Incidental Mutation 'IGL02803:Mrtfb'
| ID |
360322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrtfb
|
| Ensembl Gene |
ENSMUSG00000009569 |
| Gene Name |
myocardin related transcription factor B |
| Synonyms |
Mkl2, Gt4-1, Mrtfb, MRTF-B |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13221020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 743
(T743I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009713
(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: T743I
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: T743I
| 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 |
possibly damaging
Transcript: ENSMUST00000149359
AA Change: T732I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: T732I
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
C |
T |
12: 37,302,480 (GRCm39) |
L106F |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,673,473 (GRCm39) |
I208T |
possibly damaging |
Het |
| Arap2 |
G |
T |
5: 62,906,452 (GRCm39) |
A189D |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,883,324 (GRCm39) |
K1402E |
possibly damaging |
Het |
| C7 |
A |
C |
15: 5,079,042 (GRCm39) |
F89V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,861 (GRCm39) |
T877I |
probably damaging |
Het |
| Cpt2 |
T |
C |
4: 107,764,583 (GRCm39) |
T394A |
probably benign |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,875,078 (GRCm39) |
T2528N |
probably damaging |
Het |
| Entpd8 |
G |
T |
2: 24,975,151 (GRCm39) |
W494L |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,163,135 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,444 (GRCm39) |
V779A |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,455,548 (GRCm39) |
S34P |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,364,528 (GRCm39) |
V297A |
probably benign |
Het |
| Gpr65 |
T |
C |
12: 98,241,469 (GRCm39) |
S41P |
probably damaging |
Het |
| Gps1 |
G |
T |
11: 120,677,649 (GRCm39) |
A221S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,448,867 (GRCm39) |
S1861T |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,902,711 (GRCm39) |
E184G |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,452,140 (GRCm39) |
|
probably null |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,291 (GRCm39) |
S284G |
possibly damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,331,317 (GRCm39) |
A360S |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,987,533 (GRCm39) |
H298R |
probably benign |
Het |
| Or5an1 |
A |
T |
19: 12,261,347 (GRCm39) |
S312C |
possibly damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,321 (GRCm39) |
V91E |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,287 (GRCm39) |
D192G |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,170,006 (GRCm39) |
M158V |
probably benign |
Het |
| Patj |
C |
A |
4: 98,314,301 (GRCm39) |
Q374K |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,797 (GRCm39) |
G289W |
probably damaging |
Het |
| Phkg1 |
T |
G |
5: 129,894,895 (GRCm39) |
I219L |
possibly damaging |
Het |
| Ppp1r15b |
G |
A |
1: 133,061,081 (GRCm39) |
A533T |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,350,192 (GRCm39) |
I398V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,530 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,260,212 (GRCm39) |
L229F |
possibly damaging |
Het |
| Rps6ka1 |
T |
A |
4: 133,608,265 (GRCm39) |
Q24L |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,949,273 (GRCm39) |
I147T |
possibly damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,062,387 (GRCm39) |
I159N |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,572,526 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,541,714 (GRCm39) |
I347V |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,016,713 (GRCm39) |
M2163L |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,786,133 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
G |
A |
7: 14,145,630 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,078,320 (GRCm39) |
L4718P |
probably damaging |
Het |
| Timd4 |
G |
T |
11: 46,706,521 (GRCm39) |
G108W |
probably damaging |
Het |
| Timm9 |
T |
C |
12: 71,173,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,275 (GRCm39) |
V258I |
probably benign |
Het |
| Zcchc9 |
C |
T |
13: 91,949,000 (GRCm39) |
V174I |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,342,236 (GRCm39) |
V205A |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation