Mutagenetix > Incidental Mutation

Incidental Mutation 'R4795:Mrtfa'

368978

Institutional Source

Beutler Lab

Gene Symbol

Mrtfa

Ensembl Gene

ENSMUSG00000042292

Gene Name

myocardin related transcription factor A

Synonyms

Mal, Bsac, Mkl1, MRTF-A

MMRRC Submission

041996-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R4795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80896482-81074937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80901234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 419 (S419N)

Ref Sequence

ENSEMBL: ENSMUSP00000118451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109579] [ENSMUST00000131235] [ENSMUST00000134469] [ENSMUST00000135047] [ENSMUST00000139517] [ENSMUST00000149582]

AlphaFold

Q8K4J6

Predicted Effect

probably benign
Transcript: ENSMUST00000109579
AA Change: S454N

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292
AA Change: S454N

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: ENSMUST00000124845

Predicted Effect

probably benign
Transcript: ENSMUST00000131235
AA Change: S369N

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292
AA Change: S369N

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 benign
Transcript: ENSMUST00000134469
AA Change: S419N

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292
AA Change: S419N

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: S419N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292
AA Change: S419N

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

probably benign
Transcript: ENSMUST00000139517

SMART Domains

Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303

Domain	Start	End	E-Value	Type
TBC	111	328	3.6e-62	SMART
low complexity region	381	391	N/A	INTRINSIC
SH3	483	538	6.34e-19	SMART
RUN	654	716	1.29e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149582
AA Change: S419N

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292
AA Change: S419N

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: ENSMUST00000145779

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (123/125)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,969,772 (GRCm39)	L2259R	probably damaging	Het
Acd	A	G	8: 106,427,647 (GRCm39)	S2P	possibly damaging	Het
Acsf3	A	G	8: 123,506,896 (GRCm39)	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,607,748 (GRCm39)	I5V	probably benign	Het
Adamts6	C	A	13: 104,580,636 (GRCm39)	S783*	probably null	Het
Adamtsl1	T	C	4: 86,162,006 (GRCm39)		probably null	Het
Adck2	T	A	6: 39,553,327 (GRCm39)	S313T	probably benign	Het
Adgb	A	G	10: 10,233,616 (GRCm39)	I1285T	probably benign	Het
Angptl1	T	A	1: 156,688,153 (GRCm39)	M485K	possibly damaging	Het
Ank3	G	A	10: 69,694,095 (GRCm39)	V289I	probably benign	Het
Atp13a4	A	G	16: 29,308,826 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,491,091 (GRCm39)	L648P	probably benign	Het
Atp2a3	A	G	11: 72,863,855 (GRCm39)	I194V	probably benign	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,420,739 (GRCm39)	Q337L	probably benign	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Cd34	T	G	1: 194,633,319 (GRCm39)	S194A	probably damaging	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Commd9	A	G	2: 101,729,241 (GRCm39)	N116D	probably benign	Het
Dab2	C	A	15: 6,459,092 (GRCm39)	P335T	probably benign	Het
Epb41l3	T	A	17: 69,555,714 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,049,727 (GRCm39)		probably null	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glyr1	A	C	16: 4,865,622 (GRCm39)	V44G	probably benign	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm18856	C	A	13: 14,139,793 (GRCm39)		probably benign	Het
Gm44501	A	G	17: 40,889,605 (GRCm39)	K40E	probably benign	Het
Hdhd5	T	C	6: 120,500,407 (GRCm39)	H97R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hsf5	A	G	11: 87,526,446 (GRCm39)	M373V	probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Iigp1	T	A	18: 60,522,964 (GRCm39)	F27L	probably benign	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073 (GRCm39)	W482*	probably null	Het
Kcnq1	A	G	7: 142,736,494 (GRCm39)	T168A	probably benign	Het
Lrch3	A	G	16: 32,826,074 (GRCm39)	N631S	probably damaging	Het
Lrrk1	T	A	7: 65,912,413 (GRCm39)	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Map4	T	C	9: 109,864,331 (GRCm39)	S519P	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc5b	A	G	7: 141,403,304 (GRCm39)	E755G	unknown	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208 (GRCm39)	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nfyb	A	T	10: 82,588,202 (GRCm39)		probably benign	Het
Nol4	T	C	18: 23,054,944 (GRCm39)	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,962,776 (GRCm39)	D787N	probably benign	Het
Olfr908	T	A	9: 38,427,799 (GRCm39)	M157K	probably damaging	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or11g7	A	C	14: 50,690,874 (GRCm39)	M122L	probably damaging	Het
Or13a22	A	G	7: 140,072,920 (GRCm39)	D123G	probably damaging	Het
Or5ac23	C	T	16: 59,149,213 (GRCm39)	V220I	probably benign	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or6e1	A	G	14: 54,520,004 (GRCm39)	M116T	probably damaging	Het
Orai3	T	C	7: 127,373,060 (GRCm39)	V187A	probably benign	Het
Parn	T	C	16: 13,424,066 (GRCm39)	T444A	probably benign	Het
Pcdh11x	A	C	X: 119,309,937 (GRCm39)	N460T	probably damaging	Het
Pcnt	C	T	10: 76,205,858 (GRCm39)	R2516H	probably benign	Het
Pde4d	T	A	13: 110,074,705 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pgm2	A	G	5: 64,261,217 (GRCm39)	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,541,605 (GRCm39)	V975A	probably benign	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,644,053 (GRCm39)	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,286,334 (GRCm39)	C16*	probably null	Het
Relb	A	T	7: 19,353,764 (GRCm39)	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Samsn1	A	G	16: 75,680,733 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,497,754 (GRCm39)	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,520,185 (GRCm39)	S200P	probably benign	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Slit3	G	A	11: 35,542,647 (GRCm39)		probably null	Het
Smo	T	A	6: 29,755,573 (GRCm39)	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035 (GRCm39)	V350L	possibly damaging	Het
Tbck	T	G	3: 132,413,559 (GRCm39)	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Tm9sf2	T	A	14: 122,387,252 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,880,757 (GRCm39)	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,954 (GRCm39)	T83A	probably benign	Het
Tmem63a	T	C	1: 180,782,416 (GRCm39)	Y138H	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,472,006 (GRCm39)	D66G	possibly damaging	Het
Trrap	T	A	5: 144,769,298 (GRCm39)	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 113,815,482 (GRCm39)	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,839,469 (GRCm39)	S461C	probably damaging	Het
Unc80	T	G	1: 66,567,100 (GRCm39)	I902S	probably damaging	Het
Usp42	C	A	5: 143,709,692 (GRCm39)	G170W	probably damaging	Het
Vldlr	T	C	19: 27,216,252 (GRCm39)		probably null	Het
Ywhab	A	G	2: 163,857,265 (GRCm39)	Y180C	probably damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp318	A	G	17: 46,722,988 (GRCm39)	T1664A	probably benign	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het
Zfp768	T	C	7: 126,942,547 (GRCm39)	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,314,570 (GRCm39)		probably null	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
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
R5072: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'- ATGTCACCATTTCACCAAAGGC -3'
(R):5'- TAACTCTCAACCCCTGCAGG -3'

Sequencing Primer
(F):5'- AAAGGCATCCCCAGGTGTG -3'
(R):5'- CTGAAGCAAGAACTGAAGTTGC -3'

Posted On

2016-02-04