Mutagenetix > Incidental Mutation

Incidental Mutation 'R5074:Mrtfa'

386882

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

042663-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R5074 (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 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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,482 (GRCm39)	H143Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	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
Cdc25a	T	A	9: 109,713,208 (GRCm39)	C227S	possibly damaging	Het
Ces1a	A	G	8: 93,759,303 (GRCm39)	S278P	possibly damaging	Het
Cfap65	A	T	1: 74,962,137 (GRCm39)	S695T	probably benign	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Ctps1	A	T	4: 120,411,170 (GRCm39)	L282Q	probably damaging	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
Dennd3	G	A	15: 73,419,144 (GRCm39)	R645H	probably damaging	Het
Dnaaf5	G	T	5: 139,159,962 (GRCm39)	R620L	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Dnah9	A	G	11: 65,740,866 (GRCm39)	F4107L	probably damaging	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
Dst	A	C	1: 34,334,344 (GRCm39)	K4857N	probably damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Enpep	T	A	3: 129,097,404 (GRCm39)	Q409L	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
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,340 (GRCm39)	T328A	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,527 (GRCm39)	Q475*	probably null	Het
Itga6	T	A	2: 71,656,779 (GRCm39)	D344E	probably benign	Het
Kcnmb4	T	C	10: 116,309,102 (GRCm39)	T109A	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
Lrrc66	G	A	5: 73,765,354 (GRCm39)	P563L	probably damaging	Het
Mamdc2	T	C	19: 23,356,160 (GRCm39)	D96G	probably benign	Het
Map3k12	A	T	15: 102,410,267 (GRCm39)		probably null	Het
Mc3r	A	T	2: 172,091,533 (GRCm39)	I252F	possibly damaging	Het
Metrn	C	T	17: 26,015,613 (GRCm39)	G34D	probably damaging	Het
Mipep	A	G	14: 61,046,462 (GRCm39)	E328G	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Myh8	A	T	11: 67,196,742 (GRCm39)	T1792S	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,081,438 (GRCm39)	S1008T	probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Nup210	T	A	6: 91,032,309 (GRCm39)	I20F	probably benign	Het
Odad1	T	A	7: 45,578,514 (GRCm39)	M29K	probably benign	Het
Or10ak12	A	C	4: 118,666,057 (GRCm39)	W319G	possibly damaging	Het
Or10p21	T	C	10: 128,847,213 (GRCm39)	Y20H	possibly damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52e8b	A	T	7: 104,673,260 (GRCm39)	M309K	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or7h8	A	T	9: 20,123,878 (GRCm39)	I78F	possibly damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Papolg	G	A	11: 23,817,331 (GRCm39)	T153I	possibly damaging	Het
Pappa	A	G	4: 65,123,365 (GRCm39)	H900R	probably benign	Het
Pcdh17	T	C	14: 84,770,782 (GRCm39)	S1087P	probably benign	Het
Phf11a	T	G	14: 59,521,849 (GRCm39)	L107F	possibly damaging	Het
Phlpp2	A	T	8: 110,652,461 (GRCm39)	I602F	probably damaging	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
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prkaa1	G	T	15: 5,206,392 (GRCm39)	R416L	possibly damaging	Het
Prkdc	C	A	16: 15,589,912 (GRCm39)	R2592S	probably damaging	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prodh	A	T	16: 17,895,653 (GRCm39)		probably null	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
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Riox2	T	C	16: 59,312,236 (GRCm39)	S458P	possibly damaging	Het
Rnase4	T	C	14: 51,342,702 (GRCm39)	V142A	possibly damaging	Het
Rnf138	A	G	18: 21,159,204 (GRCm39)	N244S	probably benign	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Sfxn4	C	T	19: 60,839,450 (GRCm39)	V203M	probably damaging	Het
Skor2	G	T	18: 76,946,649 (GRCm39)	E124*	probably null	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
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spag17	T	A	3: 99,987,434 (GRCm39)	Y1575N	possibly damaging	Het
St8sia4	G	A	1: 95,594,910 (GRCm39)	A26V	probably benign	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tgm1	A	G	14: 55,947,392 (GRCm39)	V323A	probably damaging	Het
Tmco4	A	G	4: 138,785,433 (GRCm39)	H501R	probably damaging	Het
Tob1	A	T	11: 94,104,567 (GRCm39)	R34S	possibly damaging	Het
Trhr2	C	T	8: 123,084,110 (GRCm39)	V297I	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Trpm3	T	C	19: 22,862,713 (GRCm39)	V485A	possibly damaging	Het
Trrap	T	C	5: 144,787,989 (GRCm39)	I3518T	probably damaging	Het
Ttc27	T	C	17: 75,054,750 (GRCm39)	L352P	probably damaging	Het
Ush1g	A	G	11: 115,209,123 (GRCm39)	L357P	possibly damaging	Het
Usp24	A	G	4: 106,277,644 (GRCm39)	H2258R	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Vdr	A	G	15: 97,755,459 (GRCm39)	S355P	probably benign	Het
Vldlr	T	C	19: 27,215,677 (GRCm39)	S184P	probably damaging	Het
Xpo4	C	A	14: 57,822,098 (GRCm39)	A1073S	probably benign	Het
Zfand2b	A	G	1: 75,147,634 (GRCm39)	D224G	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	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
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
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'- CTAAGATGAACATGGGCCTGG -3'
(R):5'- TCAGCTCCTGTGGCTCTAAG -3'

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

Posted On

2016-06-06