Incidental Mutation 'R4794:D630003M21Rik'
ID 368829
Institutional Source Beutler Lab
Gene Symbol D630003M21Rik
Ensembl Gene ENSMUSG00000037813
Gene Name RIKEN cDNA D630003M21 gene
Synonyms
MMRRC Submission 042420-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4794 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158024453-158071142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 158038059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1129 (T1129S)
Ref Sequence ENSEMBL: ENSMUSP00000040546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046944] [ENSMUST00000103121] [ENSMUST00000169335]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046944
AA Change: T1129S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: T1129S

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 probably benign
Transcript: ENSMUST00000103121
SMART Domains Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813

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 noncoding transcript
Transcript: ENSMUST00000109506
Predicted Effect probably benign
Transcript: ENSMUST00000169335
SMART Domains Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,198 (GRCm39) I141K probably damaging Het
Adgrb1 A G 15: 74,459,978 (GRCm39) E537G probably damaging Het
Asic3 C T 5: 24,620,895 (GRCm39) A259V probably damaging Het
Bcar1 G A 8: 112,447,552 (GRCm39) Q142* probably null Het
Bcas3 T C 11: 85,400,294 (GRCm39) V200A probably damaging Het
Cd302 A T 2: 60,102,493 (GRCm39) I42N probably benign Het
Colec12 C A 18: 9,848,984 (GRCm39) N387K probably damaging Het
Copa T A 1: 171,946,888 (GRCm39) I1032N probably damaging Het
D630045J12Rik G A 6: 38,171,420 (GRCm39) T916I possibly damaging Het
Dnajb13 C T 7: 100,153,199 (GRCm39) A241T probably damaging Het
Dyrk4 G T 6: 126,862,300 (GRCm39) N397K possibly damaging Het
Eftud2 T A 11: 102,761,003 (GRCm39) Y114F probably benign Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Epm2a A G 10: 11,266,597 (GRCm39) D114G probably benign Het
Exoc5 T C 14: 49,286,357 (GRCm39) probably null Het
Fam135a G A 1: 24,068,241 (GRCm39) T706I probably benign Het
Fasn A G 11: 120,702,121 (GRCm39) V1845A probably benign Het
Fscn3 A G 6: 28,430,595 (GRCm39) E255G probably damaging Het
Galnt7 A T 8: 57,998,397 (GRCm39) Y311N probably damaging Het
Grid1 T C 14: 34,544,579 (GRCm39) L50P probably damaging Het
Hepacam2 A G 6: 3,475,933 (GRCm39) F331L probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif1a T C 1: 92,953,449 (GRCm39) Y1245C probably damaging Het
Ltbp3 T C 19: 5,806,707 (GRCm39) F1022L probably damaging Het
Med16 G T 10: 79,735,951 (GRCm39) T399N probably damaging Het
Mfsd14a A T 3: 116,439,155 (GRCm39) probably benign Het
Myh7b G A 2: 155,465,186 (GRCm39) V681I probably benign Het
Ndc1 A G 4: 107,247,419 (GRCm39) E409G probably benign Het
Necap2 A G 4: 140,798,912 (GRCm39) probably benign Het
Or2a57 T A 6: 43,212,629 (GRCm39) L29H probably damaging Het
Or4p21 A T 2: 88,276,691 (GRCm39) M197K probably benign Het
Or7g29 C T 9: 19,286,841 (GRCm39) S112N probably benign Het
Parp12 G A 6: 39,094,744 (GRCm39) T117I probably benign Het
Pars2 C A 4: 106,511,407 (GRCm39) C396* probably null Het
Prg4 A T 1: 150,330,297 (GRCm39) probably benign Het
Prkg2 G A 5: 99,114,492 (GRCm39) T523I probably damaging Het
Prph T A 15: 98,955,308 (GRCm39) L425Q probably damaging Het
Ranbp9 A G 13: 43,567,552 (GRCm39) Y549H probably damaging Het
Rbm12 A T 2: 155,937,489 (GRCm39) probably benign Het
Reln T C 5: 22,549,183 (GRCm39) Y75C probably damaging Het
Rock2 G A 12: 16,990,408 (GRCm39) R110H probably damaging Het
Samd1 G A 8: 84,726,346 (GRCm39) E468K probably damaging Het
Samd11 T A 4: 156,333,922 (GRCm39) Q173L probably damaging Het
Scgb2b20 C A 7: 33,065,151 (GRCm39) G37V probably damaging Het
Sf1 C A 19: 6,425,694 (GRCm39) probably benign Het
Slc17a5 T A 9: 78,481,997 (GRCm39) H183L probably damaging Het
Slco1a7 A G 6: 141,713,288 (GRCm39) V31A probably benign Het
Smgc T A 15: 91,725,657 (GRCm39) S13T probably benign Het
Snapin A G 3: 90,398,092 (GRCm39) probably benign Het
Spata31e4 C G 13: 50,857,275 (GRCm39) P971R probably benign Het
Ssc5d C T 7: 4,946,744 (GRCm39) P1033S probably benign Het
Strn3 T C 12: 51,696,954 (GRCm39) E259G probably benign Het
Tbc1d32 A G 10: 56,072,932 (GRCm39) F238L possibly damaging Het
Tbck G A 3: 132,392,729 (GRCm39) V57M possibly damaging Het
Tgm3 A G 2: 129,883,875 (GRCm39) D511G probably benign Het
Tlr5 T C 1: 182,801,461 (GRCm39) V241A probably benign Het
Tmem181c-ps A G 17: 6,887,754 (GRCm39) noncoding transcript Het
Tnfrsf1a G A 6: 125,335,047 (GRCm39) C168Y probably damaging Het
Tph2 G T 10: 115,018,675 (GRCm39) L79I possibly damaging Het
Tsc1 G A 2: 28,551,702 (GRCm39) probably null Het
Ttc14 A T 3: 33,857,298 (GRCm39) M215L probably benign Het
Ube3c A G 5: 29,802,083 (GRCm39) N120S probably benign Het
Ubr2 A T 17: 47,241,371 (GRCm39) W1728R probably damaging Het
Vnn1 A G 10: 23,776,602 (GRCm39) T318A probably benign Het
Washc2 T C 6: 116,235,610 (GRCm39) V941A probably benign Het
Wdfy3 A G 5: 102,091,809 (GRCm39) V510A probably damaging Het
Wdsub1 A T 2: 59,693,188 (GRCm39) V272E possibly damaging Het
Xylt1 A C 7: 117,236,862 (GRCm39) D537A probably benign Het
Zfp57 A G 17: 37,321,022 (GRCm39) N292S possibly damaging 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
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
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'- TCTGTCAATCCTGTCACAGC -3'
(R):5'- TGCCTAGAGAAGTGGGTTCC -3'

Sequencing Primer
(F):5'- TCCAGTTAGAGGGACGCAG -3'
(R):5'- TGCCTAGAGAAGTGGGTTCCAAATG -3'
Posted On 2016-02-04