Incidental Mutation 'R5913:Mctp1'
| ID |
461138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
044110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5913 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 76907944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000109583]
[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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000137052
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
T |
9: 110,718,773 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,609 (GRCm39) |
H457L |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,858 (GRCm39) |
Y856C |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,187,612 (GRCm39) |
V1585D |
probably benign |
Het |
| Bhlhe40 |
T |
G |
6: 108,642,154 (GRCm39) |
M366R |
possibly damaging |
Het |
| Bora |
C |
T |
14: 99,305,948 (GRCm39) |
S439L |
probably benign |
Het |
| Cacnb4 |
G |
A |
2: 52,324,796 (GRCm39) |
|
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,498,848 (GRCm39) |
S529P |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,610,034 (GRCm39) |
I84M |
possibly damaging |
Het |
| Cd209a |
A |
G |
8: 3,798,742 (GRCm39) |
S22P |
probably benign |
Het |
| Celf2 |
A |
T |
2: 7,085,969 (GRCm39) |
M1K |
probably null |
Het |
| Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,335 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,131,760 (GRCm39) |
R366K |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,445,781 (GRCm39) |
K3284E |
probably benign |
Het |
| Csn3 |
T |
A |
5: 88,075,470 (GRCm39) |
L12Q |
probably damaging |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,691 (GRCm39) |
L39P |
probably damaging |
Het |
| Cxcl17 |
C |
T |
7: 25,101,671 (GRCm39) |
W55* |
probably null |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,860 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,888,831 (GRCm39) |
E823V |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,256 (GRCm39) |
I3078V |
probably damaging |
Het |
| Dpp10 |
A |
C |
1: 123,312,018 (GRCm39) |
Y446D |
probably damaging |
Het |
| Eif2s3y |
T |
C |
Y: 1,017,365 (GRCm39) |
V290A |
probably benign |
Homo |
| Fktn |
G |
A |
4: 53,735,035 (GRCm39) |
W224* |
probably null |
Het |
| Gm37240 |
T |
C |
3: 84,874,905 (GRCm39) |
|
probably benign |
Het |
| Gpr3 |
A |
G |
4: 132,938,489 (GRCm39) |
V61A |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,237,470 (GRCm39) |
|
probably null |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,462,037 (GRCm39) |
I968K |
possibly damaging |
Het |
| Hmox2 |
G |
T |
16: 4,582,732 (GRCm39) |
R155L |
probably damaging |
Het |
| Ifnlr1 |
C |
A |
4: 135,432,580 (GRCm39) |
Q339K |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,432,581 (GRCm39) |
Q339L |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,941,741 (GRCm39) |
S365T |
probably benign |
Het |
| Klrb1a |
T |
G |
6: 128,595,472 (GRCm39) |
D124A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,832 (GRCm39) |
I78N |
probably damaging |
Het |
| Muc21 |
C |
T |
17: 35,934,123 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
T |
4: 155,927,760 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,327,902 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| P2ry13 |
T |
C |
3: 59,116,786 (GRCm39) |
T331A |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,952 (GRCm39) |
R62H |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,707 (GRCm39) |
Q313L |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,045 (GRCm39) |
I18V |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,891,142 (GRCm39) |
R717G |
probably benign |
Het |
| Pcif1 |
C |
A |
2: 164,726,412 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,813,849 (GRCm39) |
T1501A |
probably benign |
Het |
| Plekhg2 |
C |
A |
7: 28,064,027 (GRCm39) |
R473L |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,307,152 (GRCm39) |
Y466C |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,519,368 (GRCm39) |
S83P |
possibly damaging |
Het |
| Sgcz |
T |
A |
8: 37,993,425 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,036,907 (GRCm39) |
P381L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,431 (GRCm39) |
I536F |
probably damaging |
Het |
| Src |
T |
A |
2: 157,307,950 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
A |
15: 44,651,017 (GRCm39) |
T96S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,929 (GRCm39) |
Y363H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,302 (GRCm39) |
E582G |
possibly damaging |
Het |
| Tmem131 |
C |
A |
1: 36,858,209 (GRCm39) |
V713L |
probably benign |
Het |
| Tnfsf13b |
T |
A |
8: 10,056,988 (GRCm39) |
L49Q |
probably damaging |
Het |
| Trem2 |
T |
A |
17: 48,653,661 (GRCm39) |
|
probably benign |
Het |
| Tspyl3 |
T |
A |
2: 153,066,636 (GRCm39) |
M201L |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,961 (GRCm39) |
D141G |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,951,889 (GRCm39) |
V153A |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,851,559 (GRCm39) |
Y1842C |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,086,229 (GRCm39) |
V656A |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
| Vmo1 |
A |
T |
11: 70,405,241 (GRCm39) |
V63D |
probably damaging |
Het |
| Zcwpw1 |
T |
A |
5: 137,798,269 (GRCm39) |
D155E |
probably benign |
Het |
| Zeb1 |
T |
G |
18: 5,766,765 (GRCm39) |
S425R |
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 |
|
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 |
|
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'- GGTTGAATGAACTACCGCCC -3'
(R):5'- TTCTGTCATGGAATCCACACCC -3'
Sequencing Primer
(F):5'- GGTTGAATGAACTACCGCCCTTAAG -3'
(R):5'- GGTTCCTTCCTTCGAAAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation