Incidental Mutation 'R4992:4930407I10Rik'
ID 386300
Institutional Source Beutler Lab
Gene Symbol 4930407I10Rik
Ensembl Gene ENSMUSG00000075524
Gene Name RIKEN cDNA 4930407I10 gene
Synonyms LOC328573
MMRRC Submission 042586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4992 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 81943352-81950739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81948203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 700 (R700Q)
Ref Sequence ENSEMBL: ENSMUSP00000097965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100396]
AlphaFold D3Z5T8
Predicted Effect possibly damaging
Transcript: ENSMUST00000100396
AA Change: R700Q

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: R700Q

DomainStartEndE-ValueType
Pfam:DUF4727 25 234 1.1e-109 PFAM
internal_repeat_1 321 406 9.89e-8 PROSPERO
low complexity region 453 465 N/A INTRINSIC
internal_repeat_2 593 707 6.03e-6 PROSPERO
low complexity region 735 752 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
internal_repeat_2 842 958 6.03e-6 PROSPERO
internal_repeat_1 876 962 9.89e-8 PROSPERO
low complexity region 985 996 N/A INTRINSIC
low complexity region 1117 1133 N/A INTRINSIC
low complexity region 1143 1156 N/A INTRINSIC
low complexity region 1199 1208 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1282 1296 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (84/86)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T A 1: 16,151,101 (GRCm39) E27V probably damaging Het
Acsm4 T A 7: 119,310,640 (GRCm39) I509N probably benign Het
Asb18 T C 1: 89,880,585 (GRCm39) M143V probably benign Het
Birc6 A G 17: 74,996,251 (GRCm39) D4475G probably benign Het
Bsn A T 9: 107,992,747 (GRCm39) S1002T probably damaging Het
Bub3 T C 7: 131,162,535 (GRCm39) S33P probably damaging Het
Ccna1 T A 3: 54,957,311 (GRCm39) R35S probably damaging Het
Cdc23 T A 18: 34,779,972 (GRCm39) M119L probably benign Het
Ces1a A G 8: 93,771,650 (GRCm39) V49A probably benign Het
Chi3l1 A T 1: 134,116,364 (GRCm39) E282D probably benign Het
Crocc G A 4: 140,773,977 (GRCm39) A220V probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dennd5a A G 7: 109,493,919 (GRCm39) S1262P probably damaging Het
Dnajb5 G A 4: 42,953,386 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,357,064 (GRCm39) K200R unknown Het
Ect2l A G 10: 18,048,477 (GRCm39) F156S probably benign Het
Egf T C 3: 129,505,179 (GRCm39) probably null Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Elmo3 T A 8: 106,036,133 (GRCm39) Y607* probably null Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Ephb2 A G 4: 136,388,150 (GRCm39) V651A probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gcn1 T C 5: 115,737,225 (GRCm39) V1321A probably benign Het
Gimd1 A T 3: 132,340,718 (GRCm39) Y78F probably benign Het
Glmn T G 5: 107,705,167 (GRCm39) D483A probably damaging Het
Gsr C T 8: 34,183,941 (GRCm39) T401I probably damaging Het
Htr3b G A 9: 48,870,518 (GRCm39) H62Y possibly damaging Het
Ifna6 T C 4: 88,745,777 (GRCm39) V42A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4b A T 8: 82,759,837 (GRCm39) R627S probably damaging Het
Kif13a C T 13: 46,930,639 (GRCm39) V142M probably damaging Het
Lims1 A C 10: 58,246,063 (GRCm39) probably benign Het
Ltn1 T C 16: 87,202,475 (GRCm39) T1059A possibly damaging Het
Lyst T C 13: 13,835,748 (GRCm39) L1810P probably damaging Het
Mboat1 T G 13: 30,386,343 (GRCm39) I119R possibly damaging Het
Mgat3 T A 15: 80,096,743 (GRCm39) D523E probably benign Het
Mphosph9 T C 5: 124,442,253 (GRCm39) E395G probably damaging Het
