Incidental Mutation 'R8034:Mctp1'
| ID |
618144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
067471-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 77039670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 783
(L783F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109583]
[ENSMUST00000125209]
|
| AlphaFold |
E9PV86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109583
AA Change: L526F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: L526F
| 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: L783F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: L783F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,031,554 (GRCm39) |
Y391* |
probably null |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
A |
G |
16: 44,943,238 (GRCm39) |
I783V |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
| Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
| Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,449,281 (GRCm39) |
F41L |
probably benign |
Het |
| Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
| Fuz |
T |
C |
7: 44,545,684 (GRCm39) |
M1T |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
| Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
| Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
| Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
| Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
| Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
| Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
| Pex6 |
G |
C |
17: 47,033,325 (GRCm39) |
G616A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
| Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
| Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
| Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
| Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
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 |
|
|
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 |
|
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'- TTGCCAGTGACTTTCCAGGAG -3'
(R):5'- CTCCAAAGTTGAATATTGACAGGC -3'
Sequencing Primer
(F):5'- ACTTTCCAGGAGTCAGATGTGC -3'
(R):5'- ACAGGCAAGTTTCTGGTTTATAAGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation