Incidental Mutation 'R7026:Mctp1'
ID 545987
Institutional Source Beutler Lab
Gene Symbol Mctp1
Ensembl Gene ENSMUSG00000021596
Gene Name multiple C2 domains, transmembrane 1
Synonyms 2810465F10Rik
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 76532259-77179929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76954378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 596 (T596A)
Ref Sequence ENSEMBL: ENSMUSP00000118958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209]
AlphaFold E9PV86
Predicted Effect probably benign
Transcript: ENSMUST00000109583
AA Change: T339A

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: T339A

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 benign
Transcript: ENSMUST00000125209
AA Change: T596A

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: T596A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTGCATTCCTGACACAAGAAG -3'
(R):5'- GGCAACTGGGAATTATCAAGTC -3'

Sequencing Primer
(F):5'- GACCCTTGAGACAACATGTTG -3'
(R):5'- CAAGTCTTTTGTGAGATCAACTCTG -3'
Posted On 2019-05-13