Incidental Mutation 'R4307:Mrtfa'
| ID |
324072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrtfa
|
| Ensembl Gene |
ENSMUSG00000042292 |
| Gene Name |
myocardin related transcription factor A |
| Synonyms |
Mal, Bsac, Mkl1, MRTF-A |
| MMRRC Submission |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.663)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80896482-81074937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80900548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 648
(L648F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109579]
[ENSMUST00000131235]
[ENSMUST00000134469]
[ENSMUST00000135047]
[ENSMUST00000149582]
[ENSMUST00000139517]
|
| AlphaFold |
Q8K4J6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109579
AA Change: L683F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292
AA Change: L683F
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
15 |
40 |
2.17e-7 |
SMART |
|
RPEL
|
59 |
84 |
1.36e-8 |
SMART |
|
RPEL
|
103 |
128 |
1.03e-8 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
|
SAP
|
385 |
419 |
4.98e-10 |
SMART |
|
low complexity region
|
424 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
coiled coil region
|
558 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124845
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131235
AA Change: L598F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292
AA Change: L598F
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
|
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
280 |
N/A |
INTRINSIC |
|
SAP
|
300 |
334 |
4.98e-10 |
SMART |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132039
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134469
AA Change: L648F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292
AA Change: L648F
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
|
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
SAP
|
350 |
384 |
4.98e-10 |
SMART |
|
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135047
AA Change: L648F
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292
AA Change: L648F
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
|
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
SAP
|
350 |
384 |
4.98e-10 |
SMART |
|
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149582
AA Change: L648F
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292
AA Change: L648F
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
24 |
49 |
1.36e-8 |
SMART |
|
RPEL
|
68 |
93 |
1.03e-8 |
SMART |
|
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
SAP
|
350 |
384 |
4.98e-10 |
SMART |
|
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
461 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139517
|
| SMART Domains |
Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
111 |
328 |
3.6e-62 |
SMART |
|
low complexity region
|
381 |
391 |
N/A |
INTRINSIC |
|
SH3
|
483 |
538 |
6.34e-19 |
SMART |
|
RUN
|
654 |
716 |
1.29e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired mammary myoepithelial cell differentiation and fail to eject milk and productively nurse their offspring. Mice homozygous for another null allele show partial embryonic lethality caused by myocardial necrosis as well as mammary gland dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,573,792 (GRCm39) |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,531,649 (GRCm39) |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,512,744 (GRCm39) |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,237 (GRCm39) |
E504G |
probably damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,712 (GRCm39) |
Q349* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,585,517 (GRCm39) |
*68W |
probably null |
Het |
| Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,154,879 (GRCm39) |
S333P |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,769,102 (GRCm39) |
Y481D |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,937 (GRCm39) |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 95,960,756 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,140,444 (GRCm39) |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,633,174 (GRCm39) |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,099 (GRCm39) |
S1597T |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,869,093 (GRCm39) |
H560Q |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,707,481 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,649 (GRCm39) |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,423 (GRCm39) |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,707 (GRCm39) |
F80I |
probably damaging |
Het |
|
| Other mutations in Mrtfa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Mrtfa
|
APN |
15 |
80,900,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Mrtfa
|
APN |
15 |
80,988,994 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03060:Mrtfa
|
APN |
15 |
80,929,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Betcha
|
UTSW |
15 |
80,902,649 (GRCm39) |
nonsense |
probably null |
|
|
R0594:Mrtfa
|
UTSW |
15 |
80,901,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Mrtfa
|
UTSW |
15 |
80,901,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1085:Mrtfa
|
UTSW |
15 |
80,905,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Mrtfa
|
UTSW |
15 |
80,902,409 (GRCm39) |
splice site |
probably benign |
|
|
R4030:Mrtfa
|
UTSW |
15 |
80,899,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4232:Mrtfa
|
UTSW |
15 |
80,907,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Mrtfa
|
UTSW |
15 |
80,905,124 (GRCm39) |
nonsense |
probably null |
|
|
R4795:Mrtfa
|
UTSW |
15 |
80,901,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4796:Mrtfa
|
UTSW |
15 |
80,901,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4801:Mrtfa
|
UTSW |
15 |
80,989,000 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4802:Mrtfa
|
UTSW |
15 |
80,989,000 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4899:Mrtfa
|
UTSW |
15 |
80,902,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Mrtfa
|
UTSW |
15 |
80,929,476 (GRCm39) |
splice site |
probably benign |
|
|
R5071:Mrtfa
|
UTSW |
15 |
80,906,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Mrtfa
|
UTSW |
15 |
80,906,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Mrtfa
|
UTSW |
15 |
80,906,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Mrtfa
|
UTSW |
15 |
80,906,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Mrtfa
|
UTSW |
15 |
80,900,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Mrtfa
|
UTSW |
15 |
80,897,917 (GRCm39) |
missense |
probably benign |
|
|
R6581:Mrtfa
|
UTSW |
15 |
80,900,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Mrtfa
|
UTSW |
15 |
80,902,649 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Mrtfa
|
UTSW |
15 |
80,902,274 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8834:Mrtfa
|
UTSW |
15 |
80,904,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9742:Mrtfa
|
UTSW |
15 |
80,901,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF023:Mrtfa
|
UTSW |
15 |
80,900,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Mrtfa
|
UTSW |
15 |
80,902,456 (GRCm39) |
small deletion |
probably benign |
|
|
X0013:Mrtfa
|
UTSW |
15 |
80,906,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTGCAGAAGACAGTGTTC -3'
(R):5'- TGGTTTCTCCAGTTGCCAGC -3'
Sequencing Primer
(F):5'- GCCTGCAGAAGACAGTGTTCAATTC -3'
(R):5'- TCTCCAGTTGCCAGCTGAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation