Incidental Mutation 'R9335:D430041D05Rik'
ID 707042
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R9335 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104078674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 530 (M530K)
Ref Sequence ENSEMBL: ENSMUSP00000106756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]
AlphaFold A0A2R8VKG2
Predicted Effect probably damaging
Transcript: ENSMUST00000089726
AA Change: M530K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: M530K

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: M530K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: M415K

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: M1214K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,852,830 (GRCm39) T102K probably damaging Het
Afm A T 5: 90,698,086 (GRCm39) D496V probably damaging Het
Aldh1l2 C T 10: 83,342,510 (GRCm39) M546I probably damaging Het
Apol7c G T 15: 77,409,889 (GRCm39) N352K probably benign Het
Arfgef1 A T 1: 10,228,236 (GRCm39) D1319E probably damaging Het
Atl2 A G 17: 80,160,207 (GRCm39) I460T probably benign Het
Brms1l C A 12: 55,888,431 (GRCm39) T73K possibly damaging Het
C1rl A T 6: 124,482,341 (GRCm39) H154L probably benign Het
Cacna2d4 T A 6: 119,279,014 (GRCm39) L709Q probably damaging Het
Cd101 A T 3: 100,915,431 (GRCm39) V716D probably benign Het
Cd177 A G 7: 24,443,711 (GRCm39) S796P probably benign Het
Dcbld2 A T 16: 58,272,141 (GRCm39) Q399L probably benign Het
Dennd4b T C 3: 90,175,611 (GRCm39) Y138H probably damaging Het
Dmxl1 A G 18: 49,992,187 (GRCm39) N311S probably damaging Het
Dnai2 A G 11: 114,625,489 (GRCm39) I107V probably benign Het
Dync2h1 A C 9: 7,112,149 (GRCm39) V2480G possibly damaging Het
Ect2l T A 10: 18,077,032 (GRCm39) T24S probably null Het
Egfr C A 11: 16,820,991 (GRCm39) T302K probably damaging Het
Eid1 T G 2: 125,515,578 (GRCm39) I156S possibly damaging Het
Elmod1 A T 9: 53,843,116 (GRCm39) W21R probably benign Het
Enah G A 1: 181,749,450 (GRCm39) P463L probably damaging Het
Epha7 A G 4: 28,966,529 (GRCm39) Y602C probably benign Het
Ermap T A 4: 119,035,545 (GRCm39) Y481F probably damaging Het
Fam114a2 G T 11: 57,397,748 (GRCm39) T231N possibly damaging Het
Gdap1 A G 1: 17,231,389 (GRCm39) T245A probably benign Het
Glmp T A 3: 88,235,563 (GRCm39) V368D probably damaging Het
Gm10203 C T 6: 149,031,815 (GRCm39) A40V unknown Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hao2 C A 3: 98,791,010 (GRCm39) V55L possibly damaging Het
Hemgn A T 4: 46,394,647 (GRCm39) S488T probably benign Het
Ighv12-3 C T 12: 114,330,312 (GRCm39) G61E probably damaging Het
Itga2b T C 11: 102,346,478 (GRCm39) E986G probably damaging Het
Laptm5 T G 4: 130,656,839 (GRCm39) S167A Het
Lmtk3 A T 7: 45,442,165 (GRCm39) Y377F probably damaging Het
Lrp2 A G 2: 69,258,983 (GRCm39) I4569T probably benign Het
Magi2 A G 5: 20,866,263 (GRCm39) N176D Het
Mcf2l C A 8: 13,050,812 (GRCm39) H356N possibly damaging Het
Mettl4 T A 17: 95,042,936 (GRCm39) Y300F probably damaging Het
Naaladl2 T G 3: 24,467,532 (GRCm39) K307N possibly damaging Het
Or1a1b T A 11: 74,097,832 (GRCm39) D70V probably damaging Het
Or2aj4 G A 16: 19,385,513 (GRCm39) T40I probably benign Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or6c8b C T 10: 128,882,614 (GRCm39) G106E probably damaging Het
Phip T A 9: 82,814,979 (GRCm39) M248L probably benign Het
Picalm A G 7: 89,825,491 (GRCm39) T300A probably benign Het
Ppa1 T G 10: 61,484,562 (GRCm39) V19G possibly damaging Het
Ppp4r3a T C 12: 101,007,013 (GRCm39) Y793C probably damaging Het
Prlr A T 15: 10,325,357 (GRCm39) I177F probably benign Het
Prodh C A 16: 17,894,160 (GRCm39) G457V probably damaging Het
Prrt3 T C 6: 113,475,058 (GRCm39) K55E probably benign Het
Prx G T 7: 27,217,496 (GRCm39) V805L probably damaging Het
Ptk6 T G 2: 180,844,146 (GRCm39) D51A probably damaging Het
Rec114 T A 9: 58,565,041 (GRCm39) Q205L probably null Het
Rfwd3 T G 8: 112,006,567 (GRCm39) K510Q possibly damaging Het
Sdhb C T 4: 140,700,250 (GRCm39) R117C probably benign Het
Serinc2 T G 4: 130,158,220 (GRCm39) T21P probably benign Het
Serpinb3a A C 1: 106,974,886 (GRCm39) F216V probably damaging Het
Sertm1 T C 3: 54,806,929 (GRCm39) D32G probably damaging Het
Setx A G 2: 29,035,963 (GRCm39) D816G probably benign Het
Sfxn4 T A 19: 60,839,494 (GRCm39) N188I probably damaging Het
Slc26a4 T C 12: 31,575,553 (GRCm39) D711G probably damaging Het
Sp9 T C 2: 73,104,621 (GRCm39) F392L probably damaging Het
Ssbp1 T C 6: 40,454,955 (GRCm39) L138P probably damaging Het
Sv2a G A 3: 96,092,588 (GRCm39) G96E probably damaging Het
Tbc1d9 G T 8: 83,937,160 (GRCm39) G81C possibly damaging Het
Tmem67 G A 4: 12,040,640 (GRCm39) Q968* probably null Het
Tnni2 T C 7: 141,998,003 (GRCm39) S169P probably damaging Het
Tpk1 T C 6: 43,446,084 (GRCm39) probably null Het
Unc13b T A 4: 43,216,123 (GRCm39) Y141N possibly damaging Het
Unc13b A T 4: 43,255,551 (GRCm39) E1057D probably damaging Het
Usf3 G T 16: 44,041,936 (GRCm39) G2139C probably damaging Het
Vmn1r36 A T 6: 66,693,430 (GRCm39) Y148* probably null Het
Vmn2r42 A C 7: 8,197,758 (GRCm39) M287R probably damaging Het
Vmn2r60 A T 7: 41,844,332 (GRCm39) H565L probably damaging Het
Zfp518a G A 19: 40,901,225 (GRCm39) V385I probably benign Het
Zfp974 A T 7: 27,611,476 (GRCm39) M83K 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
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
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'- GCACACACTTACATTTGCATGTG -3'
(R):5'- AGCCTTGGGTTCAACCATGC -3'

Sequencing Primer
(F):5'- ACATTTGCATGTGACAGTTTAGATGG -3'
(R):5'- CTGCAATAAATCATCTTAAGAGGCAC -3'
Posted On 2022-04-18