Incidental Mutation 'R4245:Mtmr11'
ID |
320374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr11
|
Ensembl Gene |
ENSMUSG00000045934 |
Gene Name |
myotubularin related protein 11 |
Synonyms |
|
MMRRC Submission |
041061-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R4245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96069321-96079034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96075393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 358
(C358S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054356]
[ENSMUST00000076372]
[ENSMUST00000129925]
|
AlphaFold |
Q3V1L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054356
AA Change: C358S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062341 Gene: ENSMUSG00000045934 AA Change: C358S
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
191 |
323 |
1.7e-12 |
PFAM |
Pfam:Myotub-related
|
312 |
488 |
1.3e-44 |
PFAM |
Pfam:3-PAP
|
550 |
683 |
2.3e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076372
|
SMART Domains |
Protein: ENSMUSP00000075709 Gene: ENSMUSG00000068856
Domain | Start | End | E-Value | Type |
RRM
|
14 |
87 |
1.46e-25 |
SMART |
RRM
|
101 |
175 |
5.07e-25 |
SMART |
low complexity region
|
214 |
307 |
N/A |
INTRINSIC |
low complexity region
|
310 |
423 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123520
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129925
|
SMART Domains |
Protein: ENSMUSP00000118258 Gene: ENSMUSG00000045934
Domain | Start | End | E-Value | Type |
Pfam:Myotub-related
|
162 |
264 |
4.2e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196004
|
Meta Mutation Damage Score |
0.2939 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
Acacb |
A |
T |
5: 114,368,845 (GRCm39) |
T1688S |
probably damaging |
Het |
Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
C8a |
A |
G |
4: 104,733,543 (GRCm39) |
V4A |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
Ccdc184 |
T |
A |
15: 98,066,750 (GRCm39) |
|
probably null |
Het |
Cdc23 |
T |
C |
18: 34,770,100 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,219,335 (GRCm39) |
N51S |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,505,920 (GRCm39) |
I460T |
probably benign |
Het |
Fen1 |
T |
A |
19: 10,177,731 (GRCm39) |
I238F |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gm5493 |
A |
G |
17: 22,966,199 (GRCm39) |
E28G |
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
Mpeg1 |
C |
A |
19: 12,440,272 (GRCm39) |
Q577K |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,348,047 (GRCm39) |
S564P |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
Ndufs6 |
A |
T |
13: 73,468,512 (GRCm39) |
D62E |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,708,604 (GRCm39) |
Y257H |
probably damaging |
Het |
Or7e178 |
T |
C |
9: 20,225,629 (GRCm39) |
I196V |
possibly damaging |
Het |
Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk2 |
C |
T |
15: 73,103,825 (GRCm39) |
G749D |
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,007,518 (GRCm39) |
D222V |
probably damaging |
Het |
Radil |
T |
C |
5: 142,529,546 (GRCm39) |
D50G |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
Sf3a1 |
C |
T |
11: 4,117,774 (GRCm39) |
R179C |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,721,161 (GRCm39) |
N1340D |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,928,685 (GRCm39) |
E309G |
probably damaging |
Het |
Tg |
T |
C |
15: 66,568,318 (GRCm39) |
V1335A |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
Vill |
T |
A |
9: 118,900,359 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,624 (GRCm39) |
D341G |
possibly damaging |
Het |
Wdr59 |
T |
C |
8: 112,216,996 (GRCm39) |
N272D |
possibly damaging |
Het |
Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
Zfp985 |
A |
G |
4: 147,667,396 (GRCm39) |
K88R |
probably damaging |
Het |
Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mtmr11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02539:Mtmr11
|
APN |
3 |
96,072,308 (GRCm39) |
intron |
probably benign |
|
R1017:Mtmr11
|
UTSW |
3 |
96,071,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Mtmr11
|
UTSW |
3 |
96,075,429 (GRCm39) |
missense |
probably benign |
0.16 |
R1836:Mtmr11
|
UTSW |
3 |
96,072,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R2264:Mtmr11
|
UTSW |
3 |
96,076,413 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3623:Mtmr11
|
UTSW |
3 |
96,072,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R4195:Mtmr11
|
UTSW |
3 |
96,075,207 (GRCm39) |
splice site |
probably benign |
|
R4243:Mtmr11
|
UTSW |
3 |
96,075,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4414:Mtmr11
|
UTSW |
3 |
96,075,207 (GRCm39) |
splice site |
probably benign |
|
R4417:Mtmr11
|
UTSW |
3 |
96,075,207 (GRCm39) |
splice site |
probably benign |
|
R4461:Mtmr11
|
UTSW |
3 |
96,075,207 (GRCm39) |
splice site |
probably benign |
|
R4468:Mtmr11
|
UTSW |
3 |
96,075,207 (GRCm39) |
splice site |
probably benign |
|
R4963:Mtmr11
|
UTSW |
3 |
96,070,567 (GRCm39) |
intron |
probably benign |
|
R5134:Mtmr11
|
UTSW |
3 |
96,077,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R5154:Mtmr11
|
UTSW |
3 |
96,071,636 (GRCm39) |
missense |
probably benign |
0.03 |
R5508:Mtmr11
|
UTSW |
3 |
96,071,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R5821:Mtmr11
|
UTSW |
3 |
96,075,185 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5868:Mtmr11
|
UTSW |
3 |
96,078,518 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5991:Mtmr11
|
UTSW |
3 |
96,075,905 (GRCm39) |
splice site |
probably null |
|
R6084:Mtmr11
|
UTSW |
3 |
96,075,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R6354:Mtmr11
|
UTSW |
3 |
96,075,992 (GRCm39) |
missense |
probably benign |
0.07 |
R6446:Mtmr11
|
UTSW |
3 |
96,078,504 (GRCm39) |
missense |
probably benign |
0.00 |
R6821:Mtmr11
|
UTSW |
3 |
96,077,723 (GRCm39) |
missense |
probably benign |
|
R7033:Mtmr11
|
UTSW |
3 |
96,077,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7312:Mtmr11
|
UTSW |
3 |
96,071,855 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7878:Mtmr11
|
UTSW |
3 |
96,076,515 (GRCm39) |
missense |
probably benign |
0.00 |
R7899:Mtmr11
|
UTSW |
3 |
96,077,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Mtmr11
|
UTSW |
3 |
96,071,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R8923:Mtmr11
|
UTSW |
3 |
96,072,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9376:Mtmr11
|
UTSW |
3 |
96,072,372 (GRCm39) |
missense |
probably benign |
|
R9708:Mtmr11
|
UTSW |
3 |
96,076,403 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0019:Mtmr11
|
UTSW |
3 |
96,071,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTATGTCAGGTATGCCTAGCC -3'
(R):5'- AGGATGAATTGGCACTCACAGG -3'
Sequencing Primer
(F):5'- AGGTATGCCTAGCCTTCTAATCATGG -3'
(R):5'- TTGGCACTCACAGGAAGATGC -3'
|
Posted On |
2015-06-12 |