Incidental Mutation 'IGL03092:BC024978'
ID418420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC024978
Ensembl Gene ENSMUSG00000078786
Gene NamecDNA sequence BC024978
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03092
Quality Score
Status
Chromosome7
Chromosomal Location27195781-27210186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27201136 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 180 (M180T)
Ref Sequence ENSEMBL: ENSMUSP00000137189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000179391]
Predicted Effect probably benign
Transcript: ENSMUST00000080356
SMART Domains Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108379
AA Change: M180T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: M180T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116883
Predicted Effect probably benign
Transcript: ENSMUST00000122202
SMART Domains Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479

DomainStartEndE-ValueType
RRM 17 91 2.3e-14 SMART
low complexity region 109 120 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
RRM 214 283 6.31e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123108
Predicted Effect unknown
Transcript: ENSMUST00000155931
AA Change: M143T
SMART Domains Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: M143T

DomainStartEndE-ValueType
low complexity region 14 44 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179391
AA Change: M180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: M180T

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206439
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,406,470 L491P probably damaging Het
5430419D17Rik G T 7: 131,201,798 probably null Het
Abcc6 T A 7: 45,986,470 D1051V probably damaging Het
Aqr T A 2: 114,158,943 E133V probably benign Het
Bag6 A G 17: 35,145,627 N911D probably damaging Het
Ces4a C T 8: 105,148,204 probably benign Het
Clec3b A T 9: 123,151,035 probably benign Het
Cnot1 T C 8: 95,769,615 probably benign Het
Ctsg T A 14: 56,099,960 *262L probably null Het
Cyp17a1 T A 19: 46,672,611 H78L possibly damaging Het
Dcaf13 C A 15: 39,127,976 probably benign Het
Dcun1d1 G T 3: 35,920,992 Q52K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dock1 A G 7: 134,765,216 probably benign Het
Dsel A G 1: 111,860,063 L914P probably damaging Het
Fbxo31 A G 8: 121,560,018 F174L probably benign Het
Gm9116 A G 3: 93,910,206 noncoding transcript Het
Gspt1 C T 16: 11,238,899 V211I probably benign Het
Hmgb1 A T 5: 149,050,698 S14T probably benign Het
Igsf8 A G 1: 172,312,529 probably benign Het
Klf13 A G 7: 63,891,669 F237L probably damaging Het
Mon2 A T 10: 123,018,100 I962N probably damaging Het
Nfx1 A G 4: 41,024,851 D1108G probably damaging Het
Nr2e1 T C 10: 42,571,482 Y178C probably damaging Het
Olfr1426 C A 19: 12,087,866 E309* probably null Het
Olfr646 A T 7: 104,106,647 I123F probably damaging Het
Pde3b A T 7: 114,523,348 H717L probably damaging Het
Polr1b T C 2: 129,123,129 Y712H probably damaging Het
Pramef25 C A 4: 143,950,197 K112N probably damaging Het
Rnf157 T A 11: 116,347,969 probably null Het
Ros1 T C 10: 52,098,806 E1561G probably damaging Het
Serpina6 A G 12: 103,653,895 probably null Het
St18 A G 1: 6,768,894 probably benign Het
Ugp2 A G 11: 21,329,722 probably benign Het
Vmn1r70 T C 7: 10,634,259 S225P probably benign Het
Zfp641 T C 15: 98,290,516 D161G probably damaging Het
Other mutations in BC024978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:BC024978 APN 7 27203873 missense probably damaging 0.97
IGL03184:BC024978 APN 7 27197007 utr 5 prime probably benign
IGL03348:BC024978 APN 7 27197120 unclassified probably null
R0245:BC024978 UTSW 7 27200603 missense possibly damaging 0.92
R0650:BC024978 UTSW 7 27202647 missense probably damaging 1.00
R1522:BC024978 UTSW 7 27202680 missense probably damaging 1.00
R4731:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R4732:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R4733:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R5502:BC024978 UTSW 7 27197117 missense possibly damaging 0.90
R6672:BC024978 UTSW 7 27204064 intron probably benign
R7190:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7191:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7299:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7300:BC024978 UTSW 7 27201123 missense probably damaging 1.00
X0003:BC024978 UTSW 7 27202491 missense probably benign 0.07
X0024:BC024978 UTSW 7 27201091 missense probably damaging 1.00
Posted On2016-08-02