Incidental Mutation 'R5307:Mctp1'
| ID |
404665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
042890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to A
at 76860198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000109583]
[ENSMUST00000109589]
[ENSMUST00000109589]
[ENSMUST00000125209]
[ENSMUST00000125209]
[ENSMUST00000126960]
[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: 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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,559,383 (GRCm39) |
T264A |
probably benign |
Het |
| Arhgef17 |
C |
G |
7: 100,578,635 (GRCm39) |
G771A |
probably benign |
Het |
| Atg2b |
T |
A |
12: 105,624,588 (GRCm39) |
D637V |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,103,302 (GRCm39) |
E562G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,497,280 (GRCm39) |
V342A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,810 (GRCm39) |
I527T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,760,597 (GRCm39) |
N1022K |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,562,683 (GRCm39) |
D383E |
probably benign |
Het |
| Casq1 |
A |
T |
1: 172,046,983 (GRCm39) |
L92Q |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,952,832 (GRCm39) |
Y371N |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,723,777 (GRCm39) |
A617T |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,205,576 (GRCm39) |
R419S |
possibly damaging |
Het |
| Corin |
C |
A |
5: 72,514,321 (GRCm39) |
G318C |
probably damaging |
Het |
| Cpa3 |
A |
G |
3: 20,281,327 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,879,710 (GRCm39) |
S493G |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,826,321 (GRCm39) |
F80S |
probably damaging |
Het |
| Dhrs2 |
A |
G |
14: 55,473,601 (GRCm39) |
S87G |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,414,641 (GRCm39) |
E14G |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,588,942 (GRCm39) |
E200G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,155,099 (GRCm39) |
E895G |
probably damaging |
Het |
| Ehhadh |
A |
C |
16: 21,581,442 (GRCm39) |
S517A |
probably benign |
Het |
| Ephb2 |
C |
A |
4: 136,421,098 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,361,574 (GRCm39) |
T526A |
probably damaging |
Het |
| Fam222b |
G |
A |
11: 78,044,594 (GRCm39) |
V52I |
probably damaging |
Het |
| Galm |
G |
A |
17: 80,452,416 (GRCm39) |
W118* |
probably null |
Het |
| Galm |
G |
T |
17: 80,452,417 (GRCm39) |
W118C |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,921,367 (GRCm39) |
N458D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gykl1 |
A |
C |
18: 52,827,723 (GRCm39) |
R310S |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,405,403 (GRCm39) |
V27G |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,108 (GRCm39) |
M90L |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,164,877 (GRCm39) |
E87G |
unknown |
Het |
| Hps3 |
G |
A |
3: 20,066,865 (GRCm39) |
S567L |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,892,676 (GRCm39) |
V2148E |
probably damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,572 (GRCm39) |
R117G |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,036,464 (GRCm39) |
A1134V |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,281,098 (GRCm39) |
A1294T |
possibly damaging |
Het |
| Leng8 |
C |
T |
7: 4,148,472 (GRCm39) |
T748I |
probably damaging |
Het |
| Lrig3 |
G |
C |
10: 125,842,559 (GRCm39) |
D495H |
probably damaging |
Het |
| Mfsd3 |
T |
A |
15: 76,586,371 (GRCm39) |
L168* |
probably null |
Het |
| Nherf1 |
T |
A |
11: 115,054,587 (GRCm39) |
I79N |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,096,709 (GRCm39) |
G921* |
probably null |
Het |
| Nsun4 |
G |
A |
4: 115,891,335 (GRCm39) |
T348I |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,147,842 (GRCm39) |
T246A |
probably damaging |
Het |
| Nynrin |
A |
C |
14: 56,101,263 (GRCm39) |
S311R |
probably damaging |
Het |
| Or4k37 |
T |
A |
2: 111,158,741 (GRCm39) |
|
probably null |
Het |
| Or5ar1 |
T |
G |
2: 85,671,358 (GRCm39) |
Y259S |
probably damaging |
Het |
| Ovch2 |
C |
A |
7: 107,391,341 (GRCm39) |
R303L |
probably benign |
Het |
| Pcsk9 |
A |
G |
4: 106,304,371 (GRCm39) |
S490P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,140,894 (GRCm39) |
F859L |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,424 (GRCm39) |
D1207G |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,911,964 (GRCm39) |
R710Q |
possibly damaging |
Het |
| Prex2 |
T |
G |
1: 11,270,256 (GRCm39) |
S1314A |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,078,757 (GRCm39) |
L64P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc6a20b |
T |
G |
9: 123,432,899 (GRCm39) |
S374R |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,653 (GRCm39) |
N128K |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,211 (GRCm39) |
D32V |
probably damaging |
Het |
| Snrnp35 |
T |
C |
5: 124,628,553 (GRCm39) |
I122T |
possibly damaging |
Het |
| Snx24 |
C |
T |
18: 53,473,283 (GRCm39) |
Q76* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,431,784 (GRCm39) |
H692Q |
probably damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,701,114 (GRCm39) |
D585G |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,072,677 (GRCm39) |
N2211D |
possibly damaging |
Het |
| Tnfrsf18 |
G |
A |
4: 156,112,881 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
G |
3: 28,596,121 (GRCm39) |
D171E |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,533,745 (GRCm39) |
H266L |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,725,114 (GRCm39) |
S2037* |
probably null |
Het |
| Tuba3a |
G |
A |
6: 125,258,273 (GRCm39) |
T239I |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,890,594 (GRCm39) |
D767E |
probably benign |
Het |
| Whrn |
G |
T |
4: 63,350,080 (GRCm39) |
H546N |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,341,506 (GRCm39) |
T1249I |
probably damaging |
Het |
| Zbtb1 |
T |
A |
12: 76,433,014 (GRCm39) |
D333E |
probably damaging |
Het |
| Zfp689 |
T |
G |
7: 127,047,987 (GRCm39) |
E15A |
possibly damaging |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
probably benign |
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 |
|
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'- ACAATCTGAACATATGTTTGTAAGGA -3'
(R):5'- GGCAAGGACATGGTATCAGTAGG -3'
Sequencing Primer
(F):5'- AGGATTAGAAAGAATGTGTCTAAACC -3'
(R):5'- ATCAGTAGGAATCTGTACTGACTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation