Incidental Mutation 'R7250:D430041D05Rik'
ID 563801
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 045350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R7250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104086961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 672 (T672A)
Ref Sequence ENSEMBL: ENSMUSP00000155485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]
AlphaFold A0A2R8VKG2
Predicted Effect probably benign
Transcript: ENSMUST00000089726
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373

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
Predicted Effect probably benign
Transcript: ENSMUST00000141159
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373

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 possibly damaging
Transcript: ENSMUST00000230671
AA Change: T672A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Actl7b T A 4: 56,741,035 (GRCm39) M108L probably benign Het
Adgrf3 T A 5: 30,400,680 (GRCm39) I934L probably damaging Het
Adprm A G 11: 66,932,450 (GRCm39) V153A probably benign Het
Aif1l G A 2: 31,859,764 (GRCm39) V109M probably damaging Het
Asphd1 T A 7: 126,545,942 (GRCm39) E307V probably damaging Het
Ate1 T A 7: 130,121,701 (GRCm39) probably benign Het
Borcs7 A G 19: 46,688,047 (GRCm39) H64R probably damaging Het
C1qtnf1 A G 11: 118,339,176 (GRCm39) *282W probably null Het
Cacna1c A G 6: 118,574,966 (GRCm39) C1985R Het
Cacna1c A T 6: 118,673,412 (GRCm39) V647E Het
Cacna1d A G 14: 29,797,108 (GRCm39) S1497P probably damaging Het
Cacna1e T A 1: 154,576,235 (GRCm39) I133F possibly damaging Het
Ccdc63 A T 5: 122,260,906 (GRCm39) L206H probably damaging Het
Cenatac A G 9: 44,323,748 (GRCm39) probably null Het
Cspg4b T G 13: 113,455,349 (GRCm39) I465R Het
D630045J12Rik G T 6: 38,119,546 (GRCm39) T1732K possibly damaging Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Ddx52 G A 11: 83,835,392 (GRCm39) G106D probably benign Het
Dock2 A G 11: 34,586,032 (GRCm39) V550A probably benign Het
Dock2 C T 11: 34,586,120 (GRCm39) D521N probably damaging Het
F13b T C 1: 139,444,227 (GRCm39) probably null Het
Fchsd2 A G 7: 100,908,892 (GRCm39) K431R possibly damaging Het
Fez1 C T 9: 36,779,090 (GRCm39) R256C probably damaging Het
Gjd4 T A 18: 9,280,391 (GRCm39) Q229L probably benign Het
Gpr45 T A 1: 43,071,531 (GRCm39) I58N probably damaging Het
Gstm1 T A 3: 107,923,709 (GRCm39) I99F probably damaging Het
Gtpbp8 T A 16: 44,564,225 (GRCm39) T149S probably damaging Het
H2-Ab1 A G 17: 34,486,481 (GRCm39) D180G probably damaging Het
Hdhd5 A G 6: 120,494,016 (GRCm39) I188T possibly damaging Het
Hfm1 T C 5: 107,052,197 (GRCm39) I300V probably benign Het
Hnrnpr T G 4: 136,059,746 (GRCm39) D283E probably benign Het
Hsp90b1 T C 10: 86,527,572 (GRCm39) E768G unknown Het
Kcna4 C A 2: 107,126,663 (GRCm39) Q466K possibly damaging Het
Kcnk6 A G 7: 28,931,619 (GRCm39) L97P probably benign Het
Kics2 T C 10: 121,581,376 (GRCm39) S126P possibly damaging Het
Klf5 A G 14: 99,536,455 (GRCm39) S9G probably benign Het
Kmt2c C A 5: 25,504,489 (GRCm39) K3606N probably damaging Het
Kmt2c T C 5: 25,514,805 (GRCm39) T3013A probably benign Het
Lancl1 A G 1: 67,048,458 (GRCm39) Y207H possibly damaging Het
Lipe G C 7: 25,088,085 (GRCm39) probably benign Het
Lrrc66 T A 5: 73,768,224 (GRCm39) H239L probably benign Het
Ltbp2 C T 12: 84,834,166 (GRCm39) W1441* probably null Het
Man2a1 T C 17: 64,943,583 (GRCm39) S213P probably benign Het
Mapre2 C T 18: 23,991,119 (GRCm39) A171V possibly damaging Het
Mdn1 T A 4: 32,695,427 (GRCm39) D1155E probably damaging Het
Mki67 T C 7: 135,301,053 (GRCm39) D1327G possibly damaging Het
