Incidental Mutation 'R2055:G530012D18Rik'
ID 226562
Institutional Source Beutler Lab
Gene Symbol G530012D18Rik
Ensembl Gene ENSMUSG00000094127
Gene Name RIKEN cDNA G530012D1 gene
Synonyms
MMRRC Submission 040060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R2055 (G1)
Quality Score 107
Status Validated
Chromosome 1
Chromosomal Location 85503397-85505016 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CAGAGAGA to CAGAGAGAGA at 85504945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]
AlphaFold J3QK25
Predicted Effect probably benign
Transcript: ENSMUST00000093508
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034

DomainStartEndE-ValueType
Pfam:Sp100 8 106 2.3e-41 PFAM
low complexity region 242 254 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
SAND 360 433 3.55e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131950
Predicted Effect probably null
Transcript: ENSMUST00000178024
SMART Domains Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127

DomainStartEndE-ValueType
low complexity region 1 10 N/A INTRINSIC
low complexity region 82 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186740
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kcnn3 A G 3: 89,428,682 (GRCm39) T303A probably damaging Het
Kiz C A 2: 146,733,203 (GRCm39) Q460K probably benign Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nckap5 T C 1: 125,954,635 (GRCm39) E639G probably damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Tlr6 C A 5: 65,111,269 (GRCm39) C546F probably damaging Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zc3h7a A T 16: 10,955,340 (GRCm39) N911K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R probably damaging Het
Other mutations in G530012D18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB003:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB005:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB006:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB011:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB013:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB015:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB016:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
FR4340:G530012D18Rik UTSW 1 85,504,873 (GRCm39) small deletion probably benign
FR4449:G530012D18Rik UTSW 1 85,504,901 (GRCm39) small deletion probably benign
FR4737:G530012D18Rik UTSW 1 85,504,899 (GRCm39) frame shift probably null
IGL03050:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
PIT4142001:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R0707:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R0730:G530012D18Rik UTSW 1 85,504,757 (GRCm39) utr 3 prime probably benign
R0819:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1053:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1155:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1236:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1245:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1880:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1961:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2033:G530012D18Rik UTSW 1 85,504,875 (GRCm39) frame shift probably null
R2510:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R2903:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2989:G530012D18Rik UTSW 1 85,504,937 (GRCm39) frame shift probably null
R3000:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3757:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3914:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R4358:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4407:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4417:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5086:G530012D18Rik UTSW 1 85,504,941 (GRCm39) utr 3 prime probably benign
R5389:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7212:G530012D18Rik UTSW 1 85,504,864 (GRCm39) missense unknown
R7823:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7924:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7926:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7927:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7928:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7929:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8162:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8163:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8164:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8263:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8264:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8265:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8491:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8492:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8524:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8742:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8744:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
X0023:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACATCGTGAGCGTGTACCAC -3'
(R):5'- ACAGGTGTTTCCTAAAGGGG -3'

Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- GGGGGAAACATCAATATTCACAAG -3'
Posted On 2014-09-17