Incidental Mutation 'R2874:Matcap1'
ID 260467
Institutional Source Beutler Lab
Gene Symbol Matcap1
Ensembl Gene ENSMUSG00000014837
Gene Name microtubule associated tyrosine carboxypeptidase 1
Synonyms MATCAP, 4931428F04Rik
MMRRC Submission 040462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2874 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106007041-106016160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106008664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 451 (M451T)
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 possibly damaging
Transcript: ENSMUST00000014981
AA Change: M451T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
AA Change: M451T

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171788
AA Change: M451T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
AA Change: M451T

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000212219
AA Change: M451T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212922
AA Change: M451T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1980 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930029G22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Ankrd42 T C 7: 92,254,566 (GRCm39) K348E possibly damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Cebpz A T 17: 79,239,532 (GRCm39) probably benign Het
Clcn4 A G 7: 7,293,520 (GRCm39) I412T probably benign Het
Clstn3 T A 6: 124,415,294 (GRCm39) D690V probably damaging Het
Col12a1 A T 9: 79,606,831 (GRCm39) F531I probably damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Ext2 A G 2: 93,570,031 (GRCm39) V460A possibly damaging Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Fscb T C 12: 64,520,210 (GRCm39) K419E probably benign Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Ggct G T 6: 54,969,759 (GRCm39) A21D probably damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Ighv2-2 G A 12: 113,552,118 (GRCm39) T40I possibly damaging Het
Itpr2 T C 6: 146,327,996 (GRCm39) K79R possibly damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lrp1b A G 2: 40,741,705 (GRCm39) L3188P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Noc4l A G 5: 110,796,969 (GRCm39) V465A probably benign Het
Notch1 A G 2: 26,350,247 (GRCm39) C2298R possibly damaging Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Plxna3 T A X: 73,383,002 (GRCm39) probably benign Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Prps1 C T X: 139,372,743 (GRCm39) probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Qng1 T A 13: 58,530,384 (GRCm39) I209F probably damaging Het
Ralgds A G 2: 28,438,781 (GRCm39) probably null Het
Rasl12 A G 9: 65,315,605 (GRCm39) N83S probably benign Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Rreb1 T C 13: 38,100,484 (GRCm39) I205T probably benign Het
Sgk2 A G 2: 162,836,449 (GRCm39) probably benign Het
Spsb4 G T 9: 96,878,071 (GRCm39) T84K probably damaging Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tep1 A G 14: 51,088,107 (GRCm39) I85T possibly damaging Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D 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
IGL02822:Matcap1 APN 8 106,011,330 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGGAGTTTATGTGACATGCTG -3'
(R):5'- TGGACTTGAAAGCCAGGCAC -3'

Sequencing Primer
(F):5'- TGCTGCTGCAGTTCACAG -3'
(R):5'- AGCCAGGCACTTTGATTAGC -3'
Posted On 2015-01-23