Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Mrtfa'

544312

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

045103-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80896482-81074937 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 80902649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 220 (S220*)

Ref Sequence

ENSEMBL: ENSMUSP00000117745 (fasta)

Gene Model

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

AlphaFold

Q8K4J6

Predicted Effect

probably null
Transcript: ENSMUST00000109579
AA Change: S255*

SMART Domains

Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292
AA Change: S255*

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 null
Transcript: ENSMUST00000131235
AA Change: S170*

SMART Domains

Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292
AA Change: S170*

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 null
Transcript: ENSMUST00000134469
AA Change: S220*

SMART Domains

Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292
AA Change: S220*

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 null
Transcript: ENSMUST00000135047
AA Change: S220*

SMART Domains

Protein: ENSMUSP00000118451
Gene: ENSMUSG00000042292
AA Change: S220*

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 null
Transcript: ENSMUST00000149582
AA Change: S220*

SMART Domains

Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292
AA Change: S220*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,171,539 (GRCm39)	Y764C	probably benign	Het
Atxn1	C	T	13: 45,721,095 (GRCm39)	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793 (GRCm38)	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,474 (GRCm39)	L111P	probably damaging	Het
Ccl8	A	T	11: 82,006,865 (GRCm39)	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,882,596 (GRCm39)		probably benign	Het
Cnga3	C	A	1: 37,283,965 (GRCm39)	H89Q	probably benign	Het
Cnga4	A	T	7: 105,056,190 (GRCm39)	Q264L	probably damaging	Het
Coil	A	G	11: 88,872,673 (GRCm39)	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,723,281 (GRCm39)	L461P	probably damaging	Het
Dock2	T	C	11: 34,414,922 (GRCm39)	E151G	probably damaging	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,168,743 (GRCm39)	C357S	probably null	Het
Ebf3	A	C	7: 136,826,994 (GRCm39)	I306R	probably damaging	Het
Eprs1	A	G	1: 185,128,360 (GRCm39)	H580R	possibly damaging	Het
Ermap	A	T	4: 119,035,810 (GRCm39)	F393I	probably damaging	Het
Flii	T	C	11: 60,613,151 (GRCm39)	T217A	probably benign	Het
Fras1	C	T	5: 96,762,732 (GRCm39)	Q745*	probably null	Het
Gja8	A	G	3: 96,826,657 (GRCm39)	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333 (GRCm38)	N48K	probably damaging	Het
Gpr158	C	T	2: 21,653,802 (GRCm39)	T457I	possibly damaging	Het
Kcnv1	A	T	15: 44,977,997 (GRCm39)	S14T	unknown	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Map1b	T	C	13: 99,567,142 (GRCm39)	T1860A	unknown	Het
Map2k7	T	C	8: 4,294,035 (GRCm39)	Y194H	possibly damaging	Het
Map4	T	A	9: 109,881,982 (GRCm39)	M282K	probably benign	Het
Mmp10	A	G	9: 7,503,531 (GRCm39)	I134V	probably benign	Het
Msh5	A	T	17: 35,248,978 (GRCm39)	L685Q	probably damaging	Het
Myh1	T	A	11: 67,111,463 (GRCm39)	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,217,980 (GRCm39)	R18*	probably null	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Ninl	G	T	2: 150,808,145 (GRCm39)	H294Q	probably benign	Het
Or4a79	G	A	2: 89,552,269 (GRCm39)	A62V	possibly damaging	Het
Or51b17	A	T	7: 103,542,238 (GRCm39)	S235T	probably benign	Het
Or8b44	T	C	9: 38,410,607 (GRCm39)	I214T	possibly damaging	Het
Orm3	T	A	4: 63,275,180 (GRCm39)	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,889,281 (GRCm39)	N432S	probably benign	Het
Pikfyve	T	A	1: 65,285,822 (GRCm39)	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371 (GRCm38)	D60E	probably benign	Het
Rack1	T	A	11: 48,694,752 (GRCm39)	V198E	probably damaging	Het
Ripk1	C	T	13: 34,201,100 (GRCm39)	A271V	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	T	13: 11,669,266 (GRCm39)	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,534,147 (GRCm39)	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfxn5	A	G	6: 85,233,414 (GRCm39)	V181A	probably benign	Het
Slc5a4b	C	T	10: 75,925,812 (GRCm39)	A198T	probably damaging	Het
Sp2	C	T	11: 96,848,552 (GRCm39)	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tnfrsf11b	G	A	15: 54,115,770 (GRCm39)	L276F	probably damaging	Het
Usp37	A	G	1: 74,493,118 (GRCm39)	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844 (GRCm39)	R36I	probably damaging	Het
Vcan	T	C	13: 89,838,737 (GRCm39)	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,485,338 (GRCm39)	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 9,902,998 (GRCm39)	G477R	probably benign	Het
Vmn2r60	C	A	7: 41,791,716 (GRCm39)	N546K	probably benign	Het
Wnt8b	G	A	19: 44,500,280 (GRCm39)	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,329,925 (GRCm39)	M10R	probably benign	Het
Zfp945	T	A	17: 23,071,543 (GRCm39)	K140*	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
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
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
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'- GGACTTGTGCTCCTACTTGG -3'
(R):5'- GTACAGCTCCATCTGATTGGTC -3'

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

Posted On

2019-05-13