Incidental Mutation 'R0540:D430041D05Rik'
ID 49775
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 038732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R0540 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104063790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1354 (R1354H)
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: R670H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: R670H

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: R670H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000141159
AA Change: R555H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: R555H

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 noncoding transcript
Transcript: ENSMUST00000156278
Predicted Effect probably damaging
Transcript: ENSMUST00000230671
AA Change: R1354H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,627 (GRCm39) T199A possibly damaging Het
Als2cl C A 9: 110,724,852 (GRCm39) Y775* probably null Het
Ankhd1 G T 18: 36,773,333 (GRCm39) V59F probably damaging Het
Ano4 T A 10: 88,859,806 (GRCm39) I395F probably benign Het
Apcdd1 A G 18: 63,084,967 (GRCm39) N388S possibly damaging Het
Arl9 A G 5: 77,155,118 (GRCm39) Y83C possibly damaging Het
Armc2 T A 10: 41,798,691 (GRCm39) H706L probably benign Het
Arrb1 T C 7: 99,237,403 (GRCm39) probably null Het
Atxn1 G A 13: 45,711,006 (GRCm39) S642L probably damaging Het
Bmp8a A G 4: 123,209,723 (GRCm39) Y322H probably damaging Het
Btbd3 C T 2: 138,125,736 (GRCm39) R307W possibly damaging Het
C1galt1 T C 6: 7,871,193 (GRCm39) I343T probably benign Het
Capn2 A T 1: 182,319,749 (GRCm39) Y146* probably null Het
Ccdc42 C T 11: 68,488,536 (GRCm39) Q312* probably null Het
Cd209e T C 8: 3,901,265 (GRCm39) K130E probably benign Het
Chd3 T C 11: 69,235,184 (GRCm39) D2054G probably damaging Het
Chrna1 T C 2: 73,401,815 (GRCm39) N161S probably damaging Het
Clp1 C T 2: 84,555,935 (GRCm39) A182T possibly damaging Het
Cpsf7 G T 19: 10,510,682 (GRCm39) E135* probably null Het
Csf2rb2 T C 15: 78,172,108 (GRCm39) Y325C probably benign Het
Cspg5 T C 9: 110,076,460 (GRCm39) probably null Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cyp2b13 G A 7: 25,781,136 (GRCm39) V183I probably benign Het
Ddx24 A G 12: 103,385,326 (GRCm39) Y426H possibly damaging Het
Dexi G T 16: 10,360,426 (GRCm39) Y43* probably null Het
Dlg1 G A 16: 31,656,992 (GRCm39) V596I possibly damaging Het
Dnah11 A C 12: 118,046,246 (GRCm39) W1731G probably damaging Het
Dnhd1 T A 7: 105,369,995 (GRCm39) N4473K probably benign Het
Dync2h1 A C 9: 7,051,480 (GRCm39) S3152A probably benign Het
Edn3 C A 2: 174,602,767 (GRCm39) P3Q probably damaging Het
Eif2a G A 3: 58,463,073 (GRCm39) probably null Het
Emb G A 13: 117,369,286 (GRCm39) V56I possibly damaging Het
Enpp4 A T 17: 44,410,386 (GRCm39) C397S probably damaging Het
Exo5 A G 4: 120,779,178 (GRCm39) V229A probably damaging Het
Fga G A 3: 82,935,869 (GRCm39) G32E probably damaging Het
Fkbpl T C 17: 34,864,333 (GRCm39) F34L probably benign Het
Fsd2 T A 7: 81,194,765 (GRCm39) D466V probably damaging Het
Gcn1 T C 5: 115,727,015 (GRCm39) V624A probably benign Het
Git2 A G 5: 114,886,335 (GRCm39) F336L probably damaging Het
Greb1 T A 12: 16,732,194 (GRCm39) Y1589F probably damaging Het
H2-K2 G T 17: 34,218,474 (GRCm39) D127E probably damaging Het
Ints8 A G 4: 11,252,926 (GRCm39) V52A possibly damaging Het
Kifc1 G A 17: 34,105,621 (GRCm39) T62I probably damaging Het
Klhl6 C A 16: 19,775,764 (GRCm39) D265Y possibly damaging Het
Kmt5a T A 5: 124,589,373 (GRCm39) N190K probably damaging Het
Lce6a A T 3: 92,527,635 (GRCm39) H57Q probably benign Het
Lipo3 A T 19: 33,536,967 (GRCm39) I251K possibly damaging Het
Lnpep A T 17: 17,758,816 (GRCm39) F843I probably damaging Het
Lrrc45 C T 11: 120,605,988 (GRCm39) R99* probably null Het
Lrrtm1 C A 6: 77,221,611 (GRCm39) A356E probably damaging Het
Map3k1 A C 13: 111,900,044 (GRCm39) H493Q probably benign Het
Mcm4 A T 16: 15,449,979 (GRCm39) probably null Het
Mllt3 G A 4: 87,759,281 (GRCm39) P256S possibly damaging Het
Mrtfb A G 16: 13,199,465 (GRCm39) E106G probably damaging Het
Myo7a T A 7: 97,721,153 (GRCm39) T1271S probably damaging Het
Ncan C A 8: 70,567,809 (GRCm39) R101L possibly damaging Het
Ndufaf7 A G 17: 79,253,885 (GRCm39) D361G probably benign Het
Neurod6 C T 6: 55,656,572 (GRCm39) A22T probably benign Het
Nexn T A 3: 151,953,879 (GRCm39) K192* probably null Het
Nipsnap2 A T 5: 129,831,909 (GRCm39) Y234F probably damaging Het
Nlrp10 T C 7: 108,523,492 (GRCm39) K663E probably benign Het
Nprl2 A T 9: 107,422,497 (GRCm39) Y329F possibly damaging Het
Nr2f2 C A 7: 70,004,460 (GRCm39) R264L probably damaging Het
Nsun7 A T 5: 66,440,977 (GRCm39) K366I probably damaging Het
Nup35 T A 2: 80,472,984 (GRCm39) M19K probably benign Het
Or10a4 T A 7: 106,696,933 (GRCm39) I87K probably benign Het
Or11i1 A T 3: 106,729,829 (GRCm39) F15L probably damaging Het
Or1ad6 C A 11: 50,860,670 (GRCm39) A275D possibly damaging Het
Or2v1 C G 11: 49,025,549 (GRCm39) H177D probably damaging Het
Or2w2 T A 13: 21,757,948 (GRCm39) Y226F probably benign Het
Or5af1 T A 11: 58,722,798 (GRCm39) S273T probably damaging Het
Or5p51 A G 7: 107,444,776 (GRCm39) S55P probably damaging Het
Patl2 T C 2: 121,957,150 (GRCm39) Y128C probably benign Het
Pcdhac2 A G 18: 37,278,942 (GRCm39) I641V probably benign Het
Peli3 T C 19: 4,991,939 (GRCm39) M1V probably null Het
Pex16 T A 2: 92,205,982 (GRCm39) L25* probably null Het
Plekhn1 C A 4: 156,307,204 (GRCm39) A449S possibly damaging Het
Pot1b A T 17: 55,972,765 (GRCm39) I469N probably damaging Het
Prdx6 A C 1: 161,078,673 (GRCm39) L5W probably damaging Het
Prrc1 G A 18: 57,507,622 (GRCm39) V259I possibly damaging Het
Prss38 T C 11: 59,266,369 (GRCm39) S30G possibly damaging Het
Rgs6 C A 12: 83,106,578 (GRCm39) Y151* probably null Het
Ripk4 A C 16: 97,545,375 (GRCm39) L361R probably damaging Het
Serpinb3d C T 1: 107,006,962 (GRCm39) D249N probably benign Het
Skint10 A T 4: 112,630,224 (GRCm39) probably null Het
Smg7 A T 1: 152,731,713 (GRCm39) N349K probably benign Het
Sohlh2 C A 3: 55,115,104 (GRCm39) S363Y probably damaging Het
Srsf10 A G 4: 135,591,179 (GRCm39) T210A possibly damaging Het
Synpo2l A T 14: 20,710,748 (GRCm39) M624K probably damaging Het
Thsd7a T A 6: 12,331,541 (GRCm39) probably null Het
Tnc A T 4: 63,938,692 (GRCm39) V49E probably damaging Het
Tnik A C 3: 28,704,308 (GRCm39) K989T probably damaging Het
Tnxb T A 17: 34,890,892 (GRCm39) Y412N probably damaging Het
Trmt44 A G 5: 35,726,103 (GRCm39) probably null Het
Tsc2 A T 17: 24,840,686 (GRCm39) V391E probably damaging Het
Ttll5 T C 12: 85,980,450 (GRCm39) probably null Het
Usp28 A G 9: 48,935,360 (GRCm39) I104V probably benign Het
Vmn1r64 A G 7: 5,887,096 (GRCm39) L149S probably damaging Het
Yme1l1 T A 2: 23,082,527 (GRCm39) M506K possibly damaging Het
Zfp280d T A 9: 72,215,247 (GRCm39) F98I probably damaging Het
Zfp62 C A 11: 49,106,227 (GRCm39) T106K 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
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'- TGACACTGTGCATCTGTGAGGGAC -3'
(R):5'- TGATCTGCCTTGGAGGAGAAGTGAG -3'

Sequencing Primer
(F):5'- CATGCTAGAGATGGATTCTCAATGG -3'
(R):5'- GGCCAAGCTCCAGTGTAAG -3'
Posted On 2013-06-12