Incidental Mutation 'R6445:BC061237'
ID 519170
Institutional Source Beutler Lab
Gene Symbol BC061237
Ensembl Gene ENSMUSG00000072145
Gene Name cDNA sequence BC061237
Synonyms
MMRRC Submission 044388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 44737579-44743802 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44738731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 43 (D43E)
Ref Sequence ENSEMBL: ENSMUSP00000094662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096899]
AlphaFold Q6P8I2
Predicted Effect probably benign
Transcript: ENSMUST00000096899
AA Change: D43E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000094662
Gene: ENSMUSG00000072145
AA Change: D43E

DomainStartEndE-ValueType
Pfam:Takusan 10 88 1.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227180
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh22 T C 2: 165,012,612 (GRCm39) I158V probably damaging Het
Cntrl A G 2: 35,052,860 (GRCm39) I1676V probably benign Het
Crem T C 18: 3,309,671 (GRCm39) Y18C probably benign Het
Cyp2b9 A G 7: 25,886,412 (GRCm39) I146V probably benign Het
Efcab14 C A 4: 115,613,668 (GRCm39) H205Q possibly damaging Het
Efcab6 T C 15: 83,752,558 (GRCm39) Y1437C probably damaging Het
Gm3055 T A 10: 81,945,506 (GRCm39) N375K possibly damaging Het
Gm36864 A T 7: 43,886,842 (GRCm39) Q245L possibly damaging Het
Gna11 A T 10: 81,369,167 (GRCm39) I132N probably damaging Het
Ikzf4 C A 10: 128,472,424 (GRCm39) probably null Het
Il9r C T 11: 32,141,000 (GRCm39) G346D possibly damaging Het
Krt71 C T 15: 101,648,775 (GRCm39) R190Q probably benign Het
Mfsd8 T C 3: 40,791,553 (GRCm39) I54V probably damaging Het
Nktr G T 9: 121,577,480 (GRCm39) probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or5ac17 A T 16: 59,036,472 (GRCm39) F168Y probably damaging Het
Peli2 T C 14: 48,493,905 (GRCm39) S376P possibly damaging Het
Pik3r2 C T 8: 71,224,670 (GRCm39) A202T probably benign Het
Pms1 A T 1: 53,231,353 (GRCm39) I832K possibly damaging Het
Reln T C 5: 22,124,212 (GRCm39) K2765E probably benign Het
Rp1 A T 1: 4,296,840 (GRCm39) N744K unknown Het
Smcr8 T C 11: 60,669,841 (GRCm39) Y330H possibly damaging Het
Sned1 A T 1: 93,211,318 (GRCm39) R281S possibly damaging Het
Synm A G 7: 67,383,393 (GRCm39) V1423A probably benign Het
Syt10 G A 15: 89,698,471 (GRCm39) T291I probably damaging Het
Ttn T C 2: 76,744,880 (GRCm39) probably benign Het
Wdr3 T C 3: 100,063,719 (GRCm39) T186A possibly damaging Het
Zfp451 A C 1: 33,812,092 (GRCm39) D874E probably damaging Het
Other mutations in BC061237
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01910:BC061237 APN 14 44,743,445 (GRCm39) splice site probably benign
IGL02931:BC061237 APN 14 44,740,779 (GRCm39) missense possibly damaging 0.95
R1371:BC061237 UTSW 14 44,741,762 (GRCm39) splice site probably benign
R1927:BC061237 UTSW 14 44,738,700 (GRCm39) missense possibly damaging 0.84
R2884:BC061237 UTSW 14 44,738,627 (GRCm39) missense possibly damaging 0.93
R3892:BC061237 UTSW 14 44,738,730 (GRCm39) missense probably benign
R4749:BC061237 UTSW 14 44,743,469 (GRCm39) missense probably damaging 0.98
R4884:BC061237 UTSW 14 44,738,666 (GRCm39) missense possibly damaging 0.95
R5866:BC061237 UTSW 14 44,738,730 (GRCm39) missense possibly damaging 0.56
R6381:BC061237 UTSW 14 44,741,713 (GRCm39) missense possibly damaging 0.72
R6714:BC061237 UTSW 14 44,741,639 (GRCm39) missense possibly damaging 0.93
R8886:BC061237 UTSW 14 44,741,691 (GRCm39) missense probably benign 0.00
R8943:BC061237 UTSW 14 44,741,658 (GRCm39) missense probably benign 0.01
R9124:BC061237 UTSW 14 44,740,851 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTCAGGGATTCACAGTGTCTC -3'
(R):5'- CAATCAGGCAGCAGAGTTTGG -3'

Sequencing Primer
(F):5'- TGACAATGCATGGTTTCTGC -3'
(R):5'- CAGCAGAGTTTGGATATGTGGACATC -3'
Posted On 2018-05-24