Incidental Mutation 'R4414:Mtmr11'
ID |
328053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr11
|
Ensembl Gene |
ENSMUSG00000045934 |
Gene Name |
myotubularin related protein 11 |
Synonyms |
|
MMRRC Submission |
041694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R4414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96069321-96079034 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 96075207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054356]
[ENSMUST00000076372]
[ENSMUST00000129925]
|
AlphaFold |
Q3V1L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054356
|
SMART Domains |
Protein: ENSMUSP00000062341 Gene: ENSMUSG00000045934
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: ENSMUST00000180958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199721
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
probably benign |
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 |
R4245:Mtmr11
|
UTSW |
3 |
96,075,393 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AACCAGACTTCTTATCCCATCTG -3'
(R):5'- CTGGAAGGGCGTGTGATGA -3'
Sequencing Primer
(F):5'- CATAGTCAGCTGCTGTGGACAATC -3'
(R):5'- TGATGAAGAAGGGAGTAATGTATTGG -3'
|
Posted On |
2015-07-07 |