Mutagenetix > Incidental Mutation

Incidental Mutation 'R7269:Mrtfb'

565182

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

045320-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7269 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13074345-13235393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13218898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 515 (M515L)

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: M526L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: M526L

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

possibly damaging
Transcript: ENSMUST00000149359
AA Change: M515L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: M515L

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: 99.2%

Validation Efficiency

98% (85/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	T	18: 24,606,013 (GRCm39)	N36I	probably damaging	Het
A430033K04Rik	T	A	5: 138,645,014 (GRCm39)	Y300N	possibly damaging	Het
Adipor2	T	C	6: 119,347,205 (GRCm39)	Q26R	probably benign	Het
Ahnak	T	A	19: 8,983,981 (GRCm39)	M1755K	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
AI837181	C	A	19: 5,476,462 (GRCm39)	S208R	probably damaging	Het
Arhgap35	T	G	7: 16,295,652 (GRCm39)	M1138L	probably benign	Het
Card14	T	G	11: 119,228,573 (GRCm39)	L633R	probably damaging	Het
Carmil3	A	G	14: 55,731,352 (GRCm39)	T144A	probably benign	Het
Cbfa2t2	T	A	2: 154,357,895 (GRCm39)	N223K	probably benign	Het
Ccdc39	T	C	3: 33,884,254 (GRCm39)	I363V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccpg1	G	T	9: 72,920,609 (GRCm39)	R741S	probably benign	Het
Cenpc1	A	G	5: 86,161,366 (GRCm39)	F855L	probably damaging	Het
Cenpc1	A	T	5: 86,180,277 (GRCm39)	M665K	probably benign	Het
Cp	A	G	3: 20,037,641 (GRCm39)	H832R	probably damaging	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dlc1	A	C	8: 37,046,407 (GRCm39)	L730R	probably damaging	Het
Dmbt1	A	T	7: 130,668,351 (GRCm39)	I536F	unknown	Het
Dscam	G	A	16: 96,479,601 (GRCm39)	T1182I	probably benign	Het
Eea1	A	T	10: 95,854,000 (GRCm39)	I553F	probably damaging	Het
Far1	T	C	7: 113,160,654 (GRCm39)	V400A	probably benign	Het
Fbrsl1	A	T	5: 110,580,880 (GRCm39)	S126T	probably benign	Het
Frmpd2	A	T	14: 33,244,838 (GRCm39)	E552V	possibly damaging	Het
Gm5431	T	A	11: 48,779,237 (GRCm39)	T562S	probably benign	Het
Gm5475	T	C	15: 100,324,890 (GRCm39)	F106S	unknown	Het
Gpr12	T	C	5: 146,520,188 (GRCm39)	T245A	probably damaging	Het
Gsta2	A	G	9: 78,239,419 (GRCm39)	Y166H	probably benign	Het
H6pd	A	G	4: 150,067,369 (GRCm39)	V347A	probably benign	Het
Ifih1	T	C	2: 62,475,977 (GRCm39)	T100A	probably benign	Het
Ift70b	A	G	2: 75,767,838 (GRCm39)	F305S	probably damaging	Het
Itga2	C	T	13: 115,023,225 (GRCm39)	W59*	probably null	Het
Knstrn	T	A	2: 118,661,869 (GRCm39)		probably null	Het
Kprp	A	G	3: 92,731,178 (GRCm39)	V624A	probably damaging	Het
Lmbrd2	A	G	15: 9,194,771 (GRCm39)	Y591C	probably damaging	Het
Map7d1	A	G	4: 126,126,666 (GRCm39)	V842A	unknown	Het
Mboat2	A	T	12: 24,881,708 (GRCm39)	T4S	probably benign	Het
Mcph1	T	A	8: 18,657,288 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,411,272 (GRCm39)	D1406G	unknown	Het
Mylk	G	A	16: 34,605,381 (GRCm39)	G3D	probably damaging	Het
Ndst4	A	G	3: 125,232,007 (GRCm39)	D192G	probably damaging	Het
Nemp1	G	T	10: 127,531,345 (GRCm39)	R361L	probably damaging	Het
Nol4	A	C	18: 23,172,846 (GRCm39)	V85G	probably benign	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Obscn	T	C	11: 58,933,838 (GRCm39)	E5342G	probably damaging	Het
Or10al7	C	A	17: 38,366,442 (GRCm39)	C5F	probably damaging	Het
Or4f47	T	A	2: 111,972,905 (GRCm39)	F205Y	probably damaging	Het
Or4p19	C	T	2: 88,242,839 (GRCm39)	M54I	possibly damaging	Het
Or51d1	T	G	7: 102,348,252 (GRCm39)	L269R	probably damaging	Het
Or7d10	A	G	9: 19,831,631 (GRCm39)	N42S	possibly damaging	Het
Pakap	G	T	4: 57,855,217 (GRCm39)	R182L	probably damaging	Het
Pde4dip	A	G	3: 97,674,275 (GRCm39)	S214P	probably damaging	Het
Per3	A	T	4: 151,116,393 (GRCm39)	C278*	probably null	Het
Pi4k2a	T	C	19: 42,079,125 (GRCm39)	L62P	probably damaging	Het
Plekha7	C	A	7: 115,780,447 (GRCm39)	G126W	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,353 (GRCm39)	K567E	probably damaging	Het
Pradc1	T	A	6: 85,424,548 (GRCm39)	Q134L	probably benign	Het
Pwp2	A	G	10: 78,012,170 (GRCm39)	F628L	probably benign	Het
Rab5c	C	T	11: 100,606,928 (GRCm39)	G217D	probably benign	Het
Rad51ap2	G	T	12: 11,506,807 (GRCm39)	S243I	possibly damaging	Het
Rasgrp4	C	A	7: 28,847,855 (GRCm39)	R432S	probably damaging	Het
Rhot2	C	T	17: 26,061,402 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,113 (GRCm39)	L1654Q	probably damaging	Het
Skint6	A	T	4: 112,711,686 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,094,491 (GRCm39)	T177S	probably benign	Het
Slc25a24	G	T	3: 109,065,960 (GRCm39)	Q272H	probably null	Het
Slc3a1	A	T	17: 85,339,873 (GRCm39)	I144F	probably damaging	Het
Smg9	C	T	7: 24,105,495 (GRCm39)	R176C	possibly damaging	Het
Sorl1	A	T	9: 41,948,499 (GRCm39)	L762Q	probably damaging	Het
Srebf2	C	A	15: 82,088,270 (GRCm39)	P1079T	probably benign	Het
Sub1	A	T	15: 11,993,937 (GRCm39)	S4T	probably benign	Het
Tacr1	A	T	6: 82,469,692 (GRCm39)	Y192F	probably benign	Het
Tm4sf19	A	T	16: 32,224,814 (GRCm39)	H54L	probably damaging	Het
Tnxb	T	C	17: 34,914,428 (GRCm39)	L1838P	probably damaging	Het
Trmt1l	T	C	1: 151,333,539 (GRCm39)	S681P	possibly damaging	Het
Ttn	A	G	2: 76,738,176 (GRCm39)	V4167A	unknown	Het
Unc13d	T	A	11: 115,959,056 (GRCm39)	M702L	probably benign	Het
Vgll3	A	G	16: 65,636,404 (GRCm39)	H240R	probably benign	Het
Vmn1r189	C	G	13: 22,286,737 (GRCm39)	W33C	probably benign	Het
Vmn2r17	G	A	5: 109,576,337 (GRCm39)	A403T	possibly damaging	Het
Vmn2r2	G	A	3: 64,033,998 (GRCm39)	T508I	probably benign	Het
Vps54	T	A	11: 21,227,670 (GRCm39)		probably null	Het
Wfs1	G	A	5: 37,125,134 (GRCm39)	Q586*	probably null	Het
Zbp1	A	T	2: 173,055,665 (GRCm39)	H166Q	unknown	Het
Zcchc3	G	A	2: 152,256,294 (GRCm39)	A135V	probably benign	Het
Zfp51	T	C	17: 21,683,960 (GRCm39)	Y192H	probably benign	Het
Zkscan2	T	C	7: 123,088,994 (GRCm39)	T426A	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
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'- CAGTCACAACACTGCATAATGCTG -3'
(R):5'- TTGAGGACCTCCACAAGCTTC -3'

Sequencing Primer
(F):5'- AATGCTGTAACAAGCTCTGTGTCC -3'
(R):5'- AGGACCTCCACAAGCTTCTGTTC -3'

Posted On

2019-06-26