Incidental Mutation 'R7771:D030056L22Rik'
ID598610
Institutional Source Beutler Lab
Gene Symbol D030056L22Rik
Ensembl Gene ENSMUSG00000047044
Gene NameRIKEN cDNA D030056L22 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #R7771 (G1)
Quality Score136.008
Status Not validated
Chromosome19
Chromosomal Location18713193-18718428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18713478 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
Ref Sequence ENSEMBL: ENSMUSP00000108465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055792] [ENSMUST00000062753]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055792
AA Change: E52G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061933
Gene: ENSMUSG00000047044
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
Pfam:AF1Q 100 162 1.8e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062753
AA Change: E52G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108465
Gene: ENSMUSG00000047044
AA Change: E52G

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
Pfam:AF1Q 101 163 1.2e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,239,191 A1287T probably damaging Het
Ahnak A G 19: 9,015,047 K4565R probably damaging Het
Asb13 A G 13: 3,649,463 Y221C probably damaging Het
BB014433 C T 8: 15,042,395 V153M probably damaging Het
Brip1 T C 11: 86,062,024 E977G probably benign Het
C3 T A 17: 57,215,797 D1029V probably damaging Het
Ccdc116 T C 16: 17,139,591 E568G probably benign Het
Cdhr2 T C 13: 54,718,275 V296A probably damaging Het
Cnot1 A G 8: 95,765,125 V357A probably damaging Het
Coa3 A T 11: 101,278,815 M38K possibly damaging Het
Cyp2d26 T C 15: 82,791,746 N255S probably benign Het
Cysrt1 T C 2: 25,239,225 S92G probably benign Het
Derl1 T C 15: 57,880,040 D97G probably damaging Het
Ebf3 A G 7: 137,309,363 Y141H probably damaging Het
Eci1 T A 17: 24,433,151 L49* probably null Het
Fam208a A G 14: 27,467,559 T923A probably damaging Het
Gm7534 A T 4: 134,195,443 N526K probably benign Het
Gzma C T 13: 113,098,295 C54Y probably damaging Het
Hydin A G 8: 110,565,085 N3403S probably damaging Het
Ide T C 19: 37,298,126 N495D Het
Ighv1-23 T A 12: 114,764,736 Q22L probably benign Het
Itgb2l A G 16: 96,426,972 C444R probably damaging Het
Kcnj3 C A 2: 55,446,937 H272N probably damaging Het
Lrp6 C T 6: 134,462,616 C1218Y probably damaging Het
Lrrd1 T C 5: 3,866,476 M831T possibly damaging Het
Map3k11 A G 19: 5,690,608 E121G probably damaging Het
Mzt1 A T 14: 99,040,576 I52N probably damaging Het
Olfr339 T C 2: 36,422,144 S249P possibly damaging Het
Olfr617 A G 7: 103,584,090 I23V probably benign Het
Olfr857 T A 9: 19,713,471 F215I probably benign Het
Pcdhb17 A C 18: 37,486,909 Y584S possibly damaging Het
Per3 A T 4: 151,026,200 D380E probably damaging Het
Per3 A T 4: 151,041,445 L139Q probably damaging Het
Pik3cg T C 12: 32,204,014 H658R probably benign Het
Pitpnm3 G A 11: 72,061,488 Q626* probably null Het
Polr3e T C 7: 120,940,578 V542A probably benign Het
Rgs22 T A 15: 36,050,078 H866L possibly damaging Het
Rnf150 A G 8: 82,864,203 E65G probably benign Het
Sema3f C A 9: 107,692,426 R100L possibly damaging Het
Smim18 T C 8: 33,742,342 D83G possibly damaging Het
Snx13 T A 12: 35,124,528 D685E probably benign Het
Stat5a A C 11: 100,863,219 N125T probably benign Het
Stk24 T C 14: 121,337,633 E21G probably damaging Het
Tlr3 C T 8: 45,403,039 V35I probably benign Het
Tmem8 T C 17: 26,122,073 Y717H probably damaging Het
Trpm2 T C 10: 77,932,179 I829V probably benign Het
Ttc37 A G 13: 76,135,030 H792R probably benign Het
Ttc39a T C 4: 109,431,450 Y276H probably damaging Het
Wdr73 G A 7: 80,893,227 A211V probably benign Het
Zc3h4 T C 7: 16,429,899 V673A unknown Het
Zfp382 A G 7: 30,133,335 H137R probably damaging Het
Zp2 T G 7: 120,143,642 D89A probably damaging Het
Zranb3 A C 1: 128,032,868 Y220D probably damaging Het
Zswim8 G A 14: 20,712,980 V316I probably damaging Het
Other mutations in D030056L22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6980:D030056L22Rik UTSW 19 18717265 missense probably damaging 0.98
R7170:D030056L22Rik UTSW 19 18713373 missense possibly damaging 0.53
R7510:D030056L22Rik UTSW 19 18713489 missense possibly damaging 0.70
Z1088:D030056L22Rik UTSW 19 18717315 missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- ATGCGAACAACCGTGCAAG -3'
(R):5'- TAGTGAGTAGCGGACCTACCTG -3'

Sequencing Primer
(F):5'- AGGTTCGAAACTCCGGCG -3'
(R):5'- ACCTACCTGGCTGTGCAC -3'
Posted On2019-11-26