Incidental Mutation 'IGL02257:BC003331'
ID286632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC003331
Ensembl Gene ENSMUSG00000006010
Gene NamecDNA sequence BC003331
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.707) question?
Stock #IGL02257
Quality Score
Status
Chromosome1
Chromosomal Location150361305-150393080 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 150386404 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 95 (I95N)
Ref Sequence ENSEMBL: ENSMUSP00000107544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]
Predicted Effect probably damaging
Transcript: ENSMUST00000006167
AA Change: I95N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: I95N

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094477
AA Change: I95N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: I95N

DomainStartEndE-ValueType
Pfam:ODR4-like 28 383 2.8e-120 PFAM
transmembrane domain 424 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097546
AA Change: I95N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: I95N

DomainStartEndE-ValueType
Pfam:ODR4-like 28 364 1.8e-107 PFAM
transmembrane domain 402 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097547
AA Change: I95N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: I95N

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 damaging
Transcript: ENSMUST00000111913
AA Change: I95N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: I95N

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,595,709 Q25* probably null Het
Adam8 A T 7: 139,987,648 V394D possibly damaging Het
Ahnak2 A G 12: 112,785,285 F314S possibly damaging Het
Arsg T C 11: 109,521,647 probably benign Het
Atp13a2 T G 4: 141,006,089 V958G probably benign Het
Ces5a T C 8: 93,525,598 D218G probably benign Het
Cntnap4 T A 8: 112,616,494 L63Q probably damaging Het
Cped1 A G 6: 22,145,607 T655A possibly damaging Het
Ddc A T 11: 11,873,171 L133* probably null Het
Fat4 C T 3: 39,001,139 A4169V probably benign Het
Gnpat T C 8: 124,886,848 probably benign Het
Gpd2 A G 2: 57,364,524 D678G probably benign Het
Hk1 T C 10: 62,271,643 D851G probably benign Het
Hsd11b2 G A 8: 105,523,222 V322I probably benign Het
Hsd17b3 G A 13: 64,059,462 T255M probably benign Het
Hsp90b1 T C 10: 86,698,589 S284G probably damaging Het
Med1 T A 11: 98,180,270 I69L probably damaging Het
Morn3 T G 5: 123,037,725 D200A probably damaging Het
Mtss1 A G 15: 58,956,545 V173A probably damaging Het
Mut C T 17: 40,938,734 T200I possibly damaging Het
Myl6b T C 10: 128,497,341 probably benign Het
Nin A G 12: 70,102,691 V48A possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1490 G A 19: 13,655,265 V279I probably benign Het
Phlpp2 T A 8: 109,920,099 V529E possibly damaging Het
Pnlip G A 19: 58,673,874 V151I probably benign Het
Pus7 A C 5: 23,762,461 H247Q probably damaging Het
Setd6 T C 8: 95,716,692 Y188H probably damaging Het
Siglecg T C 7: 43,411,904 S444P probably benign Het
Sox9 C A 11: 112,784,985 H333Q possibly damaging Het
Specc1 T A 11: 62,118,417 I333N probably damaging Het
Tmprss11e G A 5: 86,724,180 T59I probably damaging Het
Vmn2r93 A C 17: 18,325,508 probably benign Het
Vrk2 A T 11: 26,534,266 V163D probably damaging Het
Other mutations in BC003331
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:BC003331 APN 1 150382338 missense probably benign 0.10
IGL02189:BC003331 APN 1 150372033 missense possibly damaging 0.94
IGL02485:BC003331 APN 1 150363489 critical splice donor site probably null
IGL02585:BC003331 APN 1 150363521 missense probably damaging 0.96
IGL02712:BC003331 APN 1 150386356 critical splice donor site probably null
IGL02902:BC003331 APN 1 150384428 critical splice donor site probably null
IGL03014:BC003331 APN 1 150383053 splice site probably benign
IGL03124:BC003331 APN 1 150386425 missense probably benign 0.00
IGL03181:BC003331 APN 1 150363539 missense probably benign 0.06
IGL03344:BC003331 APN 1 150363544 missense probably damaging 0.99
R1170:BC003331 UTSW 1 150386391 missense probably benign 0.00
R1796:BC003331 UTSW 1 150375554 missense probably benign
R1902:BC003331 UTSW 1 150388609 unclassified probably null
R2149:BC003331 UTSW 1 150388559 missense probably benign 0.05
R2155:BC003331 UTSW 1 150382335 missense possibly damaging 0.68
R2375:BC003331 UTSW 1 150390234 critical splice donor site probably null
R3786:BC003331 UTSW 1 150384531 missense probably benign 0.21
R3948:BC003331 UTSW 1 150388557 nonsense probably null
R4589:BC003331 UTSW 1 150384487 missense probably benign 0.11
R4590:BC003331 UTSW 1 150386352 splice site probably null
R4815:BC003331 UTSW 1 150374846 missense probably damaging 0.99
R5196:BC003331 UTSW 1 150382389 missense probably damaging 1.00
R5437:BC003331 UTSW 1 150363518 missense probably benign 0.01
R5549:BC003331 UTSW 1 150372158 missense possibly damaging 0.86
R5677:BC003331 UTSW 1 150374837 missense probably damaging 1.00
R5896:BC003331 UTSW 1 150380360 missense probably benign 0.10
R6472:BC003331 UTSW 1 150381522 missense probably benign 0.15
R7108:BC003331 UTSW 1 150382290 missense probably benign 0.01
R7402:BC003331 UTSW 1 150386356 critical splice donor site probably null
R7662:BC003331 UTSW 1 150382294 missense probably benign
R7767:BC003331 UTSW 1 150372037 missense probably benign 0.00
R7810:BC003331 UTSW 1 150392908 utr 5 prime probably benign
R8114:BC003331 UTSW 1 150388557 nonsense probably null
Posted On2015-04-16