Incidental Mutation 'R0138:Mctp1'
| ID |
22127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
038423-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0138 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76975831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 478
(R478C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000125209]
|
| AlphaFold |
E9PV86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109583
AA Change: R478C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: R478C
| 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 damaging
Transcript: ENSMUST00000125209
AA Change: R735C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: R735C
| 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 |
0.3486 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
97% (76/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,899,098 (GRCm39) |
N693K |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,841,454 (GRCm39) |
V845D |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,819,896 (GRCm39) |
F269Y |
probably benign |
Het |
| Anxa8 |
T |
A |
14: 33,819,897 (GRCm39) |
F295L |
possibly damaging |
Het |
| Aox4 |
C |
G |
1: 58,268,025 (GRCm39) |
L202V |
probably damaging |
Het |
| Ap3s2 |
A |
G |
7: 79,559,617 (GRCm39) |
V104A |
probably benign |
Het |
| Aqp3 |
G |
A |
4: 41,094,843 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
C |
T |
3: 62,355,680 (GRCm39) |
H751Y |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,331 (GRCm39) |
Q291L |
possibly damaging |
Het |
| Bap1 |
T |
C |
14: 30,978,681 (GRCm39) |
Y31H |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,924,759 (GRCm39) |
V655D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,238,820 (GRCm39) |
S663P |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,744,693 (GRCm39) |
D357G |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,194,073 (GRCm39) |
T90A |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,330,134 (GRCm39) |
D803V |
probably damaging |
Het |
| Clnk |
C |
A |
5: 38,931,951 (GRCm39) |
|
probably benign |
Het |
| Cyp46a1 |
A |
G |
12: 108,317,470 (GRCm39) |
N158S |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,160,080 (GRCm39) |
I98T |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dll3 |
T |
A |
7: 28,000,746 (GRCm39) |
D103V |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,629,814 (GRCm39) |
M446K |
possibly damaging |
Het |
| Dppa4 |
A |
T |
16: 48,111,425 (GRCm39) |
T85S |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,494,095 (GRCm39) |
H57L |
probably damaging |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,663,269 (GRCm39) |
Q1073L |
possibly damaging |
Het |
| Foxp4 |
T |
C |
17: 48,180,104 (GRCm39) |
D599G |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,675,456 (GRCm39) |
V128A |
possibly damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,926,935 (GRCm39) |
D608N |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,350,317 (GRCm39) |
|
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,768,926 (GRCm39) |
E98G |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,428 (GRCm39) |
I116V |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,058,169 (GRCm39) |
N240S |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,241,445 (GRCm39) |
T322I |
probably damaging |
Het |
| Hs3st4 |
A |
T |
7: 123,996,416 (GRCm39) |
M361L |
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,257,129 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,319 (GRCm39) |
C173S |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,213,524 (GRCm39) |
V65E |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,092,267 (GRCm39) |
D357E |
possibly damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,901,345 (GRCm39) |
V550E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,540 (GRCm39) |
Y1490H |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,281 (GRCm39) |
|
probably benign |
Het |
| Mcm5 |
T |
A |
8: 75,847,508 (GRCm39) |
V435D |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,959,817 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 20,919,888 (GRCm39) |
Y280H |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,687,892 (GRCm39) |
E61G |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,551,827 (GRCm39) |
Y337H |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,143,204 (GRCm39) |
T165S |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,685,138 (GRCm39) |
R81W |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,051,030 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
A |
G |
8: 86,367,673 (GRCm39) |
I357T |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,643,607 (GRCm39) |
S3P |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,210 (GRCm39) |
I261L |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,863 (GRCm39) |
I54T |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,355,267 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
T |
A |
5: 36,361,975 (GRCm39) |
V189E |
probably damaging |
Het |
| Ptdss2 |
T |
G |
7: 140,735,232 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,307,322 (GRCm39) |
C661R |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,595,380 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,279,426 (GRCm39) |
T696A |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,377,982 (GRCm39) |
H87Q |
probably benign |
Het |
| Serpinb11 |
T |
A |
1: 107,305,260 (GRCm39) |
M212K |
probably damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,183,885 (GRCm39) |
T248K |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,701,679 (GRCm39) |
|
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,627 (GRCm39) |
H32Q |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,818,600 (GRCm39) |
V1412E |
possibly damaging |
Het |
| Usp19 |
C |
A |
9: 108,378,514 (GRCm39) |
P1326Q |
possibly damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,596 (GRCm39) |
M307K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,048 (GRCm39) |
T616S |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,637,863 (GRCm39) |
T2406I |
possibly damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,053 (GRCm39) |
M328L |
probably benign |
Het |
| Zp2 |
A |
G |
7: 119,736,423 (GRCm39) |
F340S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTTGAAGACAGGAGCAGTCCTAGT -3'
(R):5'- GCCACAGAGACTTGGAGCTAAGATGAC -3'
Sequencing Primer
(F):5'- CTTTAAATGGTGAGCCAAGTAGC -3'
(R):5'- CTTGGAGCTAAGATGACTGAATCTG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation