Incidental Mutation 'R1605:D430041D05Rik'
ID 176378
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 039642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R1605 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104085915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 22 (V22A)
Ref Sequence ENSEMBL: ENSMUSP00000124980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000149466] [ENSMUST00000230671]
AlphaFold A0A2R8VKG2
Predicted Effect probably benign
Transcript: ENSMUST00000089726
AA Change: V194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: V194A

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 benign
Transcript: ENSMUST00000136156
AA Change: V194A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect
SMART Domains Protein: ENSMUSP00000124519
Gene: ENSMUSG00000068373
AA Change: V137A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000141159
AA Change: V79A
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: V79A

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 noncoding transcript
Transcript: ENSMUST00000149165
Predicted Effect possibly damaging
Transcript: ENSMUST00000149466
AA Change: V22A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124980
Gene: ENSMUSG00000068373
AA Change: V22A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 46 58 N/A INTRINSIC
low complexity region 62 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151310
Predicted Effect probably benign
Transcript: ENSMUST00000230671
AA Change: V878A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,506,104 (GRCm39) K211E probably damaging Het
Acot7 A G 4: 152,291,285 (GRCm39) I84V possibly damaging Het
Ankrd44 A G 1: 54,867,781 (GRCm39) V34A probably benign Het
Atp4b A T 8: 13,443,489 (GRCm39) M63K probably damaging Het
Atr T A 9: 95,818,516 (GRCm39) I2163K probably damaging Het
Azgp1 A T 5: 137,983,426 (GRCm39) R34* probably null Het
Ccdc152 T G 15: 3,327,603 (GRCm39) K58T probably damaging Het
Ccdc88b T A 19: 6,827,837 (GRCm39) Q912L probably benign Het
Cdc42ep5 T A 7: 4,154,395 (GRCm39) H131L probably benign Het
Chd7 G A 4: 8,844,675 (GRCm39) E1595K probably damaging Het
Col11a1 G A 3: 113,925,290 (GRCm39) G41D probably damaging Het
Cyp2b23 C T 7: 26,385,843 (GRCm39) V5I probably benign Het
Ddi1 T C 9: 6,266,012 (GRCm39) Y119C probably benign Het
Dysf T C 6: 84,083,923 (GRCm39) L785P probably damaging Het
Eqtn T A 4: 94,816,587 (GRCm39) T69S possibly damaging Het
F11 T A 8: 45,694,617 (GRCm39) K581N probably damaging Het
Gli2 G A 1: 118,782,290 (GRCm39) P172S probably damaging Het
Gm7579 G T 7: 141,765,603 (GRCm39) C3F unknown Het
Grin2a A G 16: 9,481,194 (GRCm39) V501A possibly damaging Het
Grk4 G A 5: 34,831,901 (GRCm39) D57N probably damaging Het
Gsdma A T 11: 98,557,319 (GRCm39) D86V probably damaging Het
Gsx1 A G 5: 147,126,738 (GRCm39) E187G probably damaging Het
Hdac1-ps A G 17: 78,799,537 (GRCm39) D176G probably damaging Het
Inpp5k T A 11: 75,524,307 (GRCm39) F75L probably benign Het
Itpr1 T C 6: 108,326,620 (GRCm39) V114A possibly damaging Het
Izumo3 A T 4: 92,032,977 (GRCm39) C130S probably damaging Het
Mei4 G A 9: 81,809,639 (GRCm39) E241K possibly damaging Het
Mocs2 T C 13: 114,961,120 (GRCm39) V39A probably benign Het
Mroh2b G A 15: 4,974,572 (GRCm39) R1184H probably benign Het
Msh3 T C 13: 92,436,783 (GRCm39) Q509R probably null Het
Myh8 T C 11: 67,192,497 (GRCm39) W1459R probably damaging Het
Mypop T A 7: 18,734,918 (GRCm39) probably benign Het
Ndc1 C A 4: 107,225,293 (GRCm39) T3K probably damaging Het
Nf1 A C 11: 79,331,749 (GRCm39) M695L probably benign Het
Nup50l A G 6: 96,141,793 (GRCm39) M417T probably benign Het
Nutm2 C A 13: 50,623,955 (GRCm39) D217E possibly damaging Het
Or52a20 T C 7: 103,365,858 (GRCm39) I19T probably damaging Het
Or5b122 A G 19: 13,562,994 (GRCm39) T109A probably benign Het
Pde6c C A 19: 38,129,940 (GRCm39) D283E probably damaging Het
Phldb2 A G 16: 45,591,142 (GRCm39) probably benign Het
Pigt G C 2: 164,349,419 (GRCm39) R574P probably damaging Het
Pkd1 T C 17: 24,796,500 (GRCm39) I2354T possibly damaging Het
Prdm15 T C 16: 97,640,506 (GRCm39) E27G probably damaging Het
Ptpn14 A G 1: 189,597,709 (GRCm39) I1140V probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rfx7 T C 9: 72,519,071 (GRCm39) S258P probably damaging Het
Rnf17 G T 14: 56,730,822 (GRCm39) G1209C probably damaging Het
S1pr4 C T 10: 81,335,225 (GRCm39) probably null Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpinb1b T A 13: 33,277,646 (GRCm39) V293E possibly damaging Het
Serpinb9b T C 13: 33,222,112 (GRCm39) probably null Het
Sez6l A C 5: 112,622,915 (GRCm39) I212S probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag9 G A 11: 93,939,365 (GRCm39) R98H probably damaging Het
Spata31e2 A T 1: 26,723,511 (GRCm39) H556Q possibly damaging Het
St3gal5 T C 6: 72,119,272 (GRCm39) L128P probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Stxbp5l A G 16: 37,028,473 (GRCm39) V530A probably benign Het
Tatdn1 A G 15: 58,793,039 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,430,206 (GRCm39) S466P probably benign Het
Tmem199 A T 11: 78,399,152 (GRCm39) M175K possibly damaging Het
Trmt12 A G 15: 58,744,764 (GRCm39) E54G probably benign Het
Usp37 G T 1: 74,532,163 (GRCm39) Q77K possibly damaging Het
Vezf1 A G 11: 87,967,125 (GRCm39) I301V possibly damaging Het
Vmn1r34 T G 6: 66,613,932 (GRCm39) M269L probably benign Het
Wdr93 C A 7: 79,421,257 (GRCm39) probably null Het
Wnk2 T C 13: 49,214,370 (GRCm39) D644G probably damaging Het
Zc3h13 C T 14: 75,574,923 (GRCm39) R1591* probably null Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp180 T A 7: 23,804,049 (GRCm39) V156D probably benign Het
Zfp646 G T 7: 127,479,359 (GRCm39) probably null Het
Zscan12 C A 13: 21,550,813 (GRCm39) T144K probably benign 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
R0265:D430041D05Rik UTSW 2 103,998,295 (GRCm39) missense probably damaging 1.00
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
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'- AGGTGTGTTGTGGACAACAGGC -3'
(R):5'- TTCAGTAGTGAGGTGCAGCTCCAG -3'

Sequencing Primer
(F):5'- ACACAGAGCCTGTTGCC -3'
(R):5'- TGCTGTAAGCGGCATTCTC -3'
Posted On 2014-04-24