Incidental Mutation 'R5339:Mctp1'
ID |
423712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mctp1
|
Ensembl Gene |
ENSMUSG00000021596 |
Gene Name |
multiple C2 domains, transmembrane 1 |
Synonyms |
2810465F10Rik |
MMRRC Submission |
042918-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5339 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 76973825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000125209]
|
AlphaFold |
E9PV86 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000122843
|
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000137052
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149028
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155275
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
C |
T |
10: 10,318,350 (GRCm39) |
G158E |
probably damaging |
Het |
Adgrl2 |
C |
T |
3: 148,523,480 (GRCm39) |
R1256H |
probably benign |
Het |
C3 |
C |
A |
17: 57,531,308 (GRCm39) |
V329F |
probably damaging |
Het |
Ccdc50 |
C |
T |
16: 27,236,055 (GRCm39) |
H130Y |
probably damaging |
Het |
Chrna7 |
A |
G |
7: 62,749,055 (GRCm39) |
S476P |
probably damaging |
Het |
Crtc1 |
A |
T |
8: 70,850,383 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,536,494 (GRCm39) |
T2137A |
possibly damaging |
Het |
Ehd3 |
G |
A |
17: 74,135,202 (GRCm39) |
M359I |
possibly damaging |
Het |
Fastkd3 |
G |
A |
13: 68,738,283 (GRCm39) |
G611R |
probably damaging |
Het |
Foxa2 |
T |
A |
2: 147,886,354 (GRCm39) |
S154C |
probably damaging |
Het |
Gfm2 |
T |
C |
13: 97,311,548 (GRCm39) |
I733T |
probably benign |
Het |
Gm1968 |
T |
C |
16: 29,781,077 (GRCm39) |
|
noncoding transcript |
Het |
Gmfg-ps |
T |
C |
6: 4,893,401 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
A |
T |
14: 56,368,140 (GRCm39) |
N106K |
possibly damaging |
Het |
Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,122 (GRCm39) |
W883R |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,370,922 (GRCm39) |
V1063D |
probably damaging |
Het |
Kansl3 |
A |
C |
1: 36,406,802 (GRCm39) |
|
probably benign |
Het |
Klkb1 |
C |
A |
8: 45,723,748 (GRCm39) |
V556F |
possibly damaging |
Het |
Krtap14 |
C |
A |
16: 88,622,747 (GRCm39) |
R77S |
probably benign |
Het |
Leng8 |
T |
A |
7: 4,148,285 (GRCm39) |
Y686N |
possibly damaging |
Het |
Moxd2 |
T |
C |
6: 40,862,354 (GRCm39) |
Y155C |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,241,321 (GRCm39) |
V729A |
probably benign |
Het |
Or2w6 |
G |
A |
13: 21,843,404 (GRCm39) |
L30F |
probably benign |
Het |
Or4k1 |
C |
A |
14: 50,377,759 (GRCm39) |
M112I |
probably damaging |
Het |
Or7g27 |
G |
A |
9: 19,250,455 (GRCm39) |
G233E |
possibly damaging |
Het |
Or8g30 |
A |
T |
9: 39,230,599 (GRCm39) |
F104I |
possibly damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,229 (GRCm39) |
M98K |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Pex5 |
A |
T |
6: 124,374,963 (GRCm39) |
S629T |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,892,949 (GRCm39) |
S146P |
probably benign |
Het |
Prune2 |
G |
A |
19: 17,098,236 (GRCm39) |
E1247K |
probably damaging |
Het |
Reg3a |
A |
G |
6: 78,360,522 (GRCm39) |
|
probably null |
Het |
Snx8 |
G |
A |
5: 140,343,905 (GRCm39) |
R78C |
probably damaging |
Het |
Sstr5 |
T |
C |
17: 25,710,173 (GRCm39) |
E352G |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,121,892 (GRCm39) |
Y767C |
possibly damaging |
Het |
Tbx15 |
G |
A |
3: 99,223,600 (GRCm39) |
V263M |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 111,993,556 (GRCm39) |
Y695H |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,082,031 (GRCm39) |
L1174Q |
probably damaging |
Het |
Tg |
T |
A |
15: 66,549,942 (GRCm39) |
Y235N |
probably damaging |
Het |
Tha1 |
C |
A |
11: 117,761,908 (GRCm39) |
R111L |
possibly damaging |
Het |
Trim17 |
C |
T |
11: 58,845,336 (GRCm39) |
|
probably null |
Het |
Trim72 |
A |
G |
7: 127,609,505 (GRCm39) |
T436A |
probably benign |
Het |
Uba7 |
C |
T |
9: 107,856,065 (GRCm39) |
A480V |
probably damaging |
Het |
Ublcp1 |
A |
T |
11: 44,346,435 (GRCm39) |
S313T |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,972 (GRCm39) |
V175A |
probably benign |
Het |
Vps26a |
A |
G |
10: 62,294,746 (GRCm39) |
L276P |
probably damaging |
Het |
Zdhhc21 |
C |
T |
4: 82,756,550 (GRCm39) |
G110S |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,642,491 (GRCm39) |
E1133G |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,256,472 (GRCm39) |
S39T |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCACACTTTCTGTTGGGAC -3'
(R):5'- ATGAAAATTTCCACTGACTTCCCC -3'
Sequencing Primer
(F):5'- CACTTTCTGTTGGGACCTGCTG -3'
(R):5'- ACTGACTTCCCCCATTCCAGAC -3'
|
Posted On |
2016-08-04 |