Incidental Mutation 'R4195:Mtmr11'
| ID |
318525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr11
|
| Ensembl Gene |
ENSMUSG00000045934 |
| Gene Name |
myotubularin related protein 11 |
| Synonyms |
|
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4195 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
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 |
|
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 |
|
|
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 |
2015-06-10 |
Incidental Mutation