Incidental Mutation 'IGL01089:Mctp1'
ID 52555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mctp1
Ensembl Gene ENSMUSG00000021596
Gene Name multiple C2 domains, transmembrane 1
Synonyms 2810465F10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01089
Quality Score
Status
Chromosome 13
Chromosomal Location 76532259-77179929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77168917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 838 (E838G)
Ref Sequence ENSEMBL: ENSMUSP00000118958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209]
AlphaFold E9PV86
Predicted Effect possibly damaging
Transcript: ENSMUST00000109583
AA Change: E581G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: E581G

DomainStartEndE-ValueType
C2 3 100 1.15e-15 SMART
C2 166 263 1.35e-21 SMART
C2 322 418 4.76e-22 SMART
transmembrane domain 513 535 N/A INTRINSIC
Pfam:PRT_C 542 672 3.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122843
Predicted Effect probably damaging
Transcript: ENSMUST00000125209
AA Change: E838G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: E838G

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
low complexity region 49 63 N/A INTRINSIC
low complexity region 134 174 N/A INTRINSIC
low complexity region 211 228 N/A INTRINSIC
C2 260 357 1.15e-15 SMART
C2 423 520 1.35e-21 SMART
C2 579 675 4.76e-22 SMART
transmembrane domain 770 792 N/A INTRINSIC
Pfam:PRT_C 800 929 2.2e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,710,292 (GRCm39) L353S probably damaging Het
Adgrf2 G A 17: 43,021,049 (GRCm39) P592S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Afap1l2 A C 19: 56,901,843 (GRCm39) probably null Het
Asnsd1 G A 1: 53,387,436 (GRCm39) P64S probably damaging Het
Bmt2 A G 6: 13,663,270 (GRCm39) M76T probably damaging Het
Clca3b A T 3: 144,529,283 (GRCm39) V797D probably benign Het
Cog2 T C 8: 125,271,982 (GRCm39) S499P probably benign Het
Cyp27a1 A T 1: 74,771,097 (GRCm39) Y94F possibly damaging Het
D630045J12Rik A G 6: 38,113,898 (GRCm39) S1765P probably benign Het
Fam149a A G 8: 45,801,564 (GRCm39) L519P possibly damaging Het
Fam171a2 G A 11: 102,328,674 (GRCm39) A695V possibly damaging Het
Fat1 T A 8: 45,470,894 (GRCm39) V1566E probably damaging Het
Flvcr1 T G 1: 190,745,587 (GRCm39) N361H probably damaging Het
Gm1110 T C 9: 26,793,156 (GRCm39) N540S probably benign Het
Katnip A G 7: 125,394,485 (GRCm39) E187G probably damaging Het
Kcns3 T A 12: 11,141,572 (GRCm39) T376S possibly damaging Het
Krt32 A G 11: 99,978,605 (GRCm39) S150P probably benign Het
Liat1 A G 11: 75,894,163 (GRCm39) E180G possibly damaging Het
Lrtm2 C T 6: 119,297,753 (GRCm39) R96Q possibly damaging Het
Mios T C 6: 8,234,363 (GRCm39) probably null Het
Or1j10 A T 2: 36,267,178 (GRCm39) Y130F probably damaging Het
Phldb1 T A 9: 44,619,184 (GRCm39) K167* probably null Het
Pkhd1l1 A G 15: 44,347,265 (GRCm39) probably benign Het
Plaa A G 4: 94,462,284 (GRCm39) V531A probably benign Het
Psmb2 A G 4: 126,577,999 (GRCm39) Y59C probably damaging Het
Ptprg A G 14: 12,215,286 (GRCm38) H1091R probably damaging Het
Rbm44 T A 1: 91,096,419 (GRCm39) V926D possibly damaging Het
Rgma G T 7: 73,059,462 (GRCm39) V189L possibly damaging Het
Sbf2 A T 7: 109,948,169 (GRCm39) I1227K probably damaging Het
Slc8a1 T C 17: 81,955,710 (GRCm39) T443A probably damaging Het
Slc8a1 A G 17: 81,696,310 (GRCm39) V896A probably damaging Het
Taf2 T C 15: 54,879,977 (GRCm39) M1120V probably benign Het
Ugt2b34 C T 5: 87,054,185 (GRCm39) V199I probably benign Het
Unc5c C A 3: 141,523,963 (GRCm39) probably benign Het
Usp37 G A 1: 74,532,205 (GRCm39) R63* probably null Het
Other mutations in Mctp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Mctp1 APN 13 76,533,074 (GRCm39) missense probably benign
IGL02192:Mctp1 APN 13 76,879,887 (GRCm39) intron probably benign
IGL02342:Mctp1 APN 13 77,172,976 (GRCm39) missense probably damaging 1.00
IGL02706:Mctp1 APN 13 76,971,188 (GRCm39) missense probably damaging 1.00
IGL02950:Mctp1 APN 13 77,172,929 (GRCm39) missense probably damaging 1.00
IGL03064:Mctp1 APN 13 76,949,632 (GRCm39) nonsense probably null
IGL03230:Mctp1 APN 13 76,972,976 (GRCm39) missense possibly damaging 0.49
R0138:Mctp1 UTSW 13 76,975,831 (GRCm39) missense probably damaging 1.00
R0355:Mctp1 UTSW 13 76,972,982 (GRCm39) missense probably damaging 1.00
R0383:Mctp1 UTSW 13 76,949,663 (GRCm39) missense probably damaging 1.00
R0426:Mctp1 UTSW 13 77,168,940 (GRCm39) missense probably benign 0.01
R0462:Mctp1 UTSW 13 76,949,520 (GRCm39) missense probably damaging 1.00
R0483:Mctp1 UTSW 13 76,975,846 (GRCm39) missense probably damaging 1.00
R0685:Mctp1 UTSW 13 76,973,918 (GRCm39) critical splice donor site probably null
R1468:Mctp1 UTSW 13 76,973,392 (GRCm39) missense probably benign 0.25
R1468:Mctp1 UTSW 13 76,973,392 (GRCm39) missense probably benign 0.25
R1854:Mctp1 UTSW 13 76,973,860 (GRCm39) missense probably damaging 0.96
R1864:Mctp1 UTSW 13 76,533,267 (GRCm39) missense possibly damaging 0.63
R1865:Mctp1 UTSW 13 76,533,267 (GRCm39) missense possibly damaging 0.63
R1920:Mctp1 UTSW 13 76,532,729 (GRCm39) missense possibly damaging 0.67
R2071:Mctp1 UTSW 13 76,907,843 (GRCm39) missense probably damaging 1.00
R2127:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R2128:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R2129:Mctp1 UTSW 13 76,972,941 (GRCm39) missense probably damaging 1.00
R3709:Mctp1 UTSW 13 76,972,999 (GRCm39) splice site probably null
R4463:Mctp1 UTSW 13 76,860,206 (GRCm39) missense probably damaging 1.00
R4510:Mctp1 UTSW 13 76,973,391 (GRCm39) missense probably benign 0.20
R4511:Mctp1 UTSW 13 76,973,391 (GRCm39) missense probably benign 0.20
R4951:Mctp1 UTSW 13 76,975,894 (GRCm39) missense probably damaging 0.96
R5004:Mctp1 UTSW 13 76,789,923 (GRCm39) missense possibly damaging 0.79
R5307:Mctp1 UTSW 13 76,860,198 (GRCm39) critical splice acceptor site probably null
R5339:Mctp1 UTSW 13 76,973,825 (GRCm39) intron probably benign
R5639:Mctp1 UTSW 13 77,172,902 (GRCm39) splice site silent
R5769:Mctp1 UTSW 13 76,907,927 (GRCm39) missense probably damaging 1.00
R5800:Mctp1 UTSW 13 76,836,678 (GRCm39) missense probably damaging 1.00
R5913:Mctp1 UTSW 13 76,907,944 (GRCm39) splice site probably null
R5981:Mctp1 UTSW 13 76,905,229 (GRCm39) missense probably damaging 1.00
R6024:Mctp1 UTSW 13 76,533,280 (GRCm39) missense probably damaging 0.98
R6192:Mctp1 UTSW 13 76,971,082 (GRCm39) splice site probably null
R6331:Mctp1 UTSW 13 77,168,982 (GRCm39) critical splice donor site probably null
R6468:Mctp1 UTSW 13 76,879,930 (GRCm39) critical splice donor site probably null
R6484:Mctp1 UTSW 13 76,836,744 (GRCm39) missense probably benign 0.02
R6656:Mctp1 UTSW 13 77,178,055 (GRCm39) missense probably damaging 0.99
R7026:Mctp1 UTSW 13 76,954,378 (GRCm39) missense probably benign 0.35
R7482:Mctp1 UTSW 13 76,889,579 (GRCm39) splice site probably null
R7890:Mctp1 UTSW 13 76,975,876 (GRCm39) missense probably damaging 1.00
R7942:Mctp1 UTSW 13 76,789,829 (GRCm39) critical splice acceptor site probably null
R8029:Mctp1 UTSW 13 77,178,005 (GRCm39) missense probably damaging 1.00
R8034:Mctp1 UTSW 13 77,039,670 (GRCm39) missense probably damaging 0.99
R8085:Mctp1 UTSW 13 76,972,972 (GRCm39) missense probably benign 0.00
R8258:Mctp1 UTSW 13 76,949,666 (GRCm39) critical splice donor site probably null
R8259:Mctp1 UTSW 13 76,949,666 (GRCm39) critical splice donor site probably null
R8286:Mctp1 UTSW 13 76,905,174 (GRCm39) missense probably benign 0.22
R8713:Mctp1 UTSW 13 76,789,922 (GRCm39) missense probably benign
R9029:Mctp1 UTSW 13 76,836,741 (GRCm39) missense probably benign 0.36
R9218:Mctp1 UTSW 13 76,871,816 (GRCm39) missense possibly damaging 0.94
R9447:Mctp1 UTSW 13 76,727,904 (GRCm39) missense probably benign 0.00
R9457:Mctp1 UTSW 13 76,532,793 (GRCm39) missense probably benign
R9670:Mctp1 UTSW 13 76,532,840 (GRCm39) missense probably benign 0.01
Z1189:Mctp1 UTSW 13 76,971,161 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21