Mtcl1 G T 17: 66,649,834 (GRCm39) P1877Q probably damaging Het
Myo6 T C 9: 80,190,792 (GRCm39) V781A possibly damaging Het
Ncoa3 T A 2: 165,911,859 (GRCm39) M1395K probably benign Het
Nhlrc2 T A 19: 56,558,966 (GRCm39) D150E probably benign Het
Nlrp9a T C 7: 26,256,811 (GRCm39) V54A probably benign Het
Or1e32 G A 11: 73,705,146 (GRCm39) T254I probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Parp14 A T 16: 35,661,512 (GRCm39) C1479S probably benign Het
Pdcd1lg2 T C 19: 29,423,484 (GRCm39) V176A probably damaging Het
Pibf1 T A 14: 99,388,103 (GRCm39) N416K probably damaging Het
Pip4p1 A G 14: 51,166,690 (GRCm39) V179A probably damaging Het
Polb A T 8: 23,135,087 (GRCm39) V115E probably damaging Het
Polq T A 16: 36,881,524 (GRCm39) N1229K possibly damaging Het
Ppp1r21 A T 17: 88,876,508 (GRCm39) D440V probably benign Het
Ppp2ca T A 11: 52,004,033 (GRCm39) H63Q possibly damaging Het
Prl7a1 C T 13: 27,819,669 (GRCm39) probably null Het
Rgs1 C A 1: 144,122,060 (GRCm39) K77N probably damaging Het
Rnf112 T A 11: 61,343,537 (GRCm39) I100F possibly damaging Het
Rnf139 G T 15: 58,770,325 (GRCm39) E117* probably null Het
Robo1 G A 16: 72,776,756 (GRCm39) V743I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Scarf1 T C 11: 75,413,056 (GRCm39) L434P probably damaging Het
Sgsm1 A T 5: 113,430,486 (GRCm39) S300T possibly damaging Het
Slc26a7 T G 4: 14,565,508 (GRCm39) T192P probably damaging Het
Smarcc2 A G 10: 128,310,579 (GRCm39) K403E probably damaging Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sptlc3 G A 2: 139,437,923 (GRCm39) V406I probably benign Het
Tgds A C 14: 118,355,175 (GRCm39) Y197D probably damaging Het
Tll1 G T 8: 64,546,978 (GRCm39) R323S probably damaging Het
Trim14 A G 4: 46,507,110 (GRCm39) Y369H probably damaging Het
Ube2nl C T 7: 61,199,112 (GRCm39) noncoding transcript Het
Ube3a T A 7: 58,934,568 (GRCm39) D560E possibly damaging Het
Vmn2r10 A G 5: 109,145,592 (GRCm39) V505A possibly damaging Het
Vmn2r114 T G 17: 23,510,765 (GRCm39) I572L probably benign Het
Vmn2r26 A T 6: 124,003,070 (GRCm39) Q160L probably benign Het
Vmn2r75 A C 7: 85,815,375 (GRCm39) probably null Het
Vps8 A G 16: 21,280,158 (GRCm39) K336E possibly damaging Het
Zfp324 T C 7: 12,703,300 (GRCm39) S32P probably benign Het
Zfp366 T C 13: 99,366,003 (GRCm39) I388T possibly damaging Het
Zfp68 A T 5: 138,605,599 (GRCm39) N203K possibly damaging Het
Zhx2 A T 15: 57,686,983 (GRCm39) N784I probably damaging Het
Other mutations in 4930407I10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:4930407I10Rik APN 15 81,950,581 (GRCm39) missense probably benign 0.00
IGL02135:4930407I10Rik APN 15 81,949,205 (GRCm39) missense possibly damaging 0.63
IGL02367:4930407I10Rik APN 15 81,949,748 (GRCm39) missense probably benign 0.00
IGL02626:4930407I10Rik APN 15 81,949,810 (GRCm39) missense probably damaging 0.99
IGL02885:4930407I10Rik APN 15 81,948,152 (GRCm39) missense probably benign 0.36
IGL03199:4930407I10Rik APN 15 81,946,556 (GRCm39) missense possibly damaging 0.65
R0062:4930407I10Rik UTSW 15 81,950,504 (GRCm39) missense probably damaging 0.98
R0062:4930407I10Rik UTSW 15 81,947,267 (GRCm39) missense probably benign 0.00
R0086:4930407I10Rik UTSW 15 81,946,802 (GRCm39) missense probably benign 0.11
R0578:4930407I10Rik UTSW 15 81,943,556 (GRCm39) missense possibly damaging 0.49
R1130:4930407I10Rik UTSW 15 81,943,561 (GRCm39) missense probably benign
R1218:4930407I10Rik UTSW 15 81,948,353 (GRCm39) missense probably benign 0.04
R1942:4930407I10Rik UTSW 15 81,949,625 (GRCm39) missense probably damaging 0.98
R2380:4930407I10Rik UTSW 15 81,949,036 (GRCm39) missense possibly damaging 0.92
R3945:4930407I10Rik UTSW 15 81,949,601 (GRCm39) missense probably damaging 1.00
R4096:4930407I10Rik UTSW 15 81,946,406 (GRCm39) missense probably benign 0.07
R4259:4930407I10Rik UTSW 15 81,947,927 (GRCm39) missense possibly damaging 0.89
R4261:4930407I10Rik UTSW 15 81,947,927 (GRCm39) missense possibly damaging 0.89
R4805:4930407I10Rik UTSW 15 81,950,628 (GRCm39) nonsense probably null
R5094:4930407I10Rik UTSW 15 81,946,883 (GRCm39) missense possibly damaging 0.72
R5161:4930407I10Rik UTSW 15 81,947,542 (GRCm39) nonsense probably null
R5201:4930407I10Rik UTSW 15 81,946,745 (GRCm39) missense probably benign 0.26
R5305:4930407I10Rik UTSW 15 81,943,420 (GRCm39) missense possibly damaging 0.52
R5588:4930407I10Rik UTSW 15 81,949,417 (GRCm39) missense possibly damaging 0.83
R5844:4930407I10Rik UTSW 15 81,950,065 (GRCm39) missense probably benign 0.33
R6007:4930407I10Rik UTSW 15 81,946,940 (GRCm39) missense probably benign 0.13
R6157:4930407I10Rik UTSW 15 81,947,617 (GRCm39) missense possibly damaging 0.67
R6188:4930407I10Rik UTSW 15 81,943,471 (GRCm39) missense probably benign 0.01
R6350:4930407I10Rik UTSW 15 81,947,764 (GRCm39) missense possibly damaging 0.55
R6408:4930407I10Rik UTSW 15 81,949,307 (GRCm39) missense possibly damaging 0.77
R6805:4930407I10Rik UTSW 15 81,946,744 (GRCm39) missense possibly damaging 0.95
R6911:4930407I10Rik UTSW 15 81,948,068 (GRCm39) missense probably benign 0.01
R6962:4930407I10Rik UTSW 15 81,949,150 (GRCm39) missense probably benign 0.14
R7446:4930407I10Rik UTSW 15 81,950,441 (GRCm39) missense probably benign
R7492:4930407I10Rik UTSW 15 81,948,560 (GRCm39) missense possibly damaging 0.63
R7699:4930407I10Rik UTSW 15 81,948,306 (GRCm39) missense probably benign 0.04
R7700:4930407I10Rik UTSW 15 81,948,306 (GRCm39) missense probably benign 0.04
R7963:4930407I10Rik UTSW 15 81,948,137 (GRCm39) missense possibly damaging 0.79
R8215:4930407I10Rik UTSW 15 81,949,301 (GRCm39) missense probably benign 0.01
R8257:4930407I10Rik UTSW 15 81,950,153 (GRCm39) missense probably benign 0.22
R8311:4930407I10Rik UTSW 15 81,947,440 (GRCm39) missense possibly damaging 0.77
R8436:4930407I10Rik UTSW 15 81,949,936 (GRCm39) missense possibly damaging 0.48
R8530:4930407I10Rik UTSW 15 81,949,587 (GRCm39) missense probably damaging 0.99
R8531:4930407I10Rik UTSW 15 81,950,622 (GRCm39) missense probably benign 0.02
R8886:4930407I10Rik UTSW 15 81,950,051 (GRCm39) missense probably damaging 0.99
R9109:4930407I10Rik UTSW 15 81,947,615 (GRCm39) missense probably benign 0.00
R9298:4930407I10Rik UTSW 15 81,947,615 (GRCm39) missense probably benign 0.00
R9424:4930407I10Rik UTSW 15 81,947,843 (GRCm39) missense probably benign 0.00
R9576:4930407I10Rik UTSW 15 81,947,843 (GRCm39) missense probably benign 0.00
R9654:4930407I10Rik UTSW 15 81,948,916 (GRCm39) missense possibly damaging 0.95
R9696:4930407I10Rik UTSW 15 81,949,697 (GRCm39) missense probably benign
R9710:4930407I10Rik UTSW 15 81,946,852 (GRCm39) missense probably benign
RF004:4930407I10Rik UTSW 15 81,943,550 (GRCm39) missense possibly damaging 0.82
X0011:4930407I10Rik UTSW 15 81,943,486 (GRCm39) missense probably damaging 1.00
X0026:4930407I10Rik UTSW 15 81,947,512 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGTACCGAGCCAGGATGAG -3'
(R):5'- AACGGGCTCTGGCTTTCTTC -3'

Sequencing Primer
(F):5'- TACCGAGCCAGGATGAGGAAAAG -3'
(R):5'- ACGGCTGCCTTGGTCTCTG -3'
Posted On 2016-05-10