Incidental Mutation 'R2071:Mctp1'
| ID |
227165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
040076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2071 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76907843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 238
(E238V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000125209]
[ENSMUST00000126960]
|
| AlphaFold |
E9PV86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109583
AA Change: E214V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: E214V
| 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 damaging
Transcript: ENSMUST00000125209
AA Change: E471V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: E471V
| 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 damaging
Transcript: ENSMUST00000126960
AA Change: E238V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: E238V
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
C2
|
190 |
286 |
8.43e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137052
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,474 (GRCm39) |
H283Q |
probably damaging |
Het |
| 2810021J22Rik |
A |
G |
11: 58,767,595 (GRCm39) |
K31E |
probably damaging |
Het |
| Abcc10 |
G |
C |
17: 46,614,491 (GRCm39) |
N1477K |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,897,266 (GRCm39) |
T310A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,671,594 (GRCm39) |
D92G |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,798,561 (GRCm39) |
A30T |
probably benign |
Het |
| Ash1l |
C |
G |
3: 88,873,510 (GRCm39) |
P98A |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,988,878 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,307,488 (GRCm39) |
V1474A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,466 (GRCm39) |
K24E |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt4 |
A |
T |
5: 123,649,433 (GRCm39) |
H266L |
probably benign |
Het |
| Bora |
T |
C |
14: 99,299,714 (GRCm39) |
S229P |
probably damaging |
Het |
| Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
| Cdsn |
A |
T |
17: 35,865,591 (GRCm39) |
D40V |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,860 (GRCm39) |
R323G |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,112 (GRCm39) |
|
probably benign |
Het |
| Chga |
A |
T |
12: 102,529,122 (GRCm39) |
K366N |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,309,572 (GRCm39) |
K515E |
probably null |
Het |
| Cmtr1 |
A |
G |
17: 29,913,757 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Eif1ad8 |
T |
A |
12: 87,563,822 (GRCm39) |
F52L |
probably benign |
Het |
| Fzd3 |
A |
G |
14: 65,473,012 (GRCm39) |
F252S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,312,775 (GRCm39) |
K846E |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,514 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,210,772 (GRCm39) |
Y661F |
possibly damaging |
Het |
| Hhip |
A |
G |
8: 80,783,931 (GRCm39) |
F72L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,231,136 (GRCm39) |
L181P |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,834,981 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
G |
T |
5: 123,932,340 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
G |
T |
8: 85,812,013 (GRCm39) |
V156L |
possibly damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,823 (GRCm39) |
D517G |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,135,108 (GRCm39) |
L287P |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,349,725 (GRCm39) |
I52N |
probably damaging |
Het |
| Morc1 |
C |
T |
16: 48,412,974 (GRCm39) |
T705I |
probably benign |
Het |
| Mrpl24 |
T |
C |
3: 87,830,374 (GRCm39) |
|
probably null |
Het |
| Nap1l1 |
C |
T |
10: 111,328,761 (GRCm39) |
T230I |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,181 (GRCm39) |
F28L |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,211 (GRCm39) |
I77F |
probably damaging |
Het |
| Nudt13 |
T |
A |
14: 20,354,045 (GRCm39) |
D36E |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,241,983 (GRCm38) |
L262P |
probably benign |
Het |
| Pde10a |
A |
T |
17: 9,180,827 (GRCm39) |
I754F |
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,281,092 (GRCm39) |
R397G |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,341,017 (GRCm39) |
Y176H |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,953,058 (GRCm39) |
V567E |
possibly damaging |
Het |
| Pou3f2 |
A |
G |
4: 22,488,076 (GRCm39) |
V19A |
probably benign |
Het |
| Pramel34 |
T |
G |
5: 93,784,375 (GRCm39) |
Q363P |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,556,081 (GRCm39) |
I264T |
probably benign |
Het |
| Ptprn |
C |
A |
1: 75,231,788 (GRCm39) |
G504C |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,162,339 (GRCm39) |
L8P |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,700,349 (GRCm39) |
D1615E |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,232 (GRCm39) |
M134T |
probably benign |
Het |
| Slc10a4 |
T |
C |
5: 73,164,840 (GRCm39) |
L144P |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,370 (GRCm39) |
L131P |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,252,743 (GRCm39) |
E259D |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,621 (GRCm39) |
Y415C |
probably damaging |
Het |
| Sohlh2 |
A |
G |
3: 55,115,043 (GRCm39) |
I343V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,890,753 (GRCm39) |
D1922G |
possibly damaging |
Het |
| Spats2l |
T |
A |
1: 57,979,623 (GRCm39) |
I243N |
possibly damaging |
Het |
| Specc1 |
A |
C |
11: 62,008,701 (GRCm39) |
K152N |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,101,191 (GRCm39) |
A730T |
possibly damaging |
Het |
| Tars2 |
C |
A |
3: 95,654,950 (GRCm39) |
G113C |
probably damaging |
Het |
| Tcstv2b |
A |
T |
13: 120,373,836 (GRCm39) |
D151E |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,091,739 (GRCm39) |
K601E |
probably benign |
Het |
| Trp53 |
A |
G |
11: 69,480,458 (GRCm39) |
D278G |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,030 (GRCm39) |
G230R |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,312,244 (GRCm39) |
Y183F |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,287 (GRCm39) |
C160S |
possibly damaging |
Het |
| Vcp |
A |
G |
4: 42,995,894 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,658,995 (GRCm39) |
F70L |
probably benign |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,056 (GRCm39) |
I283L |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,363 (GRCm39) |
F364L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,334,220 (GRCm39) |
L266P |
possibly 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 |
|
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'- GCAACAAAGATGGTTTACTGACTG -3'
(R):5'- CTGTCATGGAATCCACACCC -3'
Sequencing Primer
(F):5'- TGACTGAAATACATGTACACACCCG -3'
(R):5'- AGGTTCCTTCCTTCGAAACTGTAAAC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation