Incidental Mutation 'R7472:D430041D05Rik'
ID 581262
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 045546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R7472 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103973418-104241358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104240484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 9 (Q9K)
Ref Sequence ENSEMBL: ENSMUSP00000106756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]
AlphaFold A0A2R8VKG2
Predicted Effect unknown
Transcript: ENSMUST00000089726
AA Change: Q9K
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: Q9K

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 unknown
Transcript: ENSMUST00000136156
AA Change: Q9K
Predicted Effect
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: Q9K

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 benign
Transcript: ENSMUST00000230671
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (99/100)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
4921524J17Rik G A 8: 86,159,438 (GRCm39) probably benign Het
4932438H23Rik T C 16: 90,852,744 (GRCm39) T131A probably benign Het
Acbd6 G T 1: 155,463,213 (GRCm39) E138* probably null Het
Ago3 A G 4: 126,239,310 (GRCm39) V847A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Als2cl C A 9: 110,727,174 (GRCm39) H913Q probably benign Het
Atf6 A C 1: 170,643,060 (GRCm39) S360R possibly damaging Het
Atm G C 9: 53,359,425 (GRCm39) N2789K possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifa6 A T 2: 153,831,249 (GRCm39) I272F possibly damaging Het
Cabin1 G T 10: 75,494,481 (GRCm39) P1633T probably damaging Het
Camsap2 A G 1: 136,209,131 (GRCm39) V119A probably damaging Het
Ccdc40 A G 11: 119,153,974 (GRCm39) E1082G probably benign Het
Cchcr1 C A 17: 35,839,248 (GRCm39) A479D probably damaging Het
Chpt1 C T 10: 88,312,230 (GRCm39) V349I probably benign Het
Cldn13 A T 5: 134,943,975 (GRCm39) I70K probably damaging Het
Col6a6 T A 9: 105,659,622 (GRCm39) D441V probably damaging Het
Cpne5 G T 17: 29,423,714 (GRCm39) T138K probably benign Het
Creb3l3 A T 10: 80,925,301 (GRCm39) probably null Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cyp19a1 A G 9: 54,074,277 (GRCm39) Y426H possibly damaging Het
Cyth4 T C 15: 78,490,094 (GRCm39) F72S probably damaging Het
Dnah1 T A 14: 30,983,547 (GRCm39) I4099F probably damaging Het
Dnah1 T A 14: 31,022,748 (GRCm39) I1130F possibly damaging Het
Dnah12 A G 14: 26,578,592 (GRCm39) K3117R probably benign Het
Dpf3 A T 12: 83,319,159 (GRCm39) S275R probably benign Het
Dst A G 1: 34,257,578 (GRCm39) N2450S probably benign Het
Dync1h1 C T 12: 110,632,109 (GRCm39) R4460W probably damaging Het
Ecm1 A C 3: 95,642,632 (GRCm39) C414G possibly damaging Het
Eef2 G A 10: 81,015,384 (GRCm39) D302N probably benign Het
Egf T C 3: 129,479,912 (GRCm39) D1038G possibly damaging Het
Epm2aip1 T C 9: 111,101,467 (GRCm39) S147P probably damaging Het
Esam C A 9: 37,448,863 (GRCm39) P324T possibly damaging Het
Fbxo36 A G 1: 84,874,301 (GRCm39) D99G probably damaging Het
Fhad1 G A 4: 141,691,937 (GRCm39) R400C probably benign Het
Fhip2a A G 19: 57,357,017 (GRCm39) Y36C probably damaging Het
Fndc3b T C 3: 27,515,893 (GRCm39) T638A probably benign Het
Gba2 T C 4: 43,568,967 (GRCm39) T563A probably benign Het
Gm8180 T A 14: 44,021,094 (GRCm39) N38I possibly damaging Het
Hs3st4 A G 7: 123,996,249 (GRCm39) E305G probably damaging Het
Ireb2 T A 9: 54,791,338 (GRCm39) F191I probably benign Het
Irx3 T G 8: 92,526,625 (GRCm39) T360P probably benign Het
Itpr1 T A 6: 108,380,357 (GRCm39) I1375N probably benign Het
