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CCAGCACGGCTTGTCCCTAAATTC -3'
(R):5'- TGTTTGATCCCACAGACTGAGCCC -3'

Sequencing Primer
(F):5'- AATTCCAAAATTCTTGCTCTGGGTC -3'
(R):5'- CAGACTGAGCCCGAGATCATAG -3'
Posted On 2013-05-09