Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:Mrtfa'

388914

Institutional Source

Beutler Lab

Gene Symbol

Mrtfa

Ensembl Gene

ENSMUSG00000042292

Gene Name

myocardin related transcription factor A

Synonyms

Mal, Bsac, Mkl1, MRTF-A

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R5072 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

80896482-81074937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80906627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000117745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109579] [ENSMUST00000131235] [ENSMUST00000134469] [ENSMUST00000135047] [ENSMUST00000149582]

AlphaFold

Q8K4J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000109579
AA Change: V126A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292
AA Change: V126A

Domain	Start	End	E-Value	Type
RPEL	15	40	2.17e-7	SMART
RPEL	59	84	1.36e-8	SMART
RPEL	103	128	1.03e-8	SMART
low complexity region	146	159	N/A	INTRINSIC
low complexity region	209	228	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC
low complexity region	298	320	N/A	INTRINSIC
low complexity region	340	365	N/A	INTRINSIC
SAP	385	419	4.98e-10	SMART
low complexity region	424	433	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
coiled coil region	558	600	N/A	INTRINSIC
low complexity region	670	679	N/A	INTRINSIC
low complexity region	714	735	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123243

Predicted Effect

probably damaging
Transcript: ENSMUST00000131235
AA Change: V91A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292
AA Change: V91A

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	187	N/A	INTRINSIC
low complexity region	213	235	N/A	INTRINSIC
low complexity region	255	280	N/A	INTRINSIC
SAP	300	334	4.98e-10	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	398	411	N/A	INTRINSIC
coiled coil region	473	515	N/A	INTRINSIC
low complexity region	585	594	N/A	INTRINSIC
low complexity region	629	650	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134469
AA Change: V91A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292
AA Change: V91A

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000135047
AA Change: V91A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292
AA Change: V91A

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145779

Predicted Effect

probably damaging
Transcript: ENSMUST00000149582
AA Change: V91A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292
AA Change: V91A

Domain	Start	End	E-Value	Type
RPEL	24	49	1.36e-8	SMART
RPEL	68	93	1.03e-8	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	174	193	N/A	INTRINSIC
low complexity region	224	237	N/A	INTRINSIC
low complexity region	263	285	N/A	INTRINSIC
low complexity region	305	330	N/A	INTRINSIC
SAP	350	384	4.98e-10	SMART
low complexity region	389	398	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
coiled coil region	523	565	N/A	INTRINSIC
low complexity region	635	644	N/A	INTRINSIC
low complexity region	679	700	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154797

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired mammary myoepithelial cell differentiation and fail to eject milk and productively nurse their offspring. Mice homozygous for another null allele show partial embryonic lethality caused by myocardial necrosis as well as mammary gland dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,414 (GRCm39)	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 106,436,201 (GRCm39)	T158A	possibly damaging	Het
A1cf	T	C	19: 31,895,385 (GRCm39)	M156T	probably benign	Het
Abca15	A	G	7: 120,006,198 (GRCm39)	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox2	A	T	14: 8,241,374 (GRCm38)	Y579*	probably null	Het
Adnp	A	T	2: 168,024,921 (GRCm39)	S791R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Alx3	G	T	3: 107,512,109 (GRCm39)	S249I	possibly damaging	Het
Apob	A	G	12: 8,058,714 (GRCm39)	T2366A	probably benign	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Arid4a	T	C	12: 71,091,853 (GRCm39)	V213A	probably benign	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bpifa5	A	T	2: 154,007,892 (GRCm39)	E178V	probably damaging	Het
Car4	G	A	11: 84,854,193 (GRCm39)	E47K	probably benign	Het
Catsper1	T	C	19: 5,390,074 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,259,118 (GRCm39)	Q260L	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ces5a	C	T	8: 94,261,296 (GRCm39)	V44M	probably damaging	Het
Cltc	A	G	11: 86,608,794 (GRCm39)	I741T	possibly damaging	Het
Cnst	C	A	1: 179,450,451 (GRCm39)	D638E	possibly damaging	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Ddx20	A	G	3: 105,590,191 (GRCm39)		probably null	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Epha4	T	C	1: 77,421,639 (GRCm39)	Y281C	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,419,787 (GRCm39)		probably null	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
H2ac20	C	T	3: 96,128,099 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Irgc	T	C	7: 24,132,196 (GRCm39)	D207G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krtap1-4	C	G	11: 99,474,442 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,028,872 (GRCm39)	E365G	probably damaging	Het
Ly75	A	G	2: 60,206,307 (GRCm39)	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Mllt10	C	A	2: 18,114,685 (GRCm39)	H52N	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo3b	C	A	2: 69,925,593 (GRCm39)	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,816,644 (GRCm39)	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,044,382 (GRCm39)	T169I	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Oprm1	A	G	10: 6,782,550 (GRCm39)	S398G	probably benign	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51k1	T	A	7: 103,661,325 (GRCm39)	R195W	probably damaging	Het
Or6k2	A	T	1: 173,986,527 (GRCm39)	I63F	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,603,226 (GRCm39)	F91S	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Pygb	C	T	2: 150,643,498 (GRCm39)	T95M	probably damaging	Het
Rassf9	A	G	10: 102,381,766 (GRCm39)	K383E	probably damaging	Het
Rfk	T	A	19: 17,375,963 (GRCm39)	F86I	possibly damaging	Het
Rims2	T	C	15: 39,325,986 (GRCm39)	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019 (GRCm39)	I218V	probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spen	A	T	4: 141,249,613 (GRCm39)	S58R	unknown	Het
St3gal2	T	C	8: 111,684,350 (GRCm39)	C3R	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Stat5b	T	C	11: 100,699,361 (GRCm39)		probably null	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tmem26	A	G	10: 68,611,178 (GRCm39)	T216A	probably damaging	Het
Ttn	A	G	2: 76,550,822 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,602,709 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,576,746 (GRCm39)	V24716I	probably damaging	Het
Uba5	T	C	9: 103,931,626 (GRCm39)	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn2r111	C	A	17: 22,767,022 (GRCm39)	C825F	probably damaging	Het
Vmn2r113	T	A	17: 23,177,329 (GRCm39)	C704*	probably null	Het
Vmn2r56	A	G	7: 12,427,983 (GRCm39)	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,286,306 (GRCm39)	T268I	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,381,943 (GRCm39)	I797F	probably damaging	Het
Zfp68	A	T	5: 138,604,579 (GRCm39)	D543E	probably benign	Het

Other mutations in Mrtfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Mrtfa	APN	15	80,900,503 (GRCm39)	missense	probably damaging	1.00
IGL02831:Mrtfa	APN	15	80,988,994 (GRCm39)	missense	probably benign	0.14
IGL03060:Mrtfa	APN	15	80,929,523 (GRCm39)	missense	probably damaging	1.00
Betcha	UTSW	15	80,902,649 (GRCm39)	nonsense	probably null
R0594:Mrtfa	UTSW	15	80,901,375 (GRCm39)	missense	probably damaging	1.00
R0648:Mrtfa	UTSW	15	80,901,121 (GRCm39)	missense	probably damaging	1.00
R1085:Mrtfa	UTSW	15	80,905,084 (GRCm39)	missense	probably damaging	1.00
R1476:Mrtfa	UTSW	15	80,902,409 (GRCm39)	splice site	probably benign
R4030:Mrtfa	UTSW	15	80,899,985 (GRCm39)	missense	probably benign	0.01
R4232:Mrtfa	UTSW	15	80,907,796 (GRCm39)	missense	probably damaging	1.00
R4307:Mrtfa	UTSW	15	80,900,548 (GRCm39)	missense	possibly damaging	0.88
R4400:Mrtfa	UTSW	15	80,905,124 (GRCm39)	nonsense	probably null
R4795:Mrtfa	UTSW	15	80,901,234 (GRCm39)	missense	probably damaging	0.97
R4796:Mrtfa	UTSW	15	80,901,234 (GRCm39)	missense	probably damaging	0.97
R4801:Mrtfa	UTSW	15	80,989,000 (GRCm39)	missense	probably benign	0.15
R4802:Mrtfa	UTSW	15	80,989,000 (GRCm39)	missense	probably benign	0.15
R4899:Mrtfa	UTSW	15	80,902,587 (GRCm39)	missense	probably damaging	1.00
R4967:Mrtfa	UTSW	15	80,929,476 (GRCm39)	splice site	probably benign
R5071:Mrtfa	UTSW	15	80,906,627 (GRCm39)	missense	probably damaging	1.00
R5073:Mrtfa	UTSW	15	80,906,627 (GRCm39)	missense	probably damaging	1.00
R5074:Mrtfa	UTSW	15	80,906,627 (GRCm39)	missense	probably damaging	1.00
R6186:Mrtfa	UTSW	15	80,900,853 (GRCm39)	missense	probably damaging	1.00
R6512:Mrtfa	UTSW	15	80,897,917 (GRCm39)	missense	probably benign
R6581:Mrtfa	UTSW	15	80,900,574 (GRCm39)	missense	probably damaging	1.00
R6997:Mrtfa	UTSW	15	80,902,649 (GRCm39)	nonsense	probably null
R8773:Mrtfa	UTSW	15	80,902,274 (GRCm39)	missense	possibly damaging	0.68
R8834:Mrtfa	UTSW	15	80,904,511 (GRCm39)	missense	probably benign	0.00
R9742:Mrtfa	UTSW	15	80,901,180 (GRCm39)	missense	possibly damaging	0.89
RF023:Mrtfa	UTSW	15	80,900,057 (GRCm39)	missense	probably damaging	1.00
RF024:Mrtfa	UTSW	15	80,902,456 (GRCm39)	small deletion	probably benign
X0013:Mrtfa	UTSW	15	80,906,637 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCCTAAGATGAACATGGGCCTG -3'
(R):5'- TCAGCTCCTGTGGCTCTAAG -3'

Sequencing Primer
(F):5'- ATGAACATGGGCCTGGGTTCC -3'
(R):5'- CAGGAATCTGGGACCTTTCC -3'

Posted On

2016-06-06