Incidental Mutation 'IGL02687:BC051019'
ID 303617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC051019
Ensembl Gene ENSMUSG00000031022
Gene Name cDNA sequence BC051019
Synonyms D7H11orf16, ICRFP703N2430Q5.5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02687
Quality Score
Status
Chromosome 7
Chromosomal Location 109311388-109323057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109315559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000115006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000145211]
AlphaFold Q9JJR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000033334
AA Change: D232G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: D232G

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 1.1e-41 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033335
Predicted Effect possibly damaging
Transcript: ENSMUST00000106735
AA Change: D232G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: D232G

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 6.3e-44 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145211
AA Change: D84G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022
AA Change: D84G

DomainStartEndE-ValueType
Pfam:DUF4537 24 77 8.3e-12 PFAM
low complexity region 110 136 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147497
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,005,058 (GRCm39) V1315A probably damaging Het
Adam2 A T 14: 66,306,639 (GRCm39) C117S probably damaging Het
Arpp21 T A 9: 111,894,883 (GRCm39) R792* probably null Het
Atp13a3 A G 16: 30,156,369 (GRCm39) M938T probably damaging Het
Atp6v0a2 C T 5: 124,791,206 (GRCm39) T545M possibly damaging Het
Bdkrb1 T A 12: 105,571,091 (GRCm39) L219H probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap46 T C 7: 139,187,117 (GRCm39) D2415G probably damaging Het
Csgalnact2 T C 6: 118,101,376 (GRCm39) probably null Het
Cyp4a29 T C 4: 115,108,397 (GRCm39) C374R probably damaging Het
Dgkb C A 12: 38,680,628 (GRCm39) P776Q possibly damaging Het
Duox1 A T 2: 122,166,896 (GRCm39) K1005M probably damaging Het
Dusp6 C A 10: 99,102,044 (GRCm39) F343L probably damaging Het
Espl1 C T 15: 102,221,613 (GRCm39) probably benign Het
Filip1l T C 16: 57,391,490 (GRCm39) S455P probably benign Het
Gm7995 A G 14: 42,133,362 (GRCm39) I81V probably damaging Het
Lingo4 T C 3: 94,309,404 (GRCm39) L114P probably damaging Het
Mfsd6 A G 1: 52,747,834 (GRCm39) S344P probably damaging Het
Mpc1 G A 17: 8,515,975 (GRCm39) S162N probably benign Het
Myh11 T A 16: 14,030,482 (GRCm39) K1143* probably null Het
Nek10 T C 14: 14,840,570 (GRCm38) L152P probably damaging Het
Or52ab7 C T 7: 102,978,607 (GRCm39) R305* probably null Het
Or5ak25 T A 2: 85,268,930 (GRCm39) N191Y possibly damaging Het
Or6c217 T C 10: 129,737,971 (GRCm39) M203V probably benign Het
Rab11a A G 9: 64,633,980 (GRCm39) I119T probably damaging Het
Spata31d1d T A 13: 59,875,678 (GRCm39) H619L possibly damaging Het
Ulk4 A T 9: 121,021,728 (GRCm39) V661E possibly damaging Het
Vmn1r199 T C 13: 22,566,961 (GRCm39) V85A possibly damaging Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:BC051019 APN 7 109,319,883 (GRCm39) missense probably benign 0.07
IGL02970:BC051019 APN 7 109,315,262 (GRCm39) missense probably benign 0.03
R0494:BC051019 UTSW 7 109,317,182 (GRCm39) missense probably benign 0.29
R0755:BC051019 UTSW 7 109,315,302 (GRCm39) nonsense probably null
R1619:BC051019 UTSW 7 109,317,269 (GRCm39) missense probably damaging 1.00
R1768:BC051019 UTSW 7 109,322,381 (GRCm39) missense probably benign 0.04
R2001:BC051019 UTSW 7 109,319,758 (GRCm39) nonsense probably null
R4059:BC051019 UTSW 7 109,317,202 (GRCm39) nonsense probably null
R4790:BC051019 UTSW 7 109,315,553 (GRCm39) missense probably benign 0.01
R5091:BC051019 UTSW 7 109,319,789 (GRCm39) missense probably null 1.00
R7129:BC051019 UTSW 7 109,319,825 (GRCm39) missense
R7507:BC051019 UTSW 7 109,315,475 (GRCm39) missense possibly damaging 0.88
R7743:BC051019 UTSW 7 109,315,266 (GRCm39) missense probably damaging 0.98
R8929:BC051019 UTSW 7 109,315,233 (GRCm39) missense probably damaging 0.97
R8931:BC051019 UTSW 7 109,315,286 (GRCm39) missense probably damaging 1.00
R9497:BC051019 UTSW 7 109,315,466 (GRCm39) missense probably damaging 1.00
Z1177:BC051019 UTSW 7 109,319,847 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16