Mx2 T C 16: 97,348,664 (GRCm39) I279T probably damaging Het
Myo5c A G 9: 75,169,497 (GRCm39) T441A probably damaging Het
Nlrp9a T G 7: 26,258,143 (GRCm39) V587G possibly damaging Het
Npas2 A T 1: 39,377,188 (GRCm39) T517S probably damaging Het
Npy1r T C 8: 67,157,712 (GRCm39) S341P probably benign Het
Ntm A G 9: 29,322,988 (GRCm39) W11R probably benign Het
Nxpe2 A T 9: 48,238,096 (GRCm39) I53N possibly damaging Het
Onecut2 T C 18: 64,519,511 (GRCm39) F443L probably benign Het
Or10g6 T A 9: 39,934,050 (GRCm39) Y120* probably null Het
Or2r2 A G 6: 42,463,689 (GRCm39) V146A probably benign Het
Or52ac1 A T 7: 104,245,738 (GRCm39) Y217N probably damaging Het
Parp2 T A 14: 51,054,801 (GRCm39) V248E probably benign Het
Pcdh12 C A 18: 38,415,029 (GRCm39) V699L probably benign Het
Pja2 G A 17: 64,616,451 (GRCm39) P148L probably benign Het
Poglut3 C T 9: 53,301,821 (GRCm39) Q158* probably null Het
Ppip5k2 T G 1: 97,673,187 (GRCm39) D415A probably benign Het
Prss47 A G 13: 65,200,355 (GRCm39) S74P probably benign Het
Ptprg G T 14: 12,166,767 (GRCm38) M723I probably benign Het
Qsox2 A T 2: 26,118,444 (GRCm39) I109N probably damaging Het
Ranbp3l A G 15: 9,041,853 (GRCm39) E217G probably benign Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rgs12 T A 5: 35,122,841 (GRCm39) F208Y probably damaging Het
Rin3 C T 12: 102,334,893 (GRCm39) T268I unknown Het
Rttn T A 18: 89,007,647 (GRCm39) D427E probably benign Het
Samd13 G A 3: 146,352,079 (GRCm39) P91S probably benign Het
Samd9l T C 6: 3,374,201 (GRCm39) D1020G possibly damaging Het
Sec62 T G 3: 30,866,496 (GRCm39) L201V possibly damaging Het
Setdb1 C T 3: 95,261,852 (GRCm39) probably null Het
Sf3a3 A T 4: 124,616,708 (GRCm39) T197S probably benign Het
Slc20a1 A T 2: 129,051,844 (GRCm39) I618F possibly damaging Het
Slc38a3 A T 9: 107,533,865 (GRCm39) M186K probably benign Het
Slc39a13 T C 2: 90,893,503 (GRCm39) T319A probably benign Het
Slc44a4 T C 17: 35,137,520 (GRCm39) probably null Het
St3gal1 A C 15: 66,978,578 (GRCm39) D314E possibly damaging Het
Suclg1 A G 6: 73,248,074 (GRCm39) N265S probably benign Het
Sult2b1 A T 7: 45,433,361 (GRCm39) V2D unknown Het
Supv3l1 T A 10: 62,280,846 (GRCm39) I182F probably damaging Het
Tcp11l2 T C 10: 84,423,105 (GRCm39) probably null Het
Tenm2 C A 11: 35,963,625 (GRCm39) L935F probably damaging Het
Tnks T A 8: 35,318,912 (GRCm39) I790F probably damaging Het
Top2b C T 14: 16,420,411 (GRCm38) T1274I probably benign Het
Tpi1 A T 6: 124,789,441 (GRCm39) I178N probably damaging Het
Trav9d-1 A T 14: 53,030,153 (GRCm39) S86C probably damaging Het
Treml2 A G 17: 48,616,155 (GRCm39) E265G probably benign Het
Trpm7 A T 2: 126,668,685 (GRCm39) S744T possibly damaging Het
Usp33 T A 3: 152,097,999 (GRCm39) L909* probably null Het
Vcan A G 13: 89,869,805 (GRCm39) I210T probably damaging Het
Vcan A T 13: 89,879,576 (GRCm39) probably null Het
Vsig10l A T 7: 43,113,099 (GRCm39) D17V probably benign Het
Zbtb7b T A 3: 89,286,976 (GRCm39) T498S probably benign Het
Zfp366 T A 13: 99,366,076 (GRCm39) H412Q probably damaging Het
Zfp53 C A 17: 21,729,840 (GRCm39) D624E probably damaging Het
Zfp827 A T 8: 79,916,721 (GRCm39) D432V Het
Zic1 T C 9: 91,247,028 (GRCm39) T15A probably damaging Het
Zswim8 T C 14: 20,770,036 (GRCm39) C1368R 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
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
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
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'- AAGTCTGTGTGGCTTTCGACTAC -3'
(R):5'- TCGGCTTCCAAACAGGTGAC -3'

Sequencing Primer
(F):5'- CGACTACGGCCTCTTCTGAG -3'
(R):5'- GGTGACAGAACTTCCCTCC -3'
Posted On 2019-06-26