Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Mkl2'

705513

Institutional Source

Beutler Lab

Gene Symbol

Mkl2

Ensembl Gene

ENSMUSG00000009569

Gene Name

MKL/myocardin-like 2

Synonyms

Gt4-1, MRTF-B, Mrtfb

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13256481-13417529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13401090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 533 (D533E)

Ref Sequence

ENSEMBL: ENSMUSP00000122815 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000009713
AA Change: D544E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000009713
Gene: ENSMUSG00000009569
AA Change: D544E

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 benign
Transcript: ENSMUST00000149359
AA Change: D533E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122815
Gene: ENSMUSG00000009569
AA Change: D533E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120 (GRCm38)	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729 (GRCm38)	A288V	probably null	Het
Acer1	A	T	17: 56,955,598 (GRCm38)	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481 (GRCm38)		probably null	Het
Arid1a	T	C	4: 133,686,314 (GRCm38)	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962 (GRCm38)	H84L	probably benign	Het
Atxn1	A	C	13: 45,568,018 (GRCm38)	Y134D	probably damaging	Het
BC055324	A	G	1: 163,964,520 (GRCm38)	C610R	probably damaging	Het
Btbd1	T	C	7: 81,829,237 (GRCm38)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464 (GRCm38)	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417 (GRCm38)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953 (GRCm38)		probably null	Het
Cc2d2a	T	C	5: 43,695,146 (GRCm38)	F404S	probably damaging	Het
Cdh20	T	C	1: 104,947,336 (GRCm38)	M281T	probably damaging	Het
Cfap54	A	T	10: 92,962,315 (GRCm38)	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261 (GRCm38)	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019 (GRCm38)	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347 (GRCm38)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313 (GRCm38)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm38)	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061 (GRCm38)	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781 (GRCm38)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433 (GRCm38)	F4214S	probably damaging	Het
Dock2	A	G	11: 34,294,139 (GRCm38)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,631,441 (GRCm38)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,725,644 (GRCm38)	L825I	probably benign	Het
Efcab5	A	G	11: 77,113,705 (GRCm38)	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316 (GRCm38)	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850 (GRCm38)		probably null	Het
Gm4847	T	C	1: 166,632,712 (GRCm38)	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805 (GRCm38)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610 (GRCm38)	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263 (GRCm38)	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249 (GRCm38)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928 (GRCm38)	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260 (GRCm38)	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491 (GRCm38)	E183K	unknown	Het
Mefv	T	C	16: 3,715,388 (GRCm38)	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713 (GRCm38)	K958R	probably benign	Het
Mtor	T	A	4: 148,469,377 (GRCm38)	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744 (GRCm38)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696 (GRCm38)	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867 (GRCm38)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408 (GRCm38)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm38)	A74S	probably benign	Het
Olfr1220	T	A	2: 89,097,913 (GRCm38)	S5C	probably damaging	Het
Olfr711	C	A	7: 106,971,471 (GRCm38)	C291F	probably damaging	Het
Olfr794	T	A	10: 129,570,818 (GRCm38)	N54K	probably benign	Het
Pard3b	G	T	1: 62,166,369 (GRCm38)	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,090,072 (GRCm38)	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440 (GRCm38)	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662 (GRCm38)	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515 (GRCm38)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999 (GRCm38)	M1225K	probably benign	Het
Prss23	T	C	7: 89,509,934 (GRCm38)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,002,052 (GRCm38)	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122 (GRCm38)	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719 (GRCm38)		probably null	Het
Rcbtb1	T	G	14: 59,235,250 (GRCm38)	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959 (GRCm38)	Y228H		Het
Reep5	C	T	18: 34,357,169 (GRCm38)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929 (GRCm38)	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077 (GRCm38)	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446 (GRCm38)		probably null	Het
Sbf2	T	C	7: 110,315,085 (GRCm38)	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406 (GRCm38)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497 (GRCm38)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554 (GRCm38)	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221 (GRCm38)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540 (GRCm38)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600 (GRCm38)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370 (GRCm38)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488 (GRCm38)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894 (GRCm38)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226 (GRCm38)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937 (GRCm38)	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134 (GRCm38)	V139M	probably benign	Het
Suco	T	C	1: 161,856,858 (GRCm38)	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900 (GRCm38)		probably benign	Het
Tg	T	C	15: 66,827,269 (GRCm38)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727 (GRCm38)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm38)	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202 (GRCm38)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702 (GRCm38)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256 (GRCm38)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124 (GRCm38)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218 (GRCm38)	A732V	possibly damaging	Het
Wdr63	C	T	3: 146,097,140 (GRCm38)		probably null	Het
Xrcc3	T	G	12: 111,805,051 (GRCm38)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976 (GRCm38)	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401 (GRCm38)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100 (GRCm38)	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759 (GRCm38)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm38)	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473 (GRCm38)	W925R	possibly damaging	Het

