Incidental Mutation 'R4461:Mtmr11'
| ID |
330134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr11
|
| Ensembl Gene |
ENSMUSG00000045934 |
| Gene Name |
myotubularin related protein 11 |
| Synonyms |
|
| MMRRC Submission |
041720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4461 (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% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
T |
C |
17: 66,292,932 (GRCm39) |
|
probably null |
Het |
| Apex1 |
T |
C |
14: 51,163,970 (GRCm39) |
V165A |
probably damaging |
Het |
| Btbd17 |
C |
T |
11: 114,684,815 (GRCm39) |
D75N |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,190,622 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
T |
C |
10: 128,200,347 (GRCm39) |
N138S |
possibly damaging |
Het |
| Ctbp1 |
A |
T |
5: 33,408,357 (GRCm39) |
Y192N |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,507,184 (GRCm39) |
*396W |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,299 (GRCm39) |
I154T |
unknown |
Het |
| Dao |
T |
A |
5: 114,157,987 (GRCm39) |
V203E |
probably damaging |
Het |
| Egr4 |
G |
A |
6: 85,489,322 (GRCm39) |
A246V |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,497 (GRCm39) |
V114E |
possibly damaging |
Het |
| Hpgds |
A |
G |
6: 65,100,618 (GRCm39) |
L120P |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,193,659 (GRCm39) |
V464I |
probably benign |
Het |
| Kank2 |
G |
A |
9: 21,706,041 (GRCm39) |
Q326* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,726,612 (GRCm39) |
S464P |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,760,263 (GRCm39) |
Y529H |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,874 (GRCm39) |
V3478A |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,890,080 (GRCm39) |
N44T |
probably benign |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,355,180 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,554,827 (GRCm39) |
P180S |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,089,359 (GRCm39) |
M1352K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,822,531 (GRCm39) |
S547T |
probably benign |
Het |
| Pik3c2g |
C |
T |
6: 139,787,407 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,359,345 (GRCm39) |
|
probably null |
Het |
| Pzp |
T |
C |
6: 128,501,003 (GRCm39) |
I118M |
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,537,123 (GRCm39) |
D536Y |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Siglece |
T |
C |
7: 43,300,929 (GRCm39) |
Q462R |
probably benign |
Het |
| Sirt3 |
T |
C |
7: 140,444,913 (GRCm39) |
D295G |
possibly damaging |
Het |
| Snph |
G |
A |
2: 151,435,767 (GRCm39) |
S318L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,731 (GRCm39) |
T401A |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,028,875 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
C |
17: 84,733,665 (GRCm39) |
Y994C |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,425,778 (GRCm39) |
N531D |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,196,916 (GRCm39) |
V477A |
probably benign |
Het |
| Ubxn10 |
T |
A |
4: 138,448,187 (GRCm39) |
Q163L |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,985,950 (GRCm39) |
I908N |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zscan12 |
C |
T |
13: 21,550,789 (GRCm39) |
S136L |
possibly 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 |
|
|
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 |
2015-07-21 |
Incidental Mutation