Incidental Mutation 'R7942:Mctp1'
ID 649118
Institutional Source Beutler Lab
Gene Symbol Mctp1
Ensembl Gene ENSMUSG00000021596
Gene Name multiple C2 domains, transmembrane 1
Synonyms 2810465F10Rik
MMRRC Submission 045988-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7942 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76532259-77179929 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 76789829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000109589] [ENSMUST00000125209] [ENSMUST00000126960]
AlphaFold E9PV86
Predicted Effect probably null
Transcript: ENSMUST00000109583
SMART Domains Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596

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 probably null
Transcript: ENSMUST00000109589
SMART Domains Protein: ENSMUSP00000105218
Gene: ENSMUSG00000021596

DomainStartEndE-ValueType
C2 40 137 1.15e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125209
SMART Domains Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596

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 probably null
Transcript: ENSMUST00000126960
SMART Domains Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596

DomainStartEndE-ValueType
C2 40 137 1.15e-15 SMART
C2 190 286 8.43e-14 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,087,027 (GRCm39) I565T probably damaging Het
Adamts8 G A 9: 30,864,778 (GRCm39) C423Y probably damaging Het
Adamts8 G A 9: 30,870,209 (GRCm39) probably null Het
Ahctf1 A C 1: 179,613,660 (GRCm39) V490G possibly damaging Het
Akap13 A G 7: 75,261,218 (GRCm39) T478A possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ano9 T C 7: 140,683,989 (GRCm39) S559G probably damaging Het
Aox1 A G 1: 58,376,590 (GRCm39) T924A probably damaging Het
Atp13a1 A G 8: 70,259,870 (GRCm39) E1126G probably damaging Het
Bcan A G 3: 87,900,382 (GRCm39) V617A probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cldnd1 A T 16: 58,550,078 (GRCm39) N87I possibly damaging Het
Enpp2 A T 15: 54,709,275 (GRCm39) V784E probably damaging Het
Eps8 T A 6: 137,507,575 (GRCm39) Y51F possibly damaging Het
Fam184b T C 5: 45,741,595 (GRCm39) K212R probably benign Het
Fbn1 A C 2: 125,254,706 (GRCm39) C186G possibly damaging Het
Fsip1 G A 2: 117,967,092 (GRCm39) T411I probably benign Het
Glyr1 T C 16: 4,836,785 (GRCm39) T460A probably benign Het
Gm19410 G A 8: 36,238,940 (GRCm39) G70R probably damaging Het
Gna15 G A 10: 81,359,745 (GRCm39) T15I probably damaging Het
Heg1 T C 16: 33,571,570 (GRCm39) C1198R probably damaging Het
Hoxd1 A G 2: 74,594,504 (GRCm39) Y253C probably damaging Het
Il17re G T 6: 113,443,111 (GRCm39) Q316H probably damaging Het
Jakmip1 C A 5: 37,331,182 (GRCm39) P621T probably benign Het
Krt71 T C 15: 101,643,894 (GRCm39) Y448C probably damaging Het
Lgals8 A G 13: 12,468,137 (GRCm39) probably null Het
Marchf11 A G 15: 26,409,505 (GRCm39) *401W probably null Het
Mms19 C A 19: 41,944,400 (GRCm39) V310F probably damaging Het
Mycbp2 A T 14: 103,392,674 (GRCm39) F3296I probably damaging Het
Myo7b A T 18: 32,146,422 (GRCm39) I121N probably damaging Het
Nr0b2 T C 4: 133,280,847 (GRCm39) S38P probably benign Het
Nudt16l1 T A 16: 4,757,243 (GRCm39) M52K probably benign Het
Or3a4 A G 11: 73,945,054 (GRCm39) I177T probably damaging Het
Or8k32 T C 2: 86,368,566 (GRCm39) N229S probably benign Het
Polr3gl A T 3: 96,489,552 (GRCm39) probably null Het
Ptch2 T A 4: 116,963,198 (GRCm39) F228L probably benign Het
Slc35d1 A G 4: 103,070,360 (GRCm39) probably null Het
Slc41a1 G A 1: 131,768,635 (GRCm39) V198I probably damaging Het
Slc5a7 T C 17: 54,583,709 (GRCm39) D527G possibly damaging Het
Spaca7b A G 8: 11,705,615 (GRCm39) I164T unknown Het
Spag16 G T 1: 69,866,247 (GRCm39) A29S probably benign Het
Speer4f2 T A 5: 17,582,630 (GRCm39) D284E unknown Het
Sspo A G 6: 48,465,434 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,517 (GRCm39) K89R possibly damaging Het
Tek C T 4: 94,740,111 (GRCm39) probably null Het
Tet3 C T 6: 83,353,956 (GRCm39) V902M probably damaging Het
Tpcn2 C T 7: 144,810,928 (GRCm39) V590M probably damaging Het
Trcg1 T C 9: 57,149,499 (GRCm39) V357A probably benign Het
Tspan18 A G 2: 93,041,203 (GRCm39) V133A probably benign Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Vmn2r95 T A 17: 18,660,529 (GRCm39) L314I possibly damaging Het
Wdsub1 G A 2: 59,707,061 (GRCm39) A178V probably damaging Het
Zfp407 A G 18: 84,577,754 (GRCm39) S1120P probably benign Het
Zfp57 T C 17: 37,320,566 (GRCm39) F140S 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAAATCACCAGCTGTAAACAGAG -3'
(R):5'- TGAAGAAAACACACTCTGTCAGAAG -3'

Sequencing Primer
(F):5'- ACCAGCTGTAAACAGAGTTAAAATAG -3'
(R):5'- ACTCTGTCAGAAGCACATAGAG -3'
Posted On 2020-09-15