Incidental Mutation 'R4417:Mtmr11'
| ID |
326870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr11
|
| Ensembl Gene |
ENSMUSG00000045934 |
| Gene Name |
myotubularin related protein 11 |
| Synonyms |
|
| MMRRC Submission |
041138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4417 (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: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
| Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
| BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
| Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
| Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
| Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
| Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
| Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
| Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
| Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
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 |
|
|
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'- CTGGAAGGGCGTGTGATGAA -3'
Sequencing Primer
(F):5'- CATAGTCAGCTGCTGTGGACAATC -3'
(R):5'- TGATGAAGAAGGGAGTAATGTATTGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation