Incidental Mutation 'R5201:Mrtfb'
| ID |
400827 |
| 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 |
042776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13219456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 701
(T701P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009713]
[ENSMUST00000149359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009713
AA Change: T712P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: T712P
| 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: ENSMUST00000131985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149359
AA Change: T701P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: T701P
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
| Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
| Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
| Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
| Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
| Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
| Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
| Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
| Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
| Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
| Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
| Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
| Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
| Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
| Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
| Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
| Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
| Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
| Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
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 |
|
R3722:Mrtfb
|
UTSW |
16 |
13,203,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCAAGGATGAGGCCTCACTC -3'
(R):5'- GGCCTTCCAAAACTGTAGCC -3'
Sequencing Primer
(F):5'- AGTGCCTGGCCACTCTGTAG -3'
(R):5'- TGTAGCCCACAGTAGCTGCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation