Incidental Mutation 'R3722:Mrtfb'
| ID |
258994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrtfb
|
| Ensembl Gene |
ENSMUSG00000009569 |
| Gene Name |
myocardin related transcription factor B |
| Synonyms |
Mkl2, Gt4-1, Mrtfb, MRTF-B |
| MMRRC Submission |
040713-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3722 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13203557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 201
(A201V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009713]
[ENSMUST00000149359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009713
AA Change: A201V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: A201V
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
51 |
76 |
9.67e-5 |
SMART |
|
RPEL
|
95 |
120 |
2.22e-4 |
SMART |
|
RPEL
|
139 |
164 |
1.56e-8 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
381 |
N/A |
INTRINSIC |
|
SAP
|
394 |
428 |
1.29e-8 |
SMART |
|
low complexity region
|
495 |
510 |
N/A |
INTRINSIC |
|
coiled coil region
|
552 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
1039 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1074 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149359
AA Change: A190V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: A190V
| Domain | Start | End | E-Value | Type |
|---|
|
RPEL
|
40 |
65 |
4.51e-5 |
SMART |
|
RPEL
|
84 |
109 |
2.22e-4 |
SMART |
|
RPEL
|
128 |
153 |
1.56e-8 |
SMART |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
370 |
N/A |
INTRINSIC |
|
SAP
|
383 |
417 |
1.29e-8 |
SMART |
|
low complexity region
|
484 |
499 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1039 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1063 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210378
|
| Meta Mutation Damage Score |
0.3267 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for knock-out alleles exhibit prenatal lethality with widespread hemorrhaging, cardiovascular defects, and craniofacial anomalies. Mice homozygous for a gene trap allele exhibit fetal lethality due to cardiac outflow tractdefects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,216,254 (GRCm39) |
S1485T |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,120,351 (GRCm39) |
Y3589C |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,385,153 (GRCm39) |
Y482H |
probably damaging |
Het |
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,855,102 (GRCm39) |
E1420G |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,621,997 (GRCm39) |
Y419F |
probably benign |
Het |
| Atg7 |
A |
G |
6: 114,672,624 (GRCm39) |
Y279C |
probably damaging |
Het |
| Braf |
G |
A |
6: 39,600,610 (GRCm39) |
P616L |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,109 (GRCm39) |
M88T |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,557,620 (GRCm39) |
Y586N |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,996,780 (GRCm39) |
F127S |
possibly damaging |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cox8b |
T |
A |
7: 140,478,918 (GRCm39) |
K66* |
probably null |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,500 (GRCm39) |
L204P |
probably damaging |
Het |
| Fam170a |
C |
T |
18: 50,415,271 (GRCm39) |
P306S |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,268 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
T |
A |
14: 72,777,648 (GRCm39) |
I1186F |
probably benign |
Het |
| Gm12886 |
T |
A |
4: 121,274,667 (GRCm39) |
D71V |
probably damaging |
Het |
| H3c8 |
T |
C |
13: 23,719,722 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ica1 |
A |
G |
6: 8,659,021 (GRCm39) |
|
probably benign |
Het |
| Ighv8-11 |
A |
G |
12: 115,530,771 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ism1 |
A |
T |
2: 139,573,931 (GRCm39) |
R94* |
probably null |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kcnk15 |
T |
C |
2: 163,700,214 (GRCm39) |
L132P |
probably damaging |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Ncstn |
G |
A |
1: 171,895,462 (GRCm39) |
T562M |
possibly damaging |
Het |
| Nudt4 |
A |
T |
10: 95,385,367 (GRCm39) |
|
probably null |
Het |
| Omp |
T |
C |
7: 97,794,420 (GRCm39) |
N69S |
probably benign |
Het |
| Or10d3 |
A |
C |
9: 39,461,418 (GRCm39) |
C250G |
probably damaging |
Het |
| Or4a75 |
A |
T |
2: 89,448,503 (GRCm39) |
I11N |
possibly damaging |
Het |
| Pak1 |
C |
T |
7: 97,503,704 (GRCm39) |
P13L |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,087,866 (GRCm39) |
C744* |
probably null |
Het |
| Pelp1 |
T |
C |
11: 70,289,026 (GRCm39) |
Y240C |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,619 (GRCm39) |
D353G |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,724,485 (GRCm39) |
F1152S |
probably damaging |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rpn1 |
G |
A |
6: 88,067,282 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
A |
13: 38,131,074 (GRCm39) |
D1409E |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,200,323 (GRCm39) |
H668Y |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,321 (GRCm39) |
K187E |
possibly damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,254,273 (GRCm39) |
I212F |
possibly damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Snapc4 |
A |
G |
2: 26,255,440 (GRCm39) |
L1028P |
probably benign |
Het |
| Snrnp40 |
C |
T |
4: 130,262,068 (GRCm39) |
T152I |
possibly damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,851,472 (GRCm39) |
E228G |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,437,566 (GRCm39) |
W203* |
probably null |
Het |
| Tmcc1 |
T |
C |
6: 116,110,783 (GRCm39) |
E170G |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,024,747 (GRCm39) |
N46D |
probably benign |
Het |
| Txk |
T |
A |
5: 72,865,078 (GRCm39) |
K266* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,278,930 (GRCm39) |
E859G |
probably damaging |
Het |
| Uros |
A |
T |
7: 133,304,120 (GRCm39) |
M1K |
probably null |
Het |
| Vps13b |
T |
A |
15: 35,671,528 (GRCm39) |
I1677N |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,994,863 (GRCm39) |
|
probably null |
Het |
| Zfp760 |
A |
G |
17: 21,941,143 (GRCm39) |
Y106C |
probably damaging |
Het |
|
| Other mutations in Mrtfb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Mrtfb
|
APN |
16 |
13,221,089 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00546:Mrtfb
|
APN |
16 |
13,221,086 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01325:Mrtfb
|
APN |
16 |
13,219,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Mrtfb
|
APN |
16 |
13,218,047 (GRCm39) |
splice site |
probably null |
|
|
IGL02803:Mrtfb
|
APN |
16 |
13,221,020 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03143:Mrtfb
|
APN |
16 |
13,218,676 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03180:Mrtfb
|
APN |
16 |
13,216,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Mrtfb
|
UTSW |
16 |
13,230,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Mrtfb
|
UTSW |
16 |
13,230,390 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0540:Mrtfb
|
UTSW |
16 |
13,199,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Mrtfb
|
UTSW |
16 |
13,199,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Mrtfb
|
UTSW |
16 |
13,230,182 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1423:Mrtfb
|
UTSW |
16 |
13,230,105 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1432:Mrtfb
|
UTSW |
16 |
13,218,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1459:Mrtfb
|
UTSW |
16 |
13,219,433 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1693:Mrtfb
|
UTSW |
16 |
13,216,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1693:Mrtfb
|
UTSW |
16 |
13,216,334 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2006:Mrtfb
|
UTSW |
16 |
13,199,440 (GRCm39) |
nonsense |
probably null |
|
|
R2076:Mrtfb
|
UTSW |
16 |
13,219,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:Mrtfb
|
UTSW |
16 |
13,218,668 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2145:Mrtfb
|
UTSW |
16 |
13,230,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3883:Mrtfb
|
UTSW |
16 |
13,219,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4088:Mrtfb
|
UTSW |
16 |
13,202,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4204:Mrtfb
|
UTSW |
16 |
13,221,119 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4301:Mrtfb
|
UTSW |
16 |
13,216,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Mrtfb
|
UTSW |
16 |
13,150,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Mrtfb
|
UTSW |
16 |
13,197,737 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4765:Mrtfb
|
UTSW |
16 |
13,230,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Mrtfb
|
UTSW |
16 |
13,219,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5403:Mrtfb
|
UTSW |
16 |
13,218,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5725:Mrtfb
|
UTSW |
16 |
13,202,174 (GRCm39) |
nonsense |
probably null |
|
|
R6511:Mrtfb
|
UTSW |
16 |
13,197,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Mrtfb
|
UTSW |
16 |
13,144,300 (GRCm39) |
missense |
probably benign |
|
|
R7269:Mrtfb
|
UTSW |
16 |
13,218,898 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7311:Mrtfb
|
UTSW |
16 |
13,223,718 (GRCm39) |
nonsense |
probably null |
|
|
R7460:Mrtfb
|
UTSW |
16 |
13,218,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8480:Mrtfb
|
UTSW |
16 |
13,202,056 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9032:Mrtfb
|
UTSW |
16 |
13,230,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Mrtfb
|
UTSW |
16 |
13,230,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Mrtfb
|
UTSW |
16 |
13,221,053 (GRCm39) |
missense |
probably benign |
|
|
R9229:Mrtfb
|
UTSW |
16 |
13,230,185 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9298:Mrtfb
|
UTSW |
16 |
13,202,082 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9310:Mrtfb
|
UTSW |
16 |
13,218,954 (GRCm39) |
missense |
probably benign |
|
|
R9343:Mrtfb
|
UTSW |
16 |
13,218,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9436:Mrtfb
|
UTSW |
16 |
13,223,151 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mrtfb
|
UTSW |
16 |
13,203,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAAAGAGTGCATGATAGCAG -3'
(R):5'- GTGTTTGGCTCACACGTAGGAAG -3'
Sequencing Primer
(F):5'- ATGATAGCAGTGTGGCTCCC -3'
(R):5'- TTAGGAAGGTCTTACCTGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation