Incidental Mutation 'R7207:Mrtfb'
ID |
560723 |
Institutional Source |
Beutler Lab
|
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 # |
R7207 (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 T
at 13144300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 7
(I7L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009713]
[ENSMUST00000056715]
[ENSMUST00000115809]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009713
AA Change: I7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000009713 Gene: ENSMUSG00000009569 AA Change: I7L
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: ENSMUST00000056715
AA Change: I7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115809
AA Change: I7L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
Cep135 |
T |
G |
5: 76,780,090 (GRCm39) |
D807E |
probably benign |
Het |
Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
Sidt2 |
T |
C |
9: 45,856,449 (GRCm39) |
Y492C |
probably damaging |
Het |
Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
Thra |
A |
G |
11: 98,651,802 (GRCm39) |
Q108R |
probably damaging |
Het |
Tnni3k |
G |
A |
3: 154,580,782 (GRCm39) |
T621I |
probably damaging |
Het |
Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
Vill |
A |
T |
9: 118,900,281 (GRCm39) |
Q849L |
possibly damaging |
Het |
Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
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 |
|
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 |
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'- TGGGTGCACAGATAGAACTG -3'
(R):5'- AACATCGCTTATGGGGCTTGC -3'
Sequencing Primer
(F):5'- TGAACTCGAATGCCTGGCTTAAC -3'
(R):5'- GGGCTTGCCAAGTGTAACTCATAC -3'
|
Posted On |
2019-06-26 |