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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000125209
|
SMART Domains |
Protein: ENSMUSP00000118958 Gene: ENSMUSG00000021596
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
C2
|
40 |
137 |
1.15e-15 |
SMART |
C2
|
190 |
286 |
8.43e-14 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |