Incidental Mutation 'R4468:Mtmr11'
ID |
329266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtmr11
|
Ensembl Gene |
ENSMUSG00000045934 |
Gene Name |
myotubularin related protein 11 |
Synonyms |
|
MMRRC Submission |
041725-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R4468 (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: ENSMUST00000153977
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199721
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
probably damaging |
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 |
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 |
|
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 |
2015-07-21 |