Incidental Mutation 'R4088:Mrtfb'
| ID |
317486 |
| 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 |
040981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13202064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 120
(F120S)
|
| 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: F120S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: F120S
| 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: F109S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: F109S
| 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 |
0.0888 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (55/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
| Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
| Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
| Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
| Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Cyp2b9 |
T |
C |
7: 25,872,881 (GRCm39) |
L8P |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
| Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
| Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
| Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
| Map4k2 |
A |
T |
19: 6,403,186 (GRCm39) |
H763L |
probably damaging |
Het |
| Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
| Sf1 |
G |
A |
19: 6,418,470 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,505 (GRCm39) |
R204G |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
| Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
| Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
| Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
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 |
|
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'- GCAGTTCCCATTGCAGCTTC -3'
(R):5'- TGACGTTAGCATCTTAGTCAGATC -3'
Sequencing Primer
(F):5'- CATTGCAGCTTCAGTTCATGG -3'
(R):5'- TTTCTCCCAGAAGACTGAGGCTAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation