Incidental Mutation 'IGL02627:Mbip'
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ID301145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbip
Ensembl Gene ENSMUSG00000021028
Gene NameMAP3K12 binding inhibitory protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.903) question?
Stock #IGL02627
Quality Score
Status
Chromosome12
Chromosomal Location56328303-56345894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56335805 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 292 (Q292R)
Ref Sequence ENSEMBL: ENSMUSP00000021416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021416] [ENSMUST00000218118]
Predicted Effect probably benign
Transcript: ENSMUST00000021416
AA Change: Q292R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028
AA Change: Q292R

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 60 75 N/A INTRINSIC
coiled coil region 311 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218321
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in Mbip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Mbip APN 12 56330242 missense probably benign 0.35
IGL03244:Mbip APN 12 56337762 critical splice donor site probably null
IGL03387:Mbip APN 12 56335812 missense probably damaging 1.00
R0891:Mbip UTSW 12 56340457 missense possibly damaging 0.93
R3119:Mbip UTSW 12 56345703 missense probably benign 0.00
R5254:Mbip UTSW 12 56337443 missense probably damaging 0.99
R5584:Mbip UTSW 12 56335862 missense probably damaging 1.00
R5853:Mbip UTSW 12 56335877 missense probably damaging 1.00
R6642:Mbip UTSW 12 56342406 intron probably benign
R6808:Mbip UTSW 12 56337598 splice site probably null
R7231:Mbip UTSW 12 56337762 critical splice donor site probably null
R7716:Mbip UTSW 12 56345688 missense probably benign 0.00
Z1176:Mbip UTSW 12 56340385 missense probably damaging 0.98
Posted On2015-04-16