Incidental Mutation 'IGL02822:Matcap1'
ID 361066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matcap1
Ensembl Gene ENSMUSG00000014837
Gene Name microtubule associated tyrosine carboxypeptidase 1
Synonyms MATCAP, 4931428F04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02822
Quality Score
Status
Chromosome 8
Chromosomal Location 106007041-106016160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106011330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
Ref Sequence ENSEMBL: ENSMUSP00000148562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212922]
AlphaFold Q810A5
Predicted Effect probably benign
Transcript: ENSMUST00000014920
SMART Domains Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

DomainStartEndE-ValueType
CARD 4 92 2.1e-27 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 173 209 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000014981
AA Change: Y268C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
AA Change: Y268C

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171788
AA Change: Y268C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
AA Change: Y268C

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212219
AA Change: Y268C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212529
Predicted Effect probably damaging
Transcript: ENSMUST00000212922
AA Change: Y268C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fbxw5 A G 2: 25,393,022 (GRCm39) N164S probably benign Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Ifitm1 T C 7: 140,548,191 (GRCm39) V8A possibly damaging Het
Kdelr1 A G 7: 45,523,288 (GRCm39) probably benign Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Naca C A 10: 127,875,214 (GRCm39) probably benign Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pclaf A G 9: 65,808,875 (GRCm39) E108G possibly damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Matcap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Matcap1 APN 8 106,011,289 (GRCm39) splice site probably benign
IGL02544:Matcap1 APN 8 106,010,092 (GRCm39) missense probably benign 0.44
PIT4403001:Matcap1 UTSW 8 106,011,376 (GRCm39) missense probably benign 0.36
R0357:Matcap1 UTSW 8 106,011,699 (GRCm39) missense probably damaging 1.00
R0507:Matcap1 UTSW 8 106,011,351 (GRCm39) missense probably damaging 1.00
R1759:Matcap1 UTSW 8 106,012,182 (GRCm39) missense probably damaging 0.96
R2874:Matcap1 UTSW 8 106,008,664 (GRCm39) missense possibly damaging 0.95
R3896:Matcap1 UTSW 8 106,009,920 (GRCm39) missense probably benign 0.00
R4960:Matcap1 UTSW 8 106,009,843 (GRCm39) missense probably damaging 1.00
R5341:Matcap1 UTSW 8 106,011,687 (GRCm39) missense probably damaging 1.00
R5834:Matcap1 UTSW 8 106,008,755 (GRCm39) nonsense probably null
R6863:Matcap1 UTSW 8 106,012,435 (GRCm39) missense probably damaging 1.00
R7247:Matcap1 UTSW 8 106,011,331 (GRCm39) missense probably benign 0.05
R8130:Matcap1 UTSW 8 106,012,145 (GRCm39) missense probably benign 0.00
R9258:Matcap1 UTSW 8 106,008,775 (GRCm39) missense probably damaging 0.98
R9579:Matcap1 UTSW 8 106,012,379 (GRCm39) missense probably benign 0.00
R9721:Matcap1 UTSW 8 106,009,820 (GRCm39) missense probably benign 0.16
Posted On 2015-12-18