Incidental Mutation 'R9343:Mrtfb'
| ID |
716001 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
13074345-13235393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13218791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 479
(V479A)
|
| 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: V490A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: V490A
| 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: V479A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: V479A
| 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 |
|
| Meta Mutation Damage Score |
0.0775 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,547,505 (GRCm39) |
I960V |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,079 (GRCm39) |
D632G |
probably benign |
Het |
| Aplp2 |
A |
T |
9: 31,122,935 (GRCm39) |
L30Q |
unknown |
Het |
| Axl |
A |
T |
7: 25,473,544 (GRCm39) |
Y361N |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,077,090 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
C |
9: 107,992,701 (GRCm39) |
D1017G |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,875,999 (GRCm39) |
D1046V |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,364,553 (GRCm39) |
G594S |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,098,458 (GRCm39) |
S519P |
probably benign |
Het |
| Cnot2 |
T |
G |
10: 116,346,326 (GRCm39) |
H92P |
|
Het |
| Col2a1 |
T |
C |
15: 97,877,775 (GRCm39) |
D1049G |
probably damaging |
Het |
| Creld1 |
C |
T |
6: 113,466,728 (GRCm39) |
A237V |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,287 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,015,001 (GRCm39) |
T643I |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,072 (GRCm39) |
T109S |
|
Het |
| Grap |
C |
A |
11: 61,562,551 (GRCm39) |
P174Q |
possibly damaging |
Het |
| Itgb5 |
T |
A |
16: 33,730,826 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,058,078 (GRCm39) |
N561S |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,983,796 (GRCm39) |
S32T |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,971 (GRCm39) |
T344S |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,334,769 (GRCm39) |
I661T |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,156,751 (GRCm39) |
N57S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,186 (GRCm39) |
D863G |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,961,563 (GRCm39) |
V400D |
probably damaging |
Het |
| Polr2l |
A |
G |
7: 141,053,246 (GRCm39) |
I56T |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,884 (GRCm39) |
I422T |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,359,124 (GRCm39) |
S110R |
possibly damaging |
Het |
| Rab7b |
A |
T |
1: 131,639,540 (GRCm39) |
|
probably benign |
Het |
| Rnf152 |
A |
T |
1: 105,212,251 (GRCm39) |
L102Q |
|
Het |
| Samd12 |
A |
G |
15: 53,583,088 (GRCm39) |
V82A |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,299 (GRCm39) |
R123S |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,615,737 (GRCm39) |
N794I |
probably damaging |
Het |
| Surf6 |
T |
C |
2: 26,783,006 (GRCm39) |
K154R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,230,353 (GRCm39) |
A71T |
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,673 (GRCm39) |
Y649H |
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,667,497 (GRCm39) |
W808R |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,245,287 (GRCm39) |
D104G |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,645,339 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r119 |
A |
G |
7: 20,746,358 (GRCm39) |
V8A |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,546 (GRCm39) |
H48L |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,232,523 (GRCm39) |
|
probably null |
Het |
| Zcchc17 |
T |
C |
4: 130,210,546 (GRCm39) |
D207G |
probably damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,942 (GRCm39) |
S331P |
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 |
|
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 |
|
|
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'- ACCAGTAGTAACCTTGCCACTG -3'
(R):5'- TCTCAGCAGCATCCAGTTCTAG -3'
Sequencing Primer
(F):5'- CCACTGGCAGTATTGTGGC -3'
(R):5'- TCAGCAGCATCCAGTTCTAGAGTAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation