Incidental Mutation 'R5991:Mtmr11'
| ID |
482149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtmr11
|
| Ensembl Gene |
ENSMUSG00000045934 |
| Gene Name |
myotubularin related protein 11 |
| Synonyms |
|
| MMRRC Submission |
044171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96069321-96079034 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 96075905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054356]
[ENSMUST00000054356]
[ENSMUST00000054356]
[ENSMUST00000054356]
[ENSMUST00000076372]
[ENSMUST00000129925]
[ENSMUST00000129925]
[ENSMUST00000129925]
[ENSMUST00000129925]
|
| AlphaFold |
Q3V1L6 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
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 |
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 |
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 |
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: ENSMUST00000154955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199721
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,777,032 (GRCm39) |
R683Q |
probably damaging |
Het |
| Adam8 |
T |
A |
7: 139,570,200 (GRCm39) |
H69L |
probably damaging |
Het |
| Bbs2 |
G |
T |
8: 94,824,914 (GRCm39) |
R23S |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,974,206 (GRCm39) |
C2369* |
probably null |
Het |
| Capn11 |
G |
T |
17: 45,970,278 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
G |
8: 106,418,023 (GRCm39) |
Q679R |
probably null |
Het |
| Cep120 |
T |
C |
18: 53,854,870 (GRCm39) |
I422V |
probably benign |
Het |
| Cnot7 |
A |
C |
8: 40,948,696 (GRCm39) |
|
probably null |
Het |
| Col1a1 |
T |
C |
11: 94,828,745 (GRCm39) |
V29A |
unknown |
Het |
| Dnttip1 |
A |
T |
2: 164,596,100 (GRCm39) |
Q115L |
possibly damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,857,188 (GRCm39) |
V497A |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,532,667 (GRCm39) |
D1635G |
unknown |
Het |
| Ercc5 |
T |
A |
1: 44,219,990 (GRCm39) |
C1087* |
probably null |
Het |
| Fap |
A |
T |
2: 62,348,865 (GRCm39) |
M517K |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,319,256 (GRCm39) |
D1574E |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,820,812 (GRCm39) |
P5515L |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,319 (GRCm39) |
Y85H |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,896,117 (GRCm39) |
V1222A |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,268,328 (GRCm39) |
M546I |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,270,395 (GRCm39) |
N371D |
possibly damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,008,741 (GRCm39) |
Y1262H |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,209 (GRCm39) |
E83G |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,954,800 (GRCm39) |
|
probably null |
Het |
| Myct1 |
A |
T |
10: 5,554,426 (GRCm39) |
R98* |
probably null |
Het |
| Nol11 |
T |
C |
11: 107,061,971 (GRCm39) |
T612A |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,507 (GRCm39) |
N293S |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,578 (GRCm39) |
K302* |
probably null |
Het |
| Or4c113 |
C |
T |
2: 88,885,126 (GRCm39) |
V215I |
probably benign |
Het |
| Or4f61 |
C |
T |
2: 111,922,960 (GRCm39) |
V29M |
probably benign |
Het |
| Or5m9 |
A |
G |
2: 85,877,254 (GRCm39) |
I143V |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,561 (GRCm39) |
S176P |
probably benign |
Het |
| Pdcd1lg2 |
C |
T |
19: 29,431,867 (GRCm39) |
R212W |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,576 (GRCm39) |
Y46C |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,526,820 (GRCm39) |
E1337K |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,804,035 (GRCm39) |
N584K |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,379,817 (GRCm39) |
V544A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,834,080 (GRCm39) |
T34M |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,443,790 (GRCm39) |
L270H |
probably damaging |
Het |
| Shoc2 |
T |
A |
19: 53,991,480 (GRCm39) |
N248K |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,385,818 (GRCm39) |
A28E |
probably benign |
Het |
| Slc25a4 |
T |
C |
8: 46,662,373 (GRCm39) |
Y95C |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,691,413 (GRCm39) |
N403S |
possibly damaging |
Het |
| Spink10 |
T |
A |
18: 62,790,956 (GRCm39) |
W7R |
probably null |
Het |
| Ssrp1 |
A |
G |
2: 84,872,640 (GRCm39) |
K426R |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,428,043 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
T |
17: 28,553,352 (GRCm39) |
|
probably null |
Het |
| Timd4 |
A |
G |
11: 46,734,030 (GRCm39) |
*344W |
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,339,312 (GRCm39) |
W115R |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,916,733 (GRCm39) |
T65I |
probably damaging |
Het |
| Vmn1r12 |
G |
C |
6: 57,136,640 (GRCm39) |
V202L |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,423 (GRCm39) |
T178A |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,002,266 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GCTTTCTCTGTGACAATGGCTG -3'
(R):5'- GTAATGTTAACCCACTCCAGACAG -3'
Sequencing Primer
(F):5'- CAATGGCTGTTTCTAGAAGTTGACTC -3'
(R):5'- AAAGTGTCCTCACCTCCTCACTG -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation