Incidental Mutation 'R5789:D630003M21Rik'
ID 448192
Institutional Source Beutler Lab
Gene Symbol D630003M21Rik
Ensembl Gene ENSMUSG00000037813
Gene Name RIKEN cDNA D630003M21 gene
Synonyms
MMRRC Submission 043383-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5789 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158024453-158071142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 158058734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 389 (E389K)
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: E389K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: E389K

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: E389K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: E389K

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: E389K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: E389K

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,076,108 (GRCm39) F1200S probably damaging Het
Ahnak A T 19: 8,979,685 (GRCm39) D323V probably benign Het
Aloxe3 T C 11: 69,017,265 (GRCm39) Y13H probably damaging Het
Aqp1 A G 6: 55,313,746 (GRCm39) I91V probably benign Het
C9orf72 T A 4: 35,226,112 (GRCm39) probably benign Het
Carmil1 A G 13: 24,305,831 (GRCm39) S318P probably damaging Het
Cdan1 A G 2: 120,560,016 (GRCm39) F383L probably benign Het
Ciao3 T C 17: 26,000,177 (GRCm39) C303R probably benign Het
Col6a2 T A 10: 76,440,223 (GRCm39) E606V probably damaging Het
Col6a5 T C 9: 105,741,807 (GRCm39) T2371A possibly damaging Het
Cops3 T C 11: 59,721,106 (GRCm39) probably benign Het
Coq7 G T 7: 118,128,929 (GRCm39) H35Q possibly damaging Het
Cp T A 3: 20,011,454 (GRCm39) F3I probably benign Het
Dclre1c A T 2: 3,438,993 (GRCm39) Q51L probably damaging Het
Dhx37 A C 5: 125,498,103 (GRCm39) I702S possibly damaging Het
Dnah3 G T 7: 119,542,822 (GRCm39) A3530D possibly damaging Het
Dnajc13 T C 9: 104,091,387 (GRCm39) R635G probably damaging Het
Dnhd1 A G 7: 105,354,217 (GRCm39) S3066G possibly damaging Het
Doc2b T A 11: 75,676,941 (GRCm39) H144L probably damaging Het
Eif2b3 T A 4: 116,885,692 (GRCm39) I78N probably damaging Het
Enpp1 A T 10: 24,523,137 (GRCm39) H767Q probably benign Het
Fam180a C A 6: 35,290,461 (GRCm39) *174L probably null Het
Gabra1 A T 11: 42,073,742 (GRCm39) probably benign Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm16551 T A 9: 74,756,535 (GRCm39) noncoding transcript Het
Ifi213 C A 1: 173,396,360 (GRCm39) probably benign Het
Inpp4a T C 1: 37,411,410 (GRCm39) V358A possibly damaging Het
Kmt2a T C 9: 44,731,201 (GRCm39) probably benign Het
Mrgprb13 A T 7: 47,961,946 (GRCm39) noncoding transcript Het
Mtrex A T 13: 113,027,819 (GRCm39) N680K probably benign Het
Nckap5 A G 1: 125,955,439 (GRCm39) F371S probably damaging Het
Nudcd1 G A 15: 44,251,879 (GRCm39) Q428* probably null Het
Pcdhgc5 C A 18: 37,954,559 (GRCm39) P611Q probably damaging Het
Plekhb1 A T 7: 100,294,793 (GRCm39) Y193* probably null Het
Prrt1 T C 17: 34,850,931 (GRCm39) probably null Het
Ptpn12 G A 5: 21,194,013 (GRCm39) T753I possibly damaging Het
Samsn1 T C 16: 75,673,336 (GRCm39) D180G probably damaging Het
Sh2d2a T A 3: 87,756,820 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,045,091 (GRCm39) probably null Het
Socs3 T A 11: 117,858,608 (GRCm39) Q150L probably benign Het
Supt6 A G 11: 78,124,412 (GRCm39) V23A unknown Het
Tcf12 T C 9: 71,792,518 (GRCm39) Y119C probably damaging Het
Them5 A G 3: 94,253,908 (GRCm39) E210G probably damaging Het
Tmem135 A G 7: 88,845,330 (GRCm39) F167S possibly damaging Het
Tmem170 A G 8: 112,593,032 (GRCm39) V134A possibly damaging Het
Trbv20 A G 6: 41,165,725 (GRCm39) Y50C probably damaging Het
Uroc1 A G 6: 90,321,179 (GRCm39) M252V probably damaging Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Xpnpep3 T A 15: 81,300,065 (GRCm39) probably benign Het
Yars1 C T 4: 129,090,690 (GRCm39) T78M probably damaging Het
Zdhhc16 T A 19: 41,926,572 (GRCm39) H98Q probably damaging Het
Zfp90 T C 8: 107,150,605 (GRCm39) L106P probably benign Het
Zscan22 T G 7: 12,637,853 (GRCm39) S82A probably benign 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
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
R7021:D630003M21Rik UTSW 2 158,058,670 (GRCm39) missense possibly damaging 0.59
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'- CTTGGAAGCTCTCCCATGTC -3'
(R):5'- GAAAGACCCTTCCTCTCTCG -3'

Sequencing Primer
(F):5'- GGAAGCTCTCCCATGTCCTAGTG -3'
(R):5'- GGCACCTCCCTTGGGAAGATG -3'
Posted On 2016-12-15