Incidental Mutation 'R7021:D630003M21Rik'
ID 545603
Institutional Source Beutler Lab
Gene Symbol D630003M21Rik
Ensembl Gene ENSMUSG00000037813
Gene Name RIKEN cDNA D630003M21 gene
Synonyms
MMRRC Submission 045122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7021 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158024453-158071142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 158058670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 410 (M410K)
Ref Sequence ENSEMBL: ENSMUSP00000130623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046944] [ENSMUST00000103121] [ENSMUST00000169335]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000046944
AA Change: M410K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: M410K

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 1e-6 BLAST
SCOP:d1aua_2 567 711 5e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1160 1174 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103121
AA Change: M410K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: M410K

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 7e-7 BLAST
SCOP:d1aua_2 567 711 4e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1095 1106 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169335
AA Change: M410K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: M410K

DomainStartEndE-ValueType
low complexity region 321 333 N/A INTRINSIC
low complexity region 422 435 N/A INTRINSIC
low complexity region 517 535 N/A INTRINSIC
Blast:SEC14 567 702 7e-7 BLAST
SCOP:d1aua_2 567 711 4e-9 SMART
Blast:SPEC 712 824 3e-16 BLAST
low complexity region 826 839 N/A INTRINSIC
low complexity region 903 911 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1095 1106 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,442,062 (GRCm39) L63R probably damaging Het
Abcb5 C T 12: 118,895,660 (GRCm39) V379I probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ahsa1 T C 12: 87,318,154 (GRCm39) S37P possibly damaging Het
Arnt2 A T 7: 83,993,150 (GRCm39) L130H probably damaging Het
Atp8b5 T A 4: 43,355,618 (GRCm39) F533I probably damaging Het
Best1 A G 19: 9,964,143 (GRCm39) V439A probably benign Het
Bicc1 A G 10: 70,796,978 (GRCm39) V127A probably damaging Het
Brd7 T C 8: 89,073,632 (GRCm39) T253A probably benign Het
Btd A G 14: 31,389,788 (GRCm39) D503G probably benign Het
Ccdc80 A G 16: 44,924,804 (GRCm39) E646G probably damaging Het
Ccl25 A G 8: 4,399,641 (GRCm39) probably benign Het
Ccnf C A 17: 24,461,205 (GRCm39) W150L probably damaging Het
Cdk11b A T 4: 155,726,024 (GRCm39) probably benign Het
Cfap73 T C 5: 120,768,149 (GRCm39) E203G probably benign Het
Cmya5 T C 13: 93,230,063 (GRCm39) E1675G possibly damaging Het
Copg1 T A 6: 87,871,087 (GRCm39) Y268N possibly damaging Het
Csnk2a1 T A 2: 152,102,732 (GRCm39) H126Q probably damaging Het
Ctbs G A 3: 146,160,703 (GRCm39) G90D probably damaging Het
Ctnna2 T C 6: 77,613,888 (GRCm39) Y221C probably damaging Het
Cypt12 C T 3: 18,002,635 (GRCm39) R3C unknown Het
Dnah9 A T 11: 65,872,057 (GRCm39) N2724K probably benign Het
Dok3 T C 13: 55,672,097 (GRCm39) T194A probably benign Het
