Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Mrtfb'

161999

Institutional Source

Beutler Lab

Gene Symbol

Mrtfb

Ensembl Gene

ENSMUSG00000009569

Gene Name

myocardin related transcription factor B

Synonyms

Mkl2, Gt4-1, Mrtfb, MRTF-B

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1459 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13074345-13235393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13219433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 693 (V693A)

Ref Sequence

ENSEMBL: ENSMUSP00000122815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000149359]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009713
AA Change: V704A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: V704A

Domain	Start	End	E-Value	Type
RPEL	51	76	9.67e-5	SMART
RPEL	95	120	2.22e-4	SMART
RPEL	139	164	1.56e-8	SMART
low complexity region	217	230	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
low complexity region	329	352	N/A	INTRINSIC
low complexity region	369	381	N/A	INTRINSIC
SAP	394	428	1.29e-8	SMART
low complexity region	495	510	N/A	INTRINSIC
coiled coil region	552	601	N/A	INTRINSIC
low complexity region	603	617	N/A	INTRINSIC
low complexity region	699	722	N/A	INTRINSIC
low complexity region	749	775	N/A	INTRINSIC
low complexity region	842	854	N/A	INTRINSIC
low complexity region	1039	1050	N/A	INTRINSIC
low complexity region	1057	1074	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149359
AA Change: V693A

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: V693A

Domain	Start	End	E-Value	Type
RPEL	40	65	4.51e-5	SMART
RPEL	84	109	2.22e-4	SMART
RPEL	128	153	1.56e-8	SMART
low complexity region	206	219	N/A	INTRINSIC
low complexity region	280	293	N/A	INTRINSIC
low complexity region	318	341	N/A	INTRINSIC
low complexity region	358	370	N/A	INTRINSIC
SAP	383	417	1.29e-8	SMART
low complexity region	484	499	N/A	INTRINSIC
coiled coil region	541	590	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
low complexity region	688	711	N/A	INTRINSIC
low complexity region	738	764	N/A	INTRINSIC
low complexity region	831	843	N/A	INTRINSIC
low complexity region	1028	1039	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210378

Meta Mutation Damage Score

0.0690

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

MGI Phenotype

PHENOTYPE: Mice homozygous for knock-out alleles exhibit prenatal lethality with widespread hemorrhaging, cardiovascular defects, and craniofacial anomalies. Mice homozygous for a gene trap allele exhibit fetal lethality due to cardiac outflow tractdefects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,450,578 (GRCm39)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,752,920 (GRCm39)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,968,662 (GRCm39)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,034,583 (GRCm39)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,344,102 (GRCm39)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,507,550 (GRCm39)		probably null	Het
Ankrd13c	T	A	3: 157,677,947 (GRCm39)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,711,174 (GRCm39)	A97S	probably benign	Het
Apaf1	T	C	10: 90,898,022 (GRCm39)	N245S	probably benign	Het
Apob	A	G	12: 8,056,047 (GRCm39)	T1510A	probably benign	Het
Apob	A	G	12: 8,061,937 (GRCm39)	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,191,138 (GRCm39)	T12I	probably benign	Het
Bend4	A	G	5: 67,557,418 (GRCm39)	V466A	probably damaging	Het
Bend7	G	A	2: 4,749,239 (GRCm39)	E119K	probably damaging	Het
Capn5	G	T	7: 97,781,049 (GRCm39)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,679,510 (GRCm39)	I63V	probably benign	Het
Cd86	T	A	16: 36,449,350 (GRCm39)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,262,734 (GRCm39)		probably benign	Het
Cep20	G	A	16: 14,122,380 (GRCm39)	T128I	possibly damaging	Het
Cep95	C	T	11: 106,708,781 (GRCm39)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,112,810 (GRCm39)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,755,453 (GRCm39)	M356K	probably damaging	Het
Coq7	C	T	7: 118,109,260 (GRCm39)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,445 (GRCm39)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,820,750 (GRCm39)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,938,476 (GRCm39)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,769,744 (GRCm39)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,456,717 (GRCm39)	M624I	probably damaging	Het
Fbxo42	T	C	4: 140,895,073 (GRCm39)	V12A	probably benign	Het
Gabarapl1	T	A	6: 129,515,635 (GRCm39)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,552,902 (GRCm39)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,483,650 (GRCm39)		noncoding transcript	Het
Gnl3	G	A	14: 30,739,803 (GRCm39)	R12C	probably damaging	Het
Golga2	T	G	2: 32,187,807 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,062,878 (GRCm39)	R656S	probably benign	Het
Gsap	T	A	5: 21,412,236 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,210,240 (GRCm39)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,056,755 (GRCm39)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,869,937 (GRCm39)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,468,302 (GRCm39)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,367,683 (GRCm39)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,290,821 (GRCm39)	E3546D	probably damaging	Het
Lrp2	T	A	2: 69,313,738 (GRCm39)	D2331V	probably damaging	Het
Lzts2	T	A	19: 45,009,893 (GRCm39)	V9E	probably damaging	Het
Matr3	T	A	18: 35,717,709 (GRCm39)	D302E	probably benign	Het
Mcoln2	A	G	3: 145,897,979 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,704,811 (GRCm39)	D272G	probably damaging	Het
Mitf	A	G	6: 97,987,428 (GRCm39)	D337G	probably damaging	Het
Msh2	A	G	17: 87,985,771 (GRCm39)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,523,555 (GRCm39)	M642L	probably benign	Het
Noxa1	G	T	2: 24,982,558 (GRCm39)	Q86K	probably benign	Het
Nrap	T	C	19: 56,372,562 (GRCm39)	T48A	probably benign	Het
Nup160	T	A	2: 90,520,494 (GRCm39)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,056,699 (GRCm39)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,385,409 (GRCm39)	N281S	probably benign	Het
Pcnp	C	T	16: 55,844,703 (GRCm39)	E66K	possibly damaging	Het
Phf11	T	A	14: 59,482,227 (GRCm39)	E175D	probably damaging	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 106,108,431 (GRCm39)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,918,203 (GRCm39)	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,871,055 (GRCm39)	Y82F	probably damaging	Het
Prkd3	T	C	17: 79,278,796 (GRCm39)	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,893,240 (GRCm39)	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,740,173 (GRCm39)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,797,695 (GRCm39)		probably null	Het
Sipa1	A	G	19: 5,701,692 (GRCm39)	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,066,489 (GRCm39)	C383*	probably null	Het
Slc19a1	C	G	10: 76,878,369 (GRCm39)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,052,827 (GRCm39)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,196,837 (GRCm39)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,743,333 (GRCm39)	H225Y	possibly damaging	Het
Son	T	C	16: 91,452,230 (GRCm39)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,658,657 (GRCm39)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,696,714 (GRCm39)		probably benign	Het
Tatdn2	T	A	6: 113,687,031 (GRCm39)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,877,516 (GRCm39)	R44L	probably benign	Het
Tenm3	G	A	8: 48,689,006 (GRCm39)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,822,931 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,650,188 (GRCm39)	I120N	probably damaging	Het
Umodl1	T	A	17: 31,201,232 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,205,478 (GRCm39)	V662A	probably benign	Het
Ush2a	T	C	1: 188,595,048 (GRCm39)	S3827P	probably benign	Het
Vasn	T	A	16: 4,466,473 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,055,908 (GRCm39)	C743*	probably null	Het
Vmn2r79	C	A	7: 86,687,002 (GRCm39)	H794Q	probably benign	Het

Other mutations in Mrtfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Mrtfb	APN	16	13,221,089 (GRCm39)	missense	possibly damaging	0.71
IGL00546:Mrtfb	APN	16	13,221,086 (GRCm39)	missense	probably benign	0.28
IGL01325:Mrtfb	APN	16	13,219,088 (GRCm39)	missense	probably damaging	1.00
IGL02125:Mrtfb	APN	16	13,218,047 (GRCm39)	splice site	probably null
IGL02803:Mrtfb	APN	16	13,221,020 (GRCm39)	missense	possibly damaging	0.94
IGL03143:Mrtfb	APN	16	13,218,676 (GRCm39)	missense	possibly damaging	0.46
IGL03180:Mrtfb	APN	16	13,216,196 (GRCm39)	missense	probably damaging	1.00
R0281:Mrtfb	UTSW	16	13,230,027 (GRCm39)	missense	probably damaging	0.99
R0505:Mrtfb	UTSW	16	13,230,390 (GRCm39)	missense	possibly damaging	0.80
R0540:Mrtfb	UTSW	16	13,199,465 (GRCm39)	missense	probably damaging	1.00
R0607:Mrtfb	UTSW	16	13,199,465 (GRCm39)	missense	probably damaging	1.00
R1073:Mrtfb	UTSW	16	13,230,182 (GRCm39)	missense	possibly damaging	0.89
R1423:Mrtfb	UTSW	16	13,230,105 (GRCm39)	missense	possibly damaging	0.96
R1432:Mrtfb	UTSW	16	13,218,866 (GRCm39)	missense	probably benign	0.01
R1693:Mrtfb	UTSW	16	13,216,335 (GRCm39)	missense	probably damaging	0.99
R1693:Mrtfb	UTSW	16	13,216,334 (GRCm39)	missense	possibly damaging	0.67
R2006:Mrtfb	UTSW	16	13,199,440 (GRCm39)	nonsense	probably null
R2076:Mrtfb	UTSW	16	13,219,246 (GRCm39)	missense	probably benign	0.01
R2125:Mrtfb	UTSW	16	13,218,668 (GRCm39)	missense	possibly damaging	0.94
R2145:Mrtfb	UTSW	16	13,230,450 (GRCm39)	missense	probably damaging	0.98
R3722:Mrtfb	UTSW	16	13,203,557 (GRCm39)	missense	probably damaging	1.00
R3883:Mrtfb	UTSW	16	13,219,322 (GRCm39)	missense	probably damaging	0.99
R4088:Mrtfb	UTSW	16	13,202,064 (GRCm39)	missense	probably damaging	0.98
R4204:Mrtfb	UTSW	16	13,221,119 (GRCm39)	missense	possibly damaging	0.88
R4301:Mrtfb	UTSW	16	13,216,169 (GRCm39)	missense	probably damaging	1.00
R4622:Mrtfb	UTSW	16	13,150,570 (GRCm39)	missense	probably damaging	1.00
R4633:Mrtfb	UTSW	16	13,197,737 (GRCm39)	missense	possibly damaging	0.95
R4765:Mrtfb	UTSW	16	13,230,458 (GRCm39)	missense	probably damaging	1.00
R5201:Mrtfb	UTSW	16	13,219,456 (GRCm39)	missense	probably benign	0.00
R5403:Mrtfb	UTSW	16	13,218,877 (GRCm39)	missense	probably damaging	0.97
R5725:Mrtfb	UTSW	16	13,202,174 (GRCm39)	nonsense	probably null
R6511:Mrtfb	UTSW	16	13,197,714 (GRCm39)	missense	probably damaging	1.00
R7207:Mrtfb	UTSW	16	13,144,300 (GRCm39)	missense	probably benign
R7269:Mrtfb	UTSW	16	13,218,898 (GRCm39)	missense	possibly damaging	0.48
R7311:Mrtfb	UTSW	16	13,223,718 (GRCm39)	nonsense	probably null
R7460:Mrtfb	UTSW	16	13,218,840 (GRCm39)	missense	probably benign	0.00
R8480:Mrtfb	UTSW	16	13,202,056 (GRCm39)	critical splice acceptor site	probably null
R9032:Mrtfb	UTSW	16	13,230,092 (GRCm39)	missense	probably damaging	1.00
R9085:Mrtfb	UTSW	16	13,230,092 (GRCm39)	missense	probably damaging	1.00
R9098:Mrtfb	UTSW	16	13,221,053 (GRCm39)	missense	probably benign
R9229:Mrtfb	UTSW	16	13,230,185 (GRCm39)	missense	possibly damaging	0.89
R9298:Mrtfb	UTSW	16	13,202,082 (GRCm39)	missense	probably benign	0.10
R9310:Mrtfb	UTSW	16	13,218,954 (GRCm39)	missense	probably benign
R9343:Mrtfb	UTSW	16	13,218,791 (GRCm39)	missense	probably benign	0.00
R9436:Mrtfb	UTSW	16	13,223,151 (GRCm39)	nonsense	probably null
Z1177:Mrtfb	UTSW	16	13,203,470 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGCTGCTGAGAAGGACCGCAAAC -3'
(R):5'- GCTATCAGGCAACACTGTGAAGCAC -3'

Sequencing Primer
(F):5'- TCAGATCCTAAACATGGCAGTG -3'
(R):5'- AGCACACTTCATACCTGGAGTTG -3'

Posted On

2014-03-14