Incidental Mutation 'IGL02706:Mctp1'
ID 304355
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 # IGL02706
Quality Score
Status
Chromosome 13
Chromosomal Location 76532259-77179929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76971188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 629 (F629S)
Ref Sequence ENSEMBL: ENSMUSP00000118958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209]
AlphaFold E9PV86
Predicted Effect probably damaging
Transcript: ENSMUST00000109583
AA Change: F372S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: F372S

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: F629S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: F629S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155275
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,517,966 (GRCm39) E781G probably benign Het
Abcc8 C T 7: 45,816,345 (GRCm39) R265Q probably benign Het
Agtr1b A T 3: 20,370,027 (GRCm39) I193N probably benign Het
Atp6v1e2 A G 17: 87,252,362 (GRCm39) I12T probably damaging Het
Cacna1g T C 11: 94,347,818 (GRCm39) T757A probably damaging Het
Cldn15 A G 5: 137,003,685 (GRCm39) K200R probably benign Het
Dip2b G T 15: 100,113,192 (GRCm39) V1302F probably damaging Het
Dnajb6 T A 5: 29,957,421 (GRCm39) Y68N probably damaging Het
Dok1 T A 6: 83,009,315 (GRCm39) E179V probably damaging Het
Epha4 T C 1: 77,403,482 (GRCm39) T342A probably damaging Het
Etf1 A T 18: 35,064,690 (GRCm39) S6R possibly damaging Het
Fryl T C 5: 73,250,506 (GRCm39) I987V probably benign Het
Gba2 C T 4: 43,567,257 (GRCm39) G897S probably benign Het
Habp2 G T 19: 56,298,570 (GRCm39) probably null Het
Hapln1 G T 13: 89,753,578 (GRCm39) S248I possibly damaging Het
Hydin A G 8: 111,137,198 (GRCm39) D667G probably damaging Het
Kcnma1 T A 14: 23,359,222 (GRCm39) H1074L probably damaging Het
Kctd9 T C 14: 67,962,130 (GRCm39) probably null Het
L3mbtl4 A G 17: 68,793,914 (GRCm39) D306G probably damaging Het
Lgalsl T C 11: 20,780,090 (GRCm39) R49G probably damaging Het
Lpo C T 11: 87,708,599 (GRCm39) S133N probably benign Het
Lrp8 A T 4: 107,660,516 (GRCm39) R59* probably null Het
Med1 A G 11: 98,047,533 (GRCm39) probably benign Het
Nbea T C 3: 55,944,699 (GRCm39) H555R probably damaging Het
Nedd1 T C 10: 92,522,147 (GRCm39) H630R possibly damaging Het
Nr3c2 A T 8: 77,635,045 (GRCm39) probably null Het
Nubp2 A T 17: 25,102,171 (GRCm39) V267E probably benign Het
Oacyl A T 18: 65,882,792 (GRCm39) Y629F probably damaging Het
Or1n1b A G 2: 36,780,731 (GRCm39) I43T probably damaging Het
Or1x2 T A 11: 50,918,091 (GRCm39) H87Q probably damaging Het
Or5b119 A T 19: 13,457,462 (GRCm39) Y33* probably null Het
Pknox2 T C 9: 36,847,675 (GRCm39) H114R probably benign Het
Ppp2r1b A G 9: 50,790,134 (GRCm39) D564G possibly damaging Het
Ppp3ca T G 3: 136,611,079 (GRCm39) N367K possibly damaging Het
Ptprn2 T C 12: 116,852,518 (GRCm39) V525A probably damaging Het
Reps1 T G 10: 17,998,763 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Sipa1l1 A G 12: 82,444,207 (GRCm39) I973V possibly damaging Het
Ssh2 T A 11: 77,344,232 (GRCm39) V739D possibly damaging Het
Tbc1d24 A G 17: 24,404,395 (GRCm39) F250L probably benign Het
Ube3a T A 7: 58,921,881 (GRCm39) H84Q possibly damaging Het
Usp34 T C 11: 23,338,659 (GRCm39) probably benign Het
Zdhhc8 G T 16: 18,042,758 (GRCm39) L481I probably damaging Het
Zfp574 A G 7: 24,780,790 (GRCm39) H604R probably damaging Het
Zfp945 A T 17: 23,076,256 (GRCm39) M63K probably damaging Het
Other mutations in Mctp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Mctp1 APN 13 77,168,917 (GRCm39) missense probably damaging 0.98
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
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 2015-04-16