Edem3 T G 1: 151,631,423 (GRCm39) S36A probably benign Het
Eed C T 7: 89,629,727 (GRCm39) E3K possibly damaging Het
Efcab2 A G 1: 178,308,925 (GRCm39) I143V probably benign Het
Ensa A T 3: 95,534,359 (GRCm39) probably null Het
Galnt16 A T 12: 80,626,826 (GRCm39) E219V probably damaging Het
Gfra3 C A 18: 34,823,933 (GRCm39) R347L probably benign Het
Gm2042 T A 12: 87,927,009 (GRCm39) I442K probably damaging Het
Gpld1 A T 13: 25,168,691 (GRCm39) D735V probably damaging Het
Hspg2 T C 4: 137,269,580 (GRCm39) S2253P possibly damaging Het
Kit T C 5: 75,781,627 (GRCm39) I352T probably benign Het
Klra6 A T 6: 129,995,821 (GRCm39) V179E possibly damaging Het
Lctl T A 9: 64,040,075 (GRCm39) probably null Het
Lman1 C A 18: 66,124,714 (GRCm39) V342L probably benign Het
Lrrn2 T C 1: 132,866,522 (GRCm39) L529P probably damaging Het
Mab21l2 A G 3: 86,454,793 (GRCm39) I69T probably benign Het
Mapkapk5 G T 5: 121,665,274 (GRCm39) A327E probably benign Het
Mex3b G T 7: 82,519,080 (GRCm39) R465L possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat4c A G 10: 102,224,289 (GRCm39) R168G possibly damaging Het
Mkks A G 2: 136,718,007 (GRCm39) probably null Het
Muc16 G T 9: 18,466,215 (GRCm39) H7368N unknown Het
Muc16 T C 9: 18,462,127 (GRCm39) probably null Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Notch2 T C 3: 98,042,762 (GRCm39) S1376P probably benign Het
Obox5 A G 7: 15,491,681 (GRCm39) probably null Het
Or10j5 T C 1: 172,784,494 (GRCm39) I44T probably benign Het
Or6c8b A T 10: 128,882,899 (GRCm39) I11N probably damaging Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pitrm1 T A 13: 6,628,593 (GRCm39) V962E probably damaging Het
Pkd2l1 T C 19: 44,142,647 (GRCm39) Q465R probably damaging Het
Pla1a A G 16: 38,221,244 (GRCm39) I372T probably damaging Het
Prmt5 A C 14: 54,752,845 (GRCm39) F122C probably damaging Het
Prrc2b T A 2: 32,111,498 (GRCm39) S1905T probably damaging Het
Ptprf T G 4: 118,081,101 (GRCm39) K1163N probably benign Het
Rab3ip A G 10: 116,775,283 (GRCm39) V25A probably damaging Het
Raf1 T C 6: 115,597,300 (GRCm39) probably null Het
Rnf180 T C 13: 105,407,429 (GRCm39) E40G probably benign Het
Rpl6 T A 5: 121,346,972 (GRCm39) M289K probably benign Het
Slc25a32 A G 15: 38,963,321 (GRCm39) F167L probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc4a4 T A 5: 89,188,205 (GRCm39) probably null Het
Sppl2a A G 2: 126,769,663 (GRCm39) probably null Het
Tbr1 T A 2: 61,637,688 (GRCm39) D82E probably benign Het
Tbx10 A T 19: 4,048,961 (GRCm39) T291S probably benign Het
Tlr1 T A 5: 65,083,056 (GRCm39) H507L possibly damaging Het
Trim37 A C 11: 87,058,335 (GRCm39) T338P probably benign Het
Trpv5 T C 6: 41,630,204 (GRCm39) T629A probably benign Het
Ttc14 T A 3: 33,857,646 (GRCm39) I249N probably damaging Het
Uhrf1 A G 17: 56,627,450 (GRCm39) T661A probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vwde T C 6: 13,186,905 (GRCm39) N861D probably damaging Het
Zan A G 5: 137,422,213 (GRCm39) C2802R unknown Het
Other mutations in D630003M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:D630003M21Rik APN 2 158,055,332 (GRCm39) missense possibly damaging 0.92
IGL01447:D630003M21Rik APN 2 158,059,276 (GRCm39) missense probably benign
IGL01501:D630003M21Rik APN 2 158,042,987 (GRCm39) missense probably benign 0.03
IGL01874:D630003M21Rik APN 2 158,046,644 (GRCm39) missense probably damaging 1.00
IGL02116:D630003M21Rik APN 2 158,045,130 (GRCm39) missense possibly damaging 0.76
IGL02212:D630003M21Rik APN 2 158,052,091 (GRCm39) missense probably benign 0.02
IGL02477:D630003M21Rik APN 2 158,059,408 (GRCm39) missense probably benign 0.44
IGL02644:D630003M21Rik APN 2 158,058,730 (GRCm39) missense possibly damaging 0.87
IGL02861:D630003M21Rik APN 2 158,042,918 (GRCm39) missense probably benign 0.03
IGL02896:D630003M21Rik APN 2 158,059,205 (GRCm39) missense probably benign 0.00
IGL03089:D630003M21Rik APN 2 158,058,664 (GRCm39) missense probably benign
IGL03148:D630003M21Rik APN 2 158,059,144 (GRCm39) missense probably damaging 1.00
ANU05:D630003M21Rik UTSW 2 158,038,308 (GRCm39) missense probably benign 0.00
ANU18:D630003M21Rik UTSW 2 158,059,568 (GRCm39) missense probably benign
F5770:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
R0113:D630003M21Rik UTSW 2 158,038,495 (GRCm39) missense possibly damaging 0.92
R0147:D630003M21Rik UTSW 2 158,044,987 (GRCm39) splice site probably benign
R0513:D630003M21Rik UTSW 2 158,042,228 (GRCm39) missense probably benign 0.44
R0637:D630003M21Rik UTSW 2 158,037,327 (GRCm39) intron probably benign
R1594:D630003M21Rik UTSW 2 158,053,550 (GRCm39) missense probably damaging 1.00
R1774:D630003M21Rik UTSW 2 158,062,390 (GRCm39) missense probably damaging 1.00
R1823:D630003M21Rik UTSW 2 158,059,477 (GRCm39) missense probably damaging 1.00
R1864:D630003M21Rik UTSW 2 158,045,105 (GRCm39) missense probably damaging 1.00
R1983:D630003M21Rik UTSW 2 158,050,341 (GRCm39) missense probably benign 0.34
R2042:D630003M21Rik UTSW 2 158,057,769 (GRCm39) missense probably damaging 1.00
R2259:D630003M21Rik UTSW 2 158,046,631 (GRCm39) missense probably damaging 1.00
R2350:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably damaging 0.96
R3157:D630003M21Rik UTSW 2 158,037,392 (GRCm39) intron probably benign
R3937:D630003M21Rik UTSW 2 158,042,280 (GRCm39) missense probably damaging 1.00
R4124:D630003M21Rik UTSW 2 158,038,513 (GRCm39) missense probably damaging 0.97
R4437:D630003M21Rik UTSW 2 158,055,382 (GRCm39) missense probably damaging 1.00
R4473:D630003M21Rik UTSW 2 158,055,382 (GRCm39) missense probably damaging 1.00
R4513:D630003M21Rik UTSW 2 158,046,722 (GRCm39) missense probably benign 0.01
R4514:D630003M21Rik UTSW 2 158,046,722 (GRCm39) missense probably benign 0.01
R4729:D630003M21Rik UTSW 2 158,058,623 (GRCm39) missense probably damaging 1.00
R4794:D630003M21Rik UTSW 2 158,038,059 (GRCm39) missense probably benign
R4947:D630003M21Rik UTSW 2 158,028,116 (GRCm39) missense unknown
R5005:D630003M21Rik UTSW 2 158,053,563 (GRCm39) missense possibly damaging 0.87
R5022:D630003M21Rik UTSW 2 158,059,553 (GRCm39) missense probably damaging 0.99
R5167:D630003M21Rik UTSW 2 158,047,665 (GRCm39) missense probably damaging 1.00
R5191:D630003M21Rik UTSW 2 158,042,955 (GRCm39) missense probably benign 0.06
R5488:D630003M21Rik UTSW 2 158,058,941 (GRCm39) missense probably benign 0.15
R5489:D630003M21Rik UTSW 2 158,058,941 (GRCm39) missense probably benign 0.15
R5495:D630003M21Rik UTSW 2 158,062,431 (GRCm39) missense possibly damaging 0.69
R5708:D630003M21Rik UTSW 2 158,062,312 (GRCm39) splice site probably null
R5770:D630003M21Rik UTSW 2 158,037,500 (GRCm39) intron probably benign
R5789:D630003M21Rik UTSW 2 158,058,734 (GRCm39) missense possibly damaging 0.63
R5817:D630003M21Rik UTSW 2 158,038,413 (GRCm39) missense probably damaging 1.00
R5898:D630003M21Rik UTSW 2 158,046,577 (GRCm39) splice site probably null
R5969:D630003M21Rik UTSW 2 158,059,628 (GRCm39) missense probably damaging 1.00
R6084:D630003M21Rik UTSW 2 158,059,504 (GRCm39) missense probably damaging 0.99
R6111:D630003M21Rik UTSW 2 158,055,368 (GRCm39) missense probably damaging 1.00
R6225:D630003M21Rik UTSW 2 158,059,321 (GRCm39) missense probably benign 0.23
R6307:D630003M21Rik UTSW 2 158,057,871 (GRCm39) missense probably benign 0.34
R6350:D630003M21Rik UTSW 2 158,062,415 (GRCm39) missense probably damaging 1.00
R6548:D630003M21Rik UTSW 2 158,047,619 (GRCm39) critical splice donor site probably null
R6583:D630003M21Rik UTSW 2 158,062,436 (GRCm39) missense probably damaging 0.98
R6821:D630003M21Rik UTSW 2 158,046,694 (GRCm39) missense probably damaging 1.00
R6963:D630003M21Rik UTSW 2 158,042,228 (GRCm39) missense probably benign 0.44
R7210:D630003M21Rik UTSW 2 158,057,932 (GRCm39) critical splice acceptor site probably null
R7345:D630003M21Rik UTSW 2 158,059,129 (GRCm39) missense probably damaging 1.00
R7355:D630003M21Rik UTSW 2 158,042,144 (GRCm39) missense probably damaging 1.00
R7514:D630003M21Rik UTSW 2 158,059,273 (GRCm39) missense probably damaging 1.00
R7587:D630003M21Rik UTSW 2 158,042,976 (GRCm39) missense probably damaging 1.00
R7587:D630003M21Rik UTSW 2 158,038,308 (GRCm39) missense probably benign 0.00
R7713:D630003M21Rik UTSW 2 158,058,698 (GRCm39) nonsense probably null
R7792:D630003M21Rik UTSW 2 158,052,082 (GRCm39) missense possibly damaging 0.94
R7819:D630003M21Rik UTSW 2 158,058,718 (GRCm39) missense probably damaging 0.97
R7832:D630003M21Rik UTSW 2 158,059,588 (GRCm39) missense probably damaging 1.00
R8115:D630003M21Rik UTSW 2 158,058,510 (GRCm39) missense probably benign 0.23
R8482:D630003M21Rik UTSW 2 158,058,852 (GRCm39) missense probably benign 0.01
R8829:D630003M21Rik UTSW 2 158,058,856 (GRCm39) missense probably damaging 0.98
R8928:D630003M21Rik UTSW 2 158,059,447 (GRCm39) missense probably damaging 1.00
R9183:D630003M21Rik UTSW 2 158,059,112 (GRCm39) missense probably benign 0.00
R9254:D630003M21Rik UTSW 2 158,042,883 (GRCm39) missense probably damaging 1.00
R9661:D630003M21Rik UTSW 2 158,047,673 (GRCm39) missense possibly damaging 0.72
V7580:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
V7581:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
V7583:D630003M21Rik UTSW 2 158,042,931 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- TCTTTCAAGAAGGAGAACTGGAGC -3'
(R):5'- ACCTCTGCTTGGAAAGACCC -3'

Sequencing Primer
(F):5'- GGCGTTCTTATTGAGGCA -3'
(R):5'- ACCTCCCTTGGGAAGATGG -3'
Posted On 2019-05-13