Mutagenetix > Incidental Mutation

Incidental Mutation 'R4899:Mrtfa'

376039

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

042503-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R4899 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80896482-81074937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80902587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 241 (Y241H)

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: Y276H

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

SMART Domains

Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292
AA Change: Y276H

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

probably damaging
Transcript: ENSMUST00000131235
AA Change: Y191H

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

SMART Domains

Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292
AA Change: Y191H

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: Y241H

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

SMART Domains

Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292
AA Change: Y241H

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: Y241H

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

SMART Domains

Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292
AA Change: Y241H

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: Y241H

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

SMART Domains

Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292
AA Change: Y241H

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

Coding Region Coverage

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	G	3: 40,860,304 (GRCm39)		probably null	Het
Adra2c	A	T	5: 35,437,705 (GRCm39)	Y159F	probably damaging	Het
Alkal2	T	A	12: 30,934,972 (GRCm39)	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,713,361 (GRCm39)	V72A	unknown	Het
Atp13a5	A	G	16: 29,197,318 (GRCm39)	L13P	probably damaging	Het
Azin2	G	A	4: 128,828,446 (GRCm39)	P254S	probably benign	Het
Bmpr1b	T	C	3: 141,546,444 (GRCm39)	R481G	probably damaging	Het
Cacna2d4	G	A	6: 119,245,157 (GRCm39)	W288*	probably null	Het
Cass4	A	G	2: 172,269,789 (GRCm39)	T626A	probably benign	Het
Cep112	T	A	11: 108,497,110 (GRCm39)	D683E	probably damaging	Het
Cfap300	A	T	9: 8,022,494 (GRCm39)	S243T	possibly damaging	Het
Chat	G	T	14: 32,170,934 (GRCm39)	S188R	possibly damaging	Het
Cit	A	G	5: 116,001,087 (GRCm39)	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,443,722 (GRCm39)	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,652,787 (GRCm39)	N185D	probably benign	Het
Cnbd2	G	T	2: 156,181,141 (GRCm39)	V192F	probably benign	Het
Col6a3	C	A	1: 90,730,149 (GRCm39)	G1112V	probably damaging	Het
Csta2	A	T	16: 36,077,731 (GRCm39)	Y96F	possibly damaging	Het
Cyp3a25	A	G	5: 145,914,481 (GRCm39)	F483S	possibly damaging	Het
Dscam	T	C	16: 96,485,018 (GRCm39)	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921 (GRCm39)	Q1629*	probably null	Het
Enpp6	A	G	8: 47,440,118 (GRCm39)	Y38C	probably damaging	Het
Epg5	T	A	18: 78,028,272 (GRCm39)	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,722,528 (GRCm39)	V75I	probably benign	Het
Fat3	T	C	9: 15,881,095 (GRCm39)	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,159,921 (GRCm39)	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,842 (GRCm39)	N990D	probably benign	Het
Frat1	T	G	19: 41,818,761 (GRCm39)	L52R	probably damaging	Het
Ftmt	C	G	18: 52,464,658 (GRCm39)		probably benign	Het
H2-M1	C	T	17: 36,982,112 (GRCm39)	G163D	probably benign	Het
Hapln1	A	G	13: 89,749,769 (GRCm39)	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,838,381 (GRCm39)	A31S	probably benign	Het
Il6st	T	C	13: 112,637,695 (GRCm39)	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,633,472 (GRCm39)	I213T	probably damaging	Het
Kidins220	T	C	12: 25,063,442 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mertk	C	A	2: 128,625,845 (GRCm39)	P660Q	probably damaging	Het
Mtarc2	A	T	1: 184,577,821 (GRCm39)	I65N	probably damaging	Het
Napepld	A	G	5: 21,888,438 (GRCm39)	Y4H	probably benign	Het
Ncam1	T	A	9: 49,456,551 (GRCm39)		probably null	Het
Nuak2	A	T	1: 132,252,724 (GRCm39)	K93*	probably null	Het
Oat	A	T	7: 132,165,951 (GRCm39)	D211E	probably benign	Het
Or1j19	A	G	2: 36,676,810 (GRCm39)	Q91R	probably benign	Het
Or2aj6	G	A	16: 19,442,950 (GRCm39)	A300V	probably benign	Het
Or4c109	A	C	2: 88,818,454 (GRCm39)	L31V	probably null	Het
Or51b17	A	G	7: 103,542,672 (GRCm39)	I90T	possibly damaging	Het
Or7a39	A	T	10: 78,715,041 (GRCm39)	S12C	probably benign	Het
Pde4dip	C	A	3: 97,616,874 (GRCm39)	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,211,862 (GRCm39)	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 44,803,951 (GRCm39)		probably benign	Het
Plekhd1	T	C	12: 80,769,101 (GRCm39)	S454P	probably damaging	Het
Polr2h	G	A	16: 20,539,303 (GRCm39)	V89M	probably damaging	Het
Pptc7	G	A	5: 122,422,780 (GRCm39)	G17S	possibly damaging	Het
Pramel55	T	C	5: 95,949,586 (GRCm39)	V111A	probably benign	Het
Ptpra	T	C	2: 130,386,356 (GRCm39)	V602A	probably damaging	Het
Rnf123	C	T	9: 107,940,879 (GRCm39)	R654H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	A	G	16: 75,675,991 (GRCm39)	S135P	probably damaging	Het
Sgsm3	A	G	15: 80,890,980 (GRCm39)	N147S	probably benign	Het
Shoc1	T	C	4: 59,062,640 (GRCm39)	Y872C	probably damaging	Het
Slc22a29	T	C	19: 8,138,933 (GRCm39)	T510A	probably benign	Het
Smc4	T	A	3: 68,939,144 (GRCm39)	H978Q	probably damaging	Het
Sox7	G	A	14: 64,185,927 (GRCm39)	R321H	probably damaging	Het
Spred3	T	C	7: 28,861,258 (GRCm39)	D307G	probably damaging	Het
Syne2	T	A	12: 75,900,875 (GRCm39)	D11E	probably benign	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Top2b	A	T	14: 16,387,313 (GRCm38)	I134F	probably damaging	Het
Tspan1	T	A	4: 116,020,563 (GRCm39)	R206*	probably null	Het
Ttc3	A	T	16: 94,230,314 (GRCm39)	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,693,549 (GRCm39)	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,151,324 (GRCm39)	S97P	probably damaging	Het
Zfp2	T	A	11: 50,790,841 (GRCm39)	I401F	probably damaging	Het
Zfp629	T	C	7: 127,210,190 (GRCm39)	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,231 (GRCm39)	V834I	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
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'- GGGACTTGTGCTCCTACTTG -3'
(R):5'- ACGTCTTCTAGGATAGGGCCAG -3'

Sequencing Primer
(F):5'- TCCTACTTGGGAGGGGCAG -3'
(R):5'- CTTCTAGGATAGGGCCAGTGTCATAG -3'

Posted On

2016-03-17