Incidental Mutation 'R2240:D430041D05Rik'
ID 240291
Institutional Source Beutler Lab
Gene Symbol D430041D05Rik
Ensembl Gene ENSMUSG00000068373
Gene Name RIKEN cDNA D430041D05 gene
Synonyms G2
MMRRC Submission 040240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R2240 (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 103987161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1895 (R1895Q)
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: R1210Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: R1210Q

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: R1211Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000141159
AA Change: R1096Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: R1096Q

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: ENSMUST00000155458
Predicted Effect probably damaging
Transcript: ENSMUST00000230671
AA Change: R1895Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,417 (GRCm39) I318N probably damaging Het
Abl1 A G 2: 31,690,517 (GRCm39) K679E probably benign Het
Actr8 A G 14: 29,711,714 (GRCm39) H420R possibly damaging Het
Arhgap29 T A 3: 121,805,102 (GRCm39) V897D probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bicc1 A G 10: 70,782,633 (GRCm39) probably null Het
Brd4 T C 17: 32,432,613 (GRCm39) probably benign Het
Camk2g T C 14: 20,815,514 (GRCm39) E184G probably damaging Het
Camta1 T C 4: 151,169,032 (GRCm39) S240G possibly damaging Het
Cbx7 C A 15: 79,802,558 (GRCm39) A240S probably damaging Het
Ccdc181 A T 1: 164,107,596 (GRCm39) D93V probably damaging Het
Ces2g A C 8: 105,689,134 (GRCm39) S37R probably benign Het
Clca3a1 T A 3: 144,714,746 (GRCm39) R624W probably damaging Het
Clca3b T C 3: 144,531,696 (GRCm39) K703E probably benign Het
Clec2h T C 6: 128,652,845 (GRCm39) V204A probably benign Het
Cltb T C 13: 54,746,967 (GRCm39) N3S possibly damaging Het
Col9a1 A G 1: 24,218,582 (GRCm39) I65V unknown Het
Dnah1 T C 14: 31,021,931 (GRCm39) S1191G probably benign Het
Ehf G A 2: 103,104,420 (GRCm39) P163S probably benign Het
Fam170b A C 14: 32,557,825 (GRCm39) H220P probably damaging Het
Fastkd1 G A 2: 69,527,297 (GRCm39) T598I probably benign Het
Fignl2 C T 15: 100,951,916 (GRCm39) G122D probably damaging Het
Foxp4 C A 17: 48,182,201 (GRCm39) V530L unknown Het
Gcnt1 G T 19: 17,306,695 (GRCm39) D343E possibly damaging Het
Gja8 T G 3: 96,827,618 (GRCm39) N15H probably benign Het
Gm128 T C 3: 95,148,243 (GRCm39) E17G probably benign Het
Gnl1 T C 17: 36,293,571 (GRCm39) V252A probably benign Het
Gpld1 G A 13: 25,166,490 (GRCm39) probably null Het
Gpr179 A G 11: 97,242,559 (GRCm39) L95P probably damaging Het
Gtf2a1 A T 12: 91,553,513 (GRCm39) D31E possibly damaging Het
Il12a T A 3: 68,601,517 (GRCm39) Y58* probably null Het
Il1r2 T C 1: 40,144,630 (GRCm39) W106R probably damaging Het
Kif26b A G 1: 178,543,488 (GRCm39) S374G probably benign Het
Mafb A T 2: 160,207,947 (GRCm39) V217E probably damaging Het
Mapk13 T A 17: 28,997,085 (GRCm39) D292E probably damaging Het
Matn2 A G 15: 34,433,209 (GRCm39) D871G probably damaging Het
Mdn1 C A 4: 32,765,701 (GRCm39) T5220K possibly damaging Het
Mfsd6 T C 1: 52,699,978 (GRCm39) I723M probably damaging Het
Mia2 G A 12: 59,154,668 (GRCm39) S127N probably benign Het
Mpeg1 A C 19: 12,440,402 (GRCm39) E620A probably damaging Het
Mrgprb3 A T 7: 48,293,389 (GRCm39) F54Y probably damaging Het
Mtx2 A G 2: 74,699,696 (GRCm39) I156V probably benign Het
Neurog1 T C 13: 56,399,348 (GRCm39) E133G probably damaging Het
Nid2 G A 14: 19,855,982 (GRCm39) D1236N probably damaging Het
Nif3l1 A G 1: 58,491,288 (GRCm39) T213A probably benign Het
Or7e173 A G 9: 19,938,440 (GRCm39) S265P probably damaging Het
Otog A G 7: 45,890,453 (GRCm39) M1V probably null Het
Pde4dip C T 3: 97,631,480 (GRCm39) R1143K probably benign Het
Pgam2 T C 11: 5,753,265 (GRCm39) probably benign Het
Plec T C 15: 76,090,250 (GRCm39) D30G probably damaging Het
Pramel5 C A 4: 143,999,506 (GRCm39) E194* probably null Het
Prss22 T A 17: 24,215,755 (GRCm39) S56C probably damaging Het
Rab23 A G 1: 33,778,406 (GRCm39) N216S probably benign Het
Rasgrf1 A T 9: 89,858,815 (GRCm39) E491V probably damaging Het
Rbbp8 C T 18: 11,810,726 (GRCm39) T76I probably damaging Het
Rtn2 G A 7: 19,020,754 (GRCm39) probably null Het
Sdr39u1 A T 14: 56,137,124 (GRCm39) N62K probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc26a3 T C 12: 31,507,071 (GRCm39) V342A probably damaging Het
Slc49a3 A G 5: 108,592,573 (GRCm39) S234P probably benign Het
Snx30 G T 4: 59,886,515 (GRCm39) C308F probably damaging Het
Timd2 A T 11: 46,569,043 (GRCm39) V205E probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfaip6 G A 2: 51,940,926 (GRCm39) D156N probably benign Het
Uggt2 T A 14: 119,232,461 (GRCm39) E1463D probably damaging Het
Urb2 C A 8: 124,756,878 (GRCm39) P862T probably benign Het
Vmn1r64 A T 7: 5,887,369 (GRCm39) L58* probably null Het
Vmn2r3 C A 3: 64,166,483 (GRCm39) G883C probably benign Het
Vps13d A T 4: 144,837,465 (GRCm39) C2707S possibly damaging Het
Wdr11 G T 7: 129,207,418 (GRCm39) probably null Het
Wdr37 T A 13: 8,911,268 (GRCm39) probably benign Het
Wtap G A 17: 13,194,352 (GRCm39) Q95* probably null Het
Zfp26 A T 9: 20,348,563 (GRCm39) L667H probably damaging Het
Zfp268 C T 4: 145,311,891 (GRCm39) 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
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'- CACGGAACCACCTTGAAGAG -3'
(R):5'- ATGTGATAAGACCGGGGATTGC -3'

Sequencing Primer
(F):5'- GGGGCAGGGACCAATAAACTC -3'
(R):5'- CCTGAAGGAAGATCTAGGGAACTCC -3'
Posted On 2014-10-15