Klrh1 A T 6: 129,752,345 (GRCm39) F57I probably benign Het
Lama4 A T 10: 38,963,369 (GRCm39) I1314F possibly damaging Het
Lamb2 C A 9: 108,363,347 (GRCm39) A842D probably benign Het
Ldlrap1 A G 4: 134,486,307 (GRCm39) Y51H possibly damaging Het
Leo1 A G 9: 75,355,623 (GRCm39) D321G probably damaging Het
Lrrc14b A G 13: 74,511,226 (GRCm39) S285P probably damaging Het
Macf1 A G 4: 123,326,860 (GRCm39) V4881A probably benign Het
Mfsd2b A T 12: 4,916,481 (GRCm39) F333I probably damaging Het
Micall1 T C 15: 79,006,760 (GRCm39) S196P unknown Het
Mrps21 T C 3: 95,770,110 (GRCm39) N73S probably benign Het
Msantd5f5 G A 4: 73,542,736 (GRCm39) G79S probably damaging Het
Msln C T 17: 25,969,708 (GRCm39) V341M possibly damaging Het
Mybpc3 A T 2: 90,962,001 (GRCm39) M840L probably damaging Het
Myo7a A C 7: 97,714,000 (GRCm39) F1613V probably damaging Het
Naprt C T 15: 75,763,607 (GRCm39) probably null Het
Nbr1 T C 11: 101,462,765 (GRCm39) V572A probably damaging Het
Nfkbie A T 17: 45,870,233 (GRCm39) T193S probably damaging Het
Nlrp14 T G 7: 106,789,251 (GRCm39) N672K probably benign Het
Or11l3 A T 11: 58,516,260 (GRCm39) I204N probably damaging Het
Or4b1d A G 2: 89,968,668 (GRCm39) Y272H probably damaging Het
Or52ab2 A G 7: 102,969,656 (GRCm39) T13A Het
Or5b101 T C 19: 13,005,439 (GRCm39) T85A probably benign Het
Or6k14 A T 1: 173,927,299 (GRCm39) I92F probably damaging Het
Or8b49 A T 9: 38,506,200 (GRCm39) I228L probably benign Het
Oscar T C 7: 3,614,149 (GRCm39) T197A possibly damaging Het
P3h3 C A 6: 124,827,594 (GRCm39) A481S possibly damaging Het
Pcdh8 T C 14: 80,008,691 (GRCm39) probably null Het
Pcsk9 A T 4: 106,316,094 (GRCm39) H116Q probably benign Het
Ptcd1 A G 5: 145,091,540 (GRCm39) F520L possibly damaging Het
Rapgef2 T C 3: 78,976,580 (GRCm39) T1261A probably benign Het
Ribc2 T A 15: 85,019,446 (GRCm39) M76K probably benign Het
Sin3b A G 8: 73,479,853 (GRCm39) E853G probably damaging Het
Slit2 A G 5: 48,414,180 (GRCm39) D940G probably damaging Het
Smarcb1 T A 10: 75,733,373 (GRCm39) N342Y probably damaging Het
Smurf2 A T 11: 106,726,921 (GRCm39) I469N probably damaging Het
Spata31h1 T C 10: 82,119,421 (GRCm39) I4530V probably benign Het
Spta1 T C 1: 174,074,065 (GRCm39) Y2335H probably damaging Het
Suz12 C T 11: 79,915,801 (GRCm39) R425C probably benign Het
Synpo G A 18: 60,762,895 (GRCm39) A4V probably benign Het
Tet1 A C 10: 62,649,129 (GRCm39) S157A possibly damaging Het
Themis A G 10: 28,637,415 (GRCm39) E173G possibly damaging Het
Timmdc1 A T 16: 38,325,780 (GRCm39) L197* probably null Het
Tmem63c T C 12: 87,115,932 (GRCm39) F191S possibly damaging Het
Tnn G A 1: 159,937,917 (GRCm39) T1200I probably benign Het
Traf6 A G 2: 101,527,537 (GRCm39) H429R probably benign Het
Trem3 T C 17: 48,556,873 (GRCm39) S115P probably benign Het
Trip11 A T 12: 101,851,639 (GRCm39) N808K probably benign Het
Trub2 A T 2: 29,673,385 (GRCm39) V106E probably damaging Het
Ugcg A G 4: 59,217,156 (GRCm39) I227V probably benign Het
Vat1l G A 8: 114,963,539 (GRCm39) probably null Het
Vmn1r184 T C 7: 25,966,824 (GRCm39) M190T possibly damaging Het
Vmn2r3 T C 3: 64,182,953 (GRCm39) T249A probably benign Het
Zfp729b A C 13: 67,742,002 (GRCm39) S88A probably benign Het
Zfp995 T C 17: 22,099,181 (GRCm39) Y351C 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
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
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'- ATAAAAGCCTGGCGGTGCTG -3'
(R):5'- TCCAGTGAACCGACAGAGATAG -3'

Sequencing Primer
(F):5'- AAGCGCTTACCGGAGTCG -3'
(R):5'- TCGAGGTGTAGCATCCGG -3'
Posted On 2019-10-17