Incidental Mutation 'R9029:Mctp1'
| ID |
686955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
068858-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76836741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 323
(Y323N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000109589]
[ENSMUST00000125209]
[ENSMUST00000126960]
|
| AlphaFold |
E9PV86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109583
AA Change: Y66N
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: Y66N
| 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: ENSMUST00000109589
AA Change: Y103N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105218
Gene: ENSMUSG00000021596
AA Change: Y103N
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125209
AA Change: Y323N
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: Y323N
| 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: Y103N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: Y103N
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
C2
|
190 |
286 |
8.43e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
T |
3: 96,591,460 (GRCm39) |
K582M |
probably benign |
Het |
| Catsper3 |
T |
G |
13: 55,954,147 (GRCm39) |
V305G |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
| Cpne3 |
A |
G |
4: 19,535,292 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Cramp1 |
C |
G |
17: 25,232,884 (GRCm39) |
A39P |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,554,035 (GRCm39) |
V194E |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,402,919 (GRCm39) |
S3208P |
probably benign |
Het |
| Dhrs3 |
A |
G |
4: 144,653,755 (GRCm39) |
Y292C |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,968,412 (GRCm39) |
V227A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,174,716 (GRCm39) |
V290A |
probably damaging |
Het |
| Epb41l4a |
A |
C |
18: 34,012,042 (GRCm39) |
Y159* |
probably null |
Het |
| Gm5460 |
T |
A |
14: 33,739,326 (GRCm39) |
S103T |
|
Het |
| Gsto1 |
A |
T |
19: 47,852,837 (GRCm39) |
Y224F |
probably benign |
Het |
| Hpd |
G |
A |
5: 123,313,973 (GRCm39) |
T271M |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,506,271 (GRCm39) |
I18T |
probably benign |
Het |
| Kif12 |
A |
G |
4: 63,087,704 (GRCm39) |
C260R |
probably damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Luc7l3 |
A |
G |
11: 94,188,676 (GRCm39) |
V201A |
unknown |
Het |
| Mcrip2 |
T |
C |
17: 26,082,989 (GRCm39) |
E146G |
probably damaging |
Het |
| Micu2 |
T |
A |
14: 58,156,363 (GRCm39) |
I370F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,061,328 (GRCm39) |
V1416E |
probably damaging |
Het |
| Mup3 |
T |
C |
4: 62,003,540 (GRCm39) |
N110D |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,699,613 (GRCm39) |
D294N |
possibly damaging |
Het |
| Nphs2 |
G |
A |
1: 156,140,592 (GRCm39) |
A110T |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,563 (GRCm39) |
I78T |
possibly damaging |
Het |
| Or5t7 |
A |
G |
2: 86,506,831 (GRCm39) |
M282T |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,527,419 (GRCm39) |
|
probably null |
Het |
| Pgrmc2 |
G |
T |
3: 41,037,105 (GRCm39) |
R109S |
probably benign |
Het |
| Plb1 |
G |
A |
5: 32,439,079 (GRCm39) |
V214I |
probably damaging |
Het |
| Ppp2r5d |
C |
T |
17: 46,998,906 (GRCm39) |
S52N |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,718 (GRCm39) |
E1082* |
probably null |
Het |
| Skint3 |
A |
G |
4: 112,111,151 (GRCm39) |
E92G |
probably damaging |
Het |
| Slc12a1 |
C |
G |
2: 124,996,004 (GRCm39) |
N52K |
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,738,361 (GRCm39) |
Y458H |
probably damaging |
Het |
| Spsb3 |
C |
T |
17: 25,110,506 (GRCm39) |
P317S |
unknown |
Het |
| Ssc5d |
A |
T |
7: 4,930,919 (GRCm39) |
Q167L |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,328,454 (GRCm39) |
V340A |
probably damaging |
Het |
| Stag3 |
G |
A |
5: 138,296,296 (GRCm39) |
R453H |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,239 (GRCm39) |
F371I |
probably benign |
Het |
| Tas2r140 |
A |
C |
6: 133,032,181 (GRCm39) |
S192R |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,840 (GRCm39) |
I166V |
possibly damaging |
Het |
| Tgm3 |
C |
A |
2: 129,871,680 (GRCm39) |
Q269K |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 130,087,426 (GRCm39) |
C1181Y |
probably damaging |
Het |
| Tinag |
A |
T |
9: 76,934,296 (GRCm39) |
|
probably benign |
Het |
| Tnrc6b |
T |
C |
15: 80,763,179 (GRCm39) |
V227A |
possibly damaging |
Het |
| Tox3 |
A |
C |
8: 90,996,864 (GRCm39) |
L133R |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,639 (GRCm39) |
I923N |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,855,429 (GRCm39) |
V2498D |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 18,994,723 (GRCm39) |
|
probably null |
Het |
| Xylt2 |
T |
C |
11: 94,555,462 (GRCm39) |
D850G |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,964,321 (GRCm39) |
S184T |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp595 |
C |
A |
13: 67,468,989 (GRCm39) |
M12I |
probably benign |
Het |
| Zfp750 |
T |
C |
11: 121,403,149 (GRCm39) |
Q533R |
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 |
|
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 |
|
|
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'- GAGGCATGGCTGATGTAGATC -3'
(R):5'- GTCAGTTGACAGCACAAATCAG -3'
Sequencing Primer
(F):5'- AGATCATGTGTCTCTTCAACAGGG -3'
(R):5'- AGTTGTCCTAAATGTCTACCCACAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation