Incidental Mutation 'IGL02970:BC051019'
ID 365769
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 # IGL02970
Quality Score
Status
Chromosome 7
Chromosomal Location 109311388-109323057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109315262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 331 (N331I)
Ref Sequence ENSEMBL: ENSMUSP00000102346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000145211]
AlphaFold Q9JJR6
Predicted Effect probably benign
Transcript: ENSMUST00000033334
AA Change: N331I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: N331I

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 probably benign
Transcript: ENSMUST00000106735
AA Change: N331I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: N331I

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 probably benign
Transcript: ENSMUST00000145211
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,226,748 (GRCm39) G5S probably damaging Het
A2ml1 A T 6: 128,546,942 (GRCm39) F396I probably damaging Het
Crocc G A 4: 140,757,557 (GRCm39) S912L possibly damaging Het
Dcaf4 A G 12: 83,575,989 (GRCm39) D46G probably damaging Het
Dido1 C T 2: 180,331,208 (GRCm39) R80Q probably damaging Het
Dnase2b A G 3: 146,288,261 (GRCm39) V278A probably damaging Het
Drosha C T 15: 12,914,042 (GRCm39) L1106F probably damaging Het
Dsc3 C A 18: 20,101,317 (GRCm39) W692L probably damaging Het
F2 T A 2: 91,455,896 (GRCm39) Y579F possibly damaging Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gm9772 A G 17: 22,225,540 (GRCm39) F120S probably damaging Het
Gsdma3 T C 11: 98,523,819 (GRCm39) S251P probably benign Het
Hycc2 T C 1: 58,578,776 (GRCm39) E258G probably damaging Het
Itgam G A 7: 127,685,215 (GRCm39) E443K probably benign Het
Kif18a T C 2: 109,118,233 (GRCm39) V16A probably damaging Het
Lrrn3 T G 12: 41,502,359 (GRCm39) S653R probably benign Het
Map1b A T 13: 99,567,242 (GRCm39) Y1826* probably null Het
Mbnl1 T C 3: 60,520,844 (GRCm39) F139S probably damaging Het
Micu3 T C 8: 40,835,171 (GRCm39) Y509H possibly damaging Het
Ncmap T C 4: 135,104,329 (GRCm39) T17A probably damaging Het
Oas1h T A 5: 120,999,698 (GRCm39) M61K possibly damaging Het
Otog T A 7: 45,945,291 (GRCm39) W2183R probably benign Het
Pcdh15 T C 10: 74,126,794 (GRCm39) probably benign Het
Plekho1 C T 3: 95,898,214 (GRCm39) V150I probably damaging Het
Ppargc1b A G 18: 61,431,837 (GRCm39) S1004P probably damaging Het
Prf1 T C 10: 61,135,957 (GRCm39) S78P probably benign Het
Prss12 A G 3: 123,276,411 (GRCm39) S347G probably benign Het
Rai1 T C 11: 60,076,559 (GRCm39) S208P probably damaging Het
Sgms1 A G 19: 32,137,165 (GRCm39) Y134H probably damaging Het
Sult2a4 A G 7: 13,643,831 (GRCm39) probably benign Het
T C T 17: 8,654,217 (GRCm39) A134V probably damaging Het
Thoc5 A G 11: 4,854,201 (GRCm39) T187A probably damaging Het
Ticrr A G 7: 79,344,919 (GRCm39) S1595G probably benign Het
Tiprl A G 1: 165,064,315 (GRCm39) S30P probably damaging Het
Ttl T C 2: 128,917,990 (GRCm39) S151P probably damaging Het
Ttn T A 2: 76,583,334 (GRCm39) T22520S probably damaging Het
Usp54 G A 14: 20,627,540 (GRCm39) S420L probably damaging Het
Vmn1r62 T A 7: 5,678,567 (GRCm39) Y83N possibly damaging Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:BC051019 APN 7 109,319,883 (GRCm39) missense probably benign 0.07
IGL02687:BC051019 APN 7 109,315,559 (GRCm39) missense possibly damaging 0.90
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 2015-12-18