Incidental Mutation 'R9447:Mctp1'
| ID |
714021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mctp1
|
| Ensembl Gene |
ENSMUSG00000021596 |
| Gene Name |
multiple C2 domains, transmembrane 1 |
| Synonyms |
2810465F10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76532259-77179929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76727904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 9
(S9G)
|
| 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
|
| 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 benign
Transcript: ENSMUST00000109589
AA Change: S9G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105218
Gene: ENSMUSG00000021596
AA Change: S9G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
40 |
137 |
1.15e-15 |
SMART |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000126960
AA Change: S9G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: S9G
| 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: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,651,051 (GRCm39) |
Y58N |
probably damaging |
Het |
| Ago4 |
G |
A |
4: 126,402,151 (GRCm39) |
P572S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,296,838 (GRCm39) |
I295V |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,323,297 (GRCm39) |
I1007K |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,715,822 (GRCm39) |
T196K |
|
Het |
| Cdrt4 |
T |
G |
11: 62,883,418 (GRCm39) |
L40R |
probably damaging |
Het |
| Cox16 |
A |
T |
12: 81,406,109 (GRCm39) |
C72S |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Daxx |
A |
T |
17: 34,132,247 (GRCm39) |
D497V |
unknown |
Het |
| Ddt |
A |
G |
10: 75,608,671 (GRCm39) |
V62A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,549,523 (GRCm39) |
V1294A |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,743 (GRCm39) |
T667A |
probably damaging |
Het |
| Dnase2a |
A |
C |
8: 85,635,786 (GRCm39) |
S90R |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,700,302 (GRCm39) |
V276A |
|
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Enpp6 |
A |
T |
8: 47,483,600 (GRCm39) |
R131W |
probably damaging |
Het |
| Epm2a |
C |
T |
10: 11,324,432 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Fcho1 |
A |
G |
8: 72,169,913 (GRCm39) |
L70P |
probably damaging |
Het |
| Fhip1b |
G |
T |
7: 105,034,155 (GRCm39) |
T492K |
probably benign |
Het |
| Fstl4 |
G |
T |
11: 53,077,166 (GRCm39) |
C641F |
probably damaging |
Het |
| Ganab |
C |
T |
19: 8,886,894 (GRCm39) |
H327Y |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,322 (GRCm39) |
Y164H |
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,074,195 (GRCm39) |
V318A |
possibly damaging |
Het |
| Hpf1 |
A |
G |
8: 61,348,618 (GRCm39) |
D111G |
probably damaging |
Het |
| Hs3st2 |
C |
T |
7: 120,992,289 (GRCm39) |
R113W |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,384,794 (GRCm39) |
L353Q |
|
Het |
| Krbox5 |
A |
G |
13: 67,981,953 (GRCm39) |
E55G |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,909,159 (GRCm39) |
D782G |
unknown |
Het |
| Lpin2 |
A |
G |
17: 71,539,087 (GRCm39) |
K392E |
unknown |
Het |
| Lrrc4 |
A |
G |
6: 28,830,650 (GRCm39) |
S322P |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,966,001 (GRCm39) |
V313A |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,969,525 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
C |
T |
15: 4,960,823 (GRCm39) |
A795V |
probably damaging |
Het |
| Ncf4 |
G |
T |
15: 78,146,499 (GRCm39) |
A310S |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,381 (GRCm39) |
Y69H |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,673 (GRCm39) |
F90L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,221,678 (GRCm39) |
F113L |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,180,540 (GRCm39) |
T282I |
probably benign |
Het |
| Or1e1d-ps1 |
G |
T |
11: 73,819,617 (GRCm39) |
C189F |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,321,857 (GRCm39) |
K310* |
probably null |
Het |
| Pcca |
T |
C |
14: 122,854,290 (GRCm39) |
V194A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,525,192 (GRCm39) |
Y900C |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,837 (GRCm39) |
D300G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,764,119 (GRCm39) |
Y451N |
probably damaging |
Het |
| Rnf181 |
G |
T |
6: 72,337,570 (GRCm39) |
T97K |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,084,162 (GRCm39) |
S114P |
probably benign |
Het |
| Siae |
C |
A |
9: 37,557,743 (GRCm39) |
Q517K |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,715,548 (GRCm39) |
V653D |
probably damaging |
Het |
| Sqor |
C |
A |
2: 122,649,520 (GRCm39) |
T359K |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,176,970 (GRCm39) |
*637R |
probably null |
Het |
| Tas2r109 |
A |
C |
6: 132,957,270 (GRCm39) |
M220R |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,748,445 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem8b |
T |
G |
4: 43,685,766 (GRCm39) |
L179R |
probably damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,608 (GRCm39) |
H179Q |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,148 (GRCm39) |
K1305N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,862 (GRCm39) |
W22677L |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,655 (GRCm39) |
V183A |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,464,124 (GRCm39) |
D208E |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,330 (GRCm39) |
N529I |
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,627 (GRCm39) |
N175S |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,338,950 (GRCm39) |
I397K |
probably damaging |
Het |
| Zfp821 |
G |
A |
8: 110,450,816 (GRCm39) |
V270I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,602,842 (GRCm39) |
V99A |
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 |
|
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 |
|
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'- TGGGTGGTATTTAAACCTCACTG -3'
(R):5'- GTGCAAAGCATTTGAAGCCC -3'
Sequencing Primer
(F):5'- ACTCTAAGTCTCTGCAGTTCAG -3'
(R):5'- TGCAAAGCATTTGAAGCCCAAAATAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation