Incidental Mutation 'IGL00537:Mcpt4'
ID4185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcpt4
Ensembl Gene ENSMUSG00000061068
Gene Namemast cell protease 4
SynonymsMMCP-4B, Mcp4, myonase, Mcp-4, MMCP-4, MMCP-4A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00537
Quality Score
Status
Chromosome14
Chromosomal Location56059629-56062313 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56061030 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 83 (T83A)
Ref Sequence ENSEMBL: ENSMUSP00000038103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043249]
Predicted Effect probably benign
Transcript: ENSMUST00000043249
AA Change: T83A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038103
Gene: ENSMUSG00000061068
AA Change: T83A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 239 6.1e-88 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this locus affects thrombin regulation and fibronectin turnover. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcap29 C A 12: 31,617,096 E189* probably null Het
Chd5 T C 4: 152,360,602 Y347H probably damaging Het
Cyp2c55 T A 19: 39,011,706 N116K possibly damaging Het
Dnah5 T C 15: 28,458,702 probably null Het
Erlec1 C A 11: 30,939,591 V185L probably benign Het
Glb1l3 T A 9: 26,829,050 Y328F probably damaging Het
Gnao1 G A 8: 93,811,680 V50M probably damaging Het
Mefv T C 16: 3,710,960 Y539C probably benign Het
Pkhd1l1 A T 15: 44,591,992 I4050F possibly damaging Het
Pkhd1l1 C T 15: 44,500,047 T621M probably benign Het
Ptprq A G 10: 107,710,522 S304P probably benign Het
Rptor C T 11: 119,799,445 P372L possibly damaging Het
Soat1 A T 1: 156,466,730 N13K probably benign Het
Sspo G A 6: 48,498,213 probably benign Het
Vps13a T A 19: 16,680,045 T1787S probably benign Het
Wfdc12 A T 2: 164,190,467 L18Q probably null Het
Zfp955b T C 17: 33,302,873 F439L probably damaging Het
Zmym4 G A 4: 126,890,058 S1125L probably benign Het
Other mutations in Mcpt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02733:Mcpt4 APN 14 56060667 missense probably benign 0.03
R0622:Mcpt4 UTSW 14 56060662 missense probably benign 0.06
R1699:Mcpt4 UTSW 14 56059959 makesense probably null
R4298:Mcpt4 UTSW 14 56060987 missense possibly damaging 0.70
R4413:Mcpt4 UTSW 14 56060536 missense probably damaging 0.98
R5191:Mcpt4 UTSW 14 56061009 missense probably benign 0.00
R5378:Mcpt4 UTSW 14 56062293 utr 5 prime probably null
R6650:Mcpt4 UTSW 14 56060633 missense possibly damaging 0.82
R7062:Mcpt4 UTSW 14 56060668 missense probably benign 0.09
R7730:Mcpt4 UTSW 14 56059971 missense probably benign
R7809:Mcpt4 UTSW 14 56060684 missense possibly damaging 0.77
X0019:Mcpt4 UTSW 14 56062272 start codon destroyed probably null 0.94
Z1088:Mcpt4 UTSW 14 56060510 nonsense probably null
Posted On2012-04-20