Other mutations in Mkl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Mkl2	APN	16	13,403,225 (GRCm38)	missense	possibly damaging	0.71
IGL00546:Mkl2	APN	16	13,403,222 (GRCm38)	missense	probably benign	0.28
IGL01325:Mkl2	APN	16	13,401,224 (GRCm38)	missense	probably damaging	1.00
IGL02125:Mkl2	APN	16	13,400,183 (GRCm38)	splice site	probably null
IGL02803:Mkl2	APN	16	13,403,156 (GRCm38)	missense	possibly damaging	0.94
IGL03143:Mkl2	APN	16	13,400,812 (GRCm38)	missense	possibly damaging	0.46
IGL03180:Mkl2	APN	16	13,398,332 (GRCm38)	missense	probably damaging	1.00
R0281:Mkl2	UTSW	16	13,412,163 (GRCm38)	missense	probably damaging	0.99
R0505:Mkl2	UTSW	16	13,412,526 (GRCm38)	missense	possibly damaging	0.80
R0540:Mkl2	UTSW	16	13,381,601 (GRCm38)	missense	probably damaging	1.00
R0607:Mkl2	UTSW	16	13,381,601 (GRCm38)	missense	probably damaging	1.00
R1073:Mkl2	UTSW	16	13,412,318 (GRCm38)	missense	possibly damaging	0.89
R1423:Mkl2	UTSW	16	13,412,241 (GRCm38)	missense	possibly damaging	0.96
R1432:Mkl2	UTSW	16	13,401,002 (GRCm38)	missense	probably benign	0.01
R1459:Mkl2	UTSW	16	13,401,569 (GRCm38)	missense	possibly damaging	0.93
R1693:Mkl2	UTSW	16	13,398,471 (GRCm38)	missense	probably damaging	0.99
R1693:Mkl2	UTSW	16	13,398,470 (GRCm38)	missense	possibly damaging	0.67
R2006:Mkl2	UTSW	16	13,381,576 (GRCm38)	nonsense	probably null
R2076:Mkl2	UTSW	16	13,401,382 (GRCm38)	missense	probably benign	0.01
R2125:Mkl2	UTSW	16	13,400,804 (GRCm38)	missense	possibly damaging	0.94
R2145:Mkl2	UTSW	16	13,412,586 (GRCm38)	missense	probably damaging	0.98
R3722:Mkl2	UTSW	16	13,385,693 (GRCm38)	missense	probably damaging	1.00
R3883:Mkl2	UTSW	16	13,401,458 (GRCm38)	missense	probably damaging	0.99
R4088:Mkl2	UTSW	16	13,384,200 (GRCm38)	missense	probably damaging	0.98
R4204:Mkl2	UTSW	16	13,403,255 (GRCm38)	missense	possibly damaging	0.88
R4301:Mkl2	UTSW	16	13,398,305 (GRCm38)	missense	probably damaging	1.00
R4622:Mkl2	UTSW	16	13,332,706 (GRCm38)	missense	probably damaging	1.00
R4633:Mkl2	UTSW	16	13,379,873 (GRCm38)	missense	possibly damaging	0.95
R4765:Mkl2	UTSW	16	13,412,594 (GRCm38)	missense	probably damaging	1.00
R5201:Mkl2	UTSW	16	13,401,592 (GRCm38)	missense	probably benign	0.00
R5403:Mkl2	UTSW	16	13,401,013 (GRCm38)	missense	probably damaging	0.97
R5725:Mkl2	UTSW	16	13,384,310 (GRCm38)	nonsense	probably null
R6511:Mkl2	UTSW	16	13,379,850 (GRCm38)	missense	probably damaging	1.00
R7207:Mkl2	UTSW	16	13,326,436 (GRCm38)	missense	probably benign
R7269:Mkl2	UTSW	16	13,401,034 (GRCm38)	missense	possibly damaging	0.48
R7311:Mkl2	UTSW	16	13,405,854 (GRCm38)	nonsense	probably null
R7460:Mkl2	UTSW	16	13,400,976 (GRCm38)	missense	probably benign	0.00
R8480:Mkl2	UTSW	16	13,384,192 (GRCm38)	critical splice acceptor site	probably null
R9032:Mkl2	UTSW	16	13,412,228 (GRCm38)	missense	probably damaging	1.00
R9085:Mkl2	UTSW	16	13,412,228 (GRCm38)	missense	probably damaging	1.00
R9098:Mkl2	UTSW	16	13,403,189 (GRCm38)	missense	probably benign
R9229:Mkl2	UTSW	16	13,412,321 (GRCm38)	missense	possibly damaging	0.89
R9298:Mkl2	UTSW	16	13,384,218 (GRCm38)	missense	probably benign	0.10
R9343:Mkl2	UTSW	16	13,400,927 (GRCm38)	missense	probably benign	0.00
R9436:Mkl2	UTSW	16	13,405,287 (GRCm38)	nonsense	probably null
Z1177:Mkl2	UTSW	16	13,385,606 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCCCCATGTTGAAAATGC -3'
(R):5'- ACACTGCCATGTTTAGGATCTG -3'

Sequencing Primer
(F):5'- ATGTTGAAAATGCCCACTCTCC -3'
(R):5'- ATCACTGGGCTGAGGGTC -3'

Posted On

2022-03-25