Incidental Mutation 'R9298:Mrtfb'
ID |
704751 |
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 |
068963-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9298 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13202082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 115
(Q115R)
|
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: Q126R
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000009713 Gene: ENSMUSG00000009569 AA Change: Q126R
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 |
probably benign
Transcript: ENSMUST00000149359
AA Change: Q115R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122815 Gene: ENSMUSG00000009569 AA Change: Q115R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
C |
A |
8: 73,198,923 (GRCm39) |
A110D |
probably benign |
Het |
4930407I10Rik |
A |
G |
15: 81,947,615 (GRCm39) |
E504G |
probably benign |
Het |
Apbb2 |
T |
C |
5: 66,609,018 (GRCm39) |
K210E |
probably benign |
Het |
Arhgef37 |
G |
T |
18: 61,651,072 (GRCm39) |
A151D |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,964,114 (GRCm39) |
Y895C |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,560,600 (GRCm39) |
I864V |
possibly damaging |
Het |
Cdhr17 |
T |
A |
5: 16,996,855 (GRCm39) |
C10* |
probably null |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Col18a1 |
G |
A |
10: 76,893,204 (GRCm39) |
T1057M |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
G |
9: 105,945,534 (GRCm39) |
I860T |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,617,187 (GRCm39) |
H1000Q |
|
Het |
Cyp4a29 |
T |
A |
4: 115,108,395 (GRCm39) |
M373K |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,333,173 (GRCm39) |
E215G |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,597,087 (GRCm39) |
E1972G |
probably damaging |
Het |
Dusp19 |
T |
C |
2: 80,447,729 (GRCm39) |
M1T |
probably null |
Het |
Eif4b |
A |
G |
15: 101,990,449 (GRCm39) |
T18A |
possibly damaging |
Het |
Exosc6 |
G |
A |
8: 111,783,513 (GRCm39) |
A171T |
probably damaging |
Het |
Fau |
G |
A |
19: 6,108,297 (GRCm39) |
R6H |
probably benign |
Het |
Flrt3 |
T |
C |
2: 140,501,879 (GRCm39) |
D583G |
probably damaging |
Het |
Fpgt |
A |
T |
3: 154,792,695 (GRCm39) |
L444* |
probably null |
Het |
Gm10226 |
A |
G |
17: 21,910,768 (GRCm39) |
E1G |
probably null |
Het |
Gm14443 |
A |
T |
2: 175,011,869 (GRCm39) |
C192* |
probably null |
Het |
Gm4353 |
T |
A |
7: 115,682,843 (GRCm39) |
N246I |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,926,327 (GRCm39) |
L41P |
probably benign |
Het |
Iigp1 |
T |
G |
18: 60,523,063 (GRCm39) |
D60E |
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,353,035 (GRCm39) |
V248D |
probably damaging |
Het |
Kctd14 |
A |
G |
7: 97,107,243 (GRCm39) |
K166R |
probably benign |
Het |
Kdm4d |
G |
A |
9: 14,375,336 (GRCm39) |
T174M |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,528,493 (GRCm39) |
|
probably null |
Het |
Maz |
CGCGGCCTCGGCGGCTGGTGCGG |
CGCGG |
7: 126,625,075 (GRCm39) |
|
probably benign |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Or10a5 |
A |
T |
7: 106,635,640 (GRCm39) |
I93F |
probably damaging |
Het |
Or2h1b |
A |
T |
17: 37,462,572 (GRCm39) |
V97D |
probably damaging |
Het |
Or5b95 |
T |
A |
19: 12,658,190 (GRCm39) |
C239* |
probably null |
Het |
Pigc |
C |
T |
1: 161,798,032 (GRCm39) |
R5C |
probably benign |
Het |
Plekhm2 |
C |
A |
4: 141,356,829 (GRCm39) |
M771I |
probably benign |
Het |
Runx1 |
T |
A |
16: 92,441,147 (GRCm39) |
T221S |
possibly damaging |
Het |
S100pbp |
A |
G |
4: 129,044,847 (GRCm39) |
Y363H |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,619,040 (GRCm39) |
T523A |
probably benign |
Het |
Slc38a8 |
A |
G |
8: 120,212,851 (GRCm39) |
F270S |
possibly damaging |
Het |
Slc4a1ap |
T |
C |
5: 31,693,538 (GRCm39) |
S491P |
probably damaging |
Het |
Slc66a2 |
T |
C |
18: 80,300,300 (GRCm39) |
L57P |
probably damaging |
Het |
Slc7a6 |
T |
C |
8: 106,922,534 (GRCm39) |
V440A |
probably damaging |
Het |
Sobp |
A |
T |
10: 42,898,902 (GRCm39) |
C228S |
probably damaging |
Het |
Svop |
G |
A |
5: 114,168,231 (GRCm39) |
T456M |
probably benign |
Het |
Synrg |
A |
G |
11: 83,900,278 (GRCm39) |
D750G |
probably damaging |
Het |
Syt14 |
C |
A |
1: 192,612,944 (GRCm39) |
E336* |
probably null |
Het |
Tcp11l1 |
C |
T |
2: 104,528,897 (GRCm39) |
V134I |
possibly damaging |
Het |
Tex51 |
T |
C |
18: 32,594,029 (GRCm39) |
R110G |
possibly damaging |
Het |
Tle3 |
T |
A |
9: 61,319,562 (GRCm39) |
H443Q |
possibly damaging |
Het |
Unc13a |
C |
T |
8: 72,108,335 (GRCm39) |
R506Q |
possibly damaging |
Het |
Vmn1r121 |
A |
C |
7: 20,832,344 (GRCm39) |
V32G |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,580,714 (GRCm39) |
F246L |
probably benign |
Het |
Zfp672 |
A |
T |
11: 58,220,590 (GRCm39) |
M3K |
unknown |
Het |
Zfp709 |
A |
T |
8: 72,644,648 (GRCm39) |
E692D |
possibly damaging |
Het |
Zglp1 |
A |
T |
9: 20,977,482 (GRCm39) |
L111Q |
probably benign |
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 |
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 |
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'- ATGGTGATTCATCCTTGGAGC -3'
(R):5'- ACACCCTTGACTGACGTTAG -3'
Sequencing Primer
(F):5'- AGCTGCTATGTTGCATAGACAG -3'
(R):5'- GACTGACGTTAGCATCTTAGTCAG -3'
|
Posted On |
2022-03-25 |