Incidental Mutation 'R1423:Mrtfb'
| ID |
161190 |
| 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 |
039479-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1423 (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 13230105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 930
(V930A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009713]
[ENSMUST00000149359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009713
AA Change: V941A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: V941A
| 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 |
possibly damaging
Transcript: ENSMUST00000149359
AA Change: V930A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: V930A
| 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 |
0.0804 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,988,896 (GRCm39) |
E691G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
| Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
| Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
| Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
| Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
| Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
| Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
| Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
| Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
| Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
| Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
| Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,392 (GRCm39) |
R1074H |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
| Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
| Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
| Riok1 |
T |
C |
13: 38,233,090 (GRCm39) |
M241T |
probably damaging |
Het |
| Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,488 (GRCm39) |
L9Q |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,757,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
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 |
|
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 |
|
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'- AGGTGACTTCAGCCTTGCGTTATTG -3'
(R):5'- GTCTAGCCACTCCATGTTGTCCAG -3'
Sequencing Primer
(F):5'- GCTCTCTCTGCCTCTAAGATGTAAG -3'
(R):5'- ATGACTCAGCAAGTCGTTCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation