Incidental Mutation 'R6484:Mctp1'
| ID |
517271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
044616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6484 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76836744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 104
(I104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000109589]
[ENSMUST00000125209]
[ENSMUST00000126960]
|
| AlphaFold |
E9PV86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109583
AA Change: I67V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: I67V
| 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 benign
Transcript: ENSMUST00000109589
AA Change: I104V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105218
Gene: ENSMUSG00000021596
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125209
AA Change: I324V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: I324V
| 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 benign
Transcript: ENSMUST00000126960
AA Change: I104V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: I104V
| 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: ENSMUST00000178439
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
| Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
| Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
| Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
| Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
| Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
| Dthd1 |
A |
G |
5: 62,971,675 (GRCm39) |
N166S |
probably benign |
Het |
| Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
| Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
| Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
| Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
| Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
| Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
| Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
| Or5b105 |
A |
G |
19: 13,080,431 (GRCm39) |
V79A |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
| Poln |
C |
T |
5: 34,286,857 (GRCm39) |
A104T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
| Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
| Rcbtb2 |
A |
T |
14: 73,414,490 (GRCm39) |
S434C |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
| Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
| Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
| Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
| Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
| Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
| Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
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 |
|
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 |
|
|
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'- AGGCATGGCTGATGTAGATCATG -3'
(R):5'- GGTCAGTTGACAGCACAAATCAG -3'
Sequencing Primer
(F):5'- AGATCATGTGTCTCTTCAACAGGG -3'
(R):5'- AGTTGTCCTAAATGTCTACCCACAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation