Incidental Mutation 'IGL03124:BC003331'
ID 410095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC003331
Ensembl Gene ENSMUSG00000006010
Gene Name cDNA sequence BC003331
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.749) question?
Stock # IGL03124
Quality Score
Status
Chromosome 1
Chromosomal Location 150361305-150393080 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150386425 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000107544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]
AlphaFold Q4PJX1
Predicted Effect probably benign
Transcript: ENSMUST00000006167
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: V88A

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094477
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: V88A

DomainStartEndE-ValueType
Pfam:ODR4-like 28 383 2.8e-120 PFAM
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097546
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: V88A

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097547
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: V88A

DomainStartEndE-ValueType
Pfam:ODR4-like 28 209 1.2e-57 PFAM
Pfam:ODR4-like 206 354 3.1e-43 PFAM
transmembrane domain 392 414 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111913
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: V88A

DomainStartEndE-ValueType
Pfam:ODR4-like 28 386 7.1e-113 PFAM
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150615
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,507,287 (GRCm38) N170D possibly damaging Het
1700018B08Rik C A 8: 121,541,710 (GRCm38) probably benign Het
4931414P19Rik A G 14: 54,595,139 (GRCm38) V193A probably benign Het
Acap3 T C 4: 155,905,033 (GRCm38) S645P probably benign Het
Alms1 A G 6: 85,678,419 (GRCm38) I3316V probably benign Het
Apc T G 18: 34,299,985 (GRCm38) H424Q probably damaging Het
Camsap2 A T 1: 136,274,799 (GRCm38) probably null Het
Car13 C T 3: 14,656,940 (GRCm38) P182L possibly damaging Het
Ccdc87 T G 19: 4,841,054 (GRCm38) S525A probably damaging Het
Ces1f T C 8: 93,275,384 (GRCm38) N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 (GRCm38) A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 (GRCm38) probably null Het
Fam208b A T 13: 3,574,704 (GRCm38) Y1749N probably benign Het
Fat4 C A 3: 38,981,552 (GRCm38) R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 (GRCm38) V171M probably damaging Het
Hivep1 G T 13: 42,158,904 (GRCm38) G1540V possibly damaging Het
Ighm T C 12: 113,421,638 (GRCm38) D234G unknown Het
Igsf10 T C 3: 59,319,665 (GRCm38) T2196A probably benign Het
Kctd19 T A 8: 105,387,070 (GRCm38) Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 (GRCm38) I512N probably damaging Het
Lima1 A T 15: 99,796,734 (GRCm38) probably benign Het
Map2k4 A C 11: 65,690,791 (GRCm38) I365S probably damaging Het
Mast4 T A 13: 102,738,245 (GRCm38) K1346N probably damaging Het
Met T A 6: 17,492,078 (GRCm38) F280I probably benign Het
Ncapg A G 5: 45,671,209 (GRCm38) T101A probably benign Het
Nup214 T C 2: 31,996,440 (GRCm38) F605L probably benign Het
Olfr291 T A 7: 84,856,723 (GRCm38) M118K probably damaging Het
Olfr639 G T 7: 104,011,794 (GRCm38) Q303K probably benign Het
Olfr873 T A 9: 20,301,163 (GRCm38) M322K probably benign Het
Pck2 C T 14: 55,545,333 (GRCm38) T373I probably damaging Het
Pcna C T 2: 132,251,753 (GRCm38) E109K probably benign Het
Pecr A C 1: 72,277,340 (GRCm38) S69A probably benign Het
Pitpnb A G 5: 111,330,830 (GRCm38) E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 (GRCm38) T436I probably benign Het
Plbd2 A T 5: 120,493,077 (GRCm38) F212I possibly damaging Het
Rfk T A 19: 17,398,595 (GRCm38) H84Q possibly damaging Het
Scp2 T A 4: 108,063,906 (GRCm38) I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 (GRCm38) T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 (GRCm38) A35V probably benign Het
Tmem8 G A 17: 26,116,834 (GRCm38) R65Q probably damaging Het
Trav17 T C 14: 53,806,649 (GRCm38) V4A probably benign Het
Vmn1r57 A T 7: 5,221,022 (GRCm38) H182L possibly damaging Het
Vwa8 A T 14: 79,058,815 (GRCm38) probably benign Het
Zgpat A G 2: 181,366,180 (GRCm38) Y170C probably benign Het
Other mutations in BC003331
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:BC003331 APN 1 150,382,338 (GRCm38) missense probably benign 0.10
IGL02189:BC003331 APN 1 150,372,033 (GRCm38) missense possibly damaging 0.94
IGL02257:BC003331 APN 1 150,386,404 (GRCm38) missense probably damaging 0.99
IGL02485:BC003331 APN 1 150,363,489 (GRCm38) critical splice donor site probably null
IGL02585:BC003331 APN 1 150,363,521 (GRCm38) missense probably damaging 0.96
IGL02712:BC003331 APN 1 150,386,356 (GRCm38) critical splice donor site probably null
IGL02902:BC003331 APN 1 150,384,428 (GRCm38) critical splice donor site probably null
IGL03014:BC003331 APN 1 150,383,053 (GRCm38) splice site probably benign
IGL03181:BC003331 APN 1 150,363,539 (GRCm38) missense probably benign 0.06
IGL03344:BC003331 APN 1 150,363,544 (GRCm38) missense probably damaging 0.99
R1170:BC003331 UTSW 1 150,386,391 (GRCm38) missense probably benign 0.00
R1796:BC003331 UTSW 1 150,375,554 (GRCm38) missense probably benign
R1902:BC003331 UTSW 1 150,388,609 (GRCm38) splice site probably null
R2149:BC003331 UTSW 1 150,388,559 (GRCm38) missense probably benign 0.05
R2155:BC003331 UTSW 1 150,382,335 (GRCm38) missense possibly damaging 0.68
R2375:BC003331 UTSW 1 150,390,234 (GRCm38) critical splice donor site probably null
R3786:BC003331 UTSW 1 150,384,531 (GRCm38) missense probably benign 0.21
R3948:BC003331 UTSW 1 150,388,557 (GRCm38) nonsense probably null
R4589:BC003331 UTSW 1 150,384,487 (GRCm38) missense probably benign 0.11
R4590:BC003331 UTSW 1 150,386,352 (GRCm38) splice site probably null
R4815:BC003331 UTSW 1 150,374,846 (GRCm38) missense probably damaging 0.99
R5196:BC003331 UTSW 1 150,382,389 (GRCm38) missense probably damaging 1.00
R5437:BC003331 UTSW 1 150,363,518 (GRCm38) missense probably benign 0.01
R5549:BC003331 UTSW 1 150,372,158 (GRCm38) missense possibly damaging 0.86
R5677:BC003331 UTSW 1 150,374,837 (GRCm38) missense probably damaging 1.00
R5896:BC003331 UTSW 1 150,380,360 (GRCm38) missense probably benign 0.10
R6472:BC003331 UTSW 1 150,381,522 (GRCm38) missense probably benign 0.15
R7108:BC003331 UTSW 1 150,382,290 (GRCm38) missense probably benign 0.01
R7402:BC003331 UTSW 1 150,386,356 (GRCm38) critical splice donor site probably null
R7662:BC003331 UTSW 1 150,382,294 (GRCm38) missense probably benign
R7767:BC003331 UTSW 1 150,372,037 (GRCm38) missense probably benign 0.00
R7810:BC003331 UTSW 1 150,392,908 (GRCm38) utr 5 prime probably benign
R7916:BC003331 UTSW 1 150,384,498 (GRCm38) missense probably benign 0.01
R8114:BC003331 UTSW 1 150,388,557 (GRCm38) nonsense probably null
R8120:BC003331 UTSW 1 150,384,426 (GRCm38) splice site probably null
R8435:BC003331 UTSW 1 150,382,269 (GRCm38) missense possibly damaging 0.90
R9397:BC003331 UTSW 1 150,362,865 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02