Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Mrtfb'

346278

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

041887-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13074345-13235393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13150570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 102 (G102D)

Ref Sequence

ENSEMBL: ENSMUSP00000111476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009713] [ENSMUST00000056715] [ENSMUST00000115809]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009713

SMART Domains

Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569

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

probably damaging
Transcript: ENSMUST00000056715
AA Change: G102D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000115809
AA Change: G102D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Acsl1	A	T	8: 46,979,410 (GRCm39)	I421L	probably benign	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Ctnnd2	A	T	15: 30,887,315 (GRCm39)	M781L	probably benign	Het
Ctnnd2	A	G	15: 31,009,259 (GRCm39)	T1094A	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tbc1d24	A	T	17: 24,427,865 (GRCm39)	D32E	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly damaging	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
R1459:Mrtfb	UTSW	16	13,219,433 (GRCm39)	missense	possibly damaging	0.93
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
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'- TGTGCTGATGTCAAGTTTAAAAGGC -3'
(R):5'- CAACACCATGAGAGATGTGGAC -3'

Sequencing Primer
(F):5'- AGCCCAAATGATCAGTGTCTTTTC -3'
(R):5'- CACCATGAGAGATGTGGACTGACTG -3'

Posted On

2015-09-25