Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Myzap'

734828

Institutional Source

Beutler Lab

Gene Symbol

Myzap

Ensembl Gene

ENSMUSG00000041361

Gene Name

myocardial zonula adherens protein

Synonyms

Gcom1, Myozap, Grinl1a7

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71411629-71499642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71487082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 15 (M15K)

Ref Sequence

ENSEMBL: ENSMUSP00000131906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093823] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166112] [ENSMUST00000166843] [ENSMUST00000169573] [ENSMUST00000171977]

AlphaFold

Q3UIJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000093823

SMART Domains

Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	416	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163998

SMART Domains

Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
coiled coil region	105	138	N/A	INTRINSIC
coiled coil region	187	415	N/A	INTRINSIC
coiled coil region	483	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164962

SMART Domains

Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	390	7.5e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165936

SMART Domains

Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	379	4.2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166112

Predicted Effect

probably benign
Transcript: ENSMUST00000166843

SMART Domains

Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	416	4.6e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169573

SMART Domains

Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361

Domain	Start	End	E-Value	Type
Pfam:GCOM2	96	388	6.6e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171977
AA Change: M15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous KO results in a maladaptive response to increased biomechanical stress, resulting in adverse cardiac remodeling, contractile dysfunction, heart failure, and increased mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	probably benign	Het

Other mutations in Myzap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Myzap	APN	9	71,462,953 (GRCm39)	missense	probably benign	0.06
IGL01077:Myzap	APN	9	71,454,042 (GRCm39)	missense	probably damaging	1.00
IGL01478:Myzap	APN	9	71,422,349 (GRCm39)	critical splice donor site	probably null
IGL02146:Myzap	APN	9	71,471,730 (GRCm39)	missense	probably benign	0.43
IGL02715:Myzap	APN	9	71,422,397 (GRCm39)	nonsense	probably null
IGL03218:Myzap	APN	9	71,462,871 (GRCm39)	missense	probably benign	0.40
R0674:Myzap	UTSW	9	71,422,426 (GRCm39)	missense	probably damaging	1.00
R2298:Myzap	UTSW	9	71,456,039 (GRCm39)	missense	probably damaging	0.98
R4463:Myzap	UTSW	9	71,462,933 (GRCm39)	missense	probably benign	0.00
R4470:Myzap	UTSW	9	71,499,563 (GRCm39)	unclassified	probably benign
R4548:Myzap	UTSW	9	71,457,528 (GRCm39)	missense	possibly damaging	0.67
R4841:Myzap	UTSW	9	71,456,037 (GRCm39)	missense	probably damaging	1.00
R4842:Myzap	UTSW	9	71,456,037 (GRCm39)	missense	probably damaging	1.00
R6284:Myzap	UTSW	9	71,466,207 (GRCm39)	missense	probably benign	0.21
R6307:Myzap	UTSW	9	71,466,146 (GRCm39)	missense	possibly damaging	0.92
R7427:Myzap	UTSW	9	71,412,465 (GRCm39)	missense	probably benign	0.00
R7489:Myzap	UTSW	9	71,468,320 (GRCm39)	missense	probably benign	0.09
R8958:Myzap	UTSW	9	71,457,485 (GRCm39)	missense	possibly damaging	0.95
R9281:Myzap	UTSW	9	71,493,482 (GRCm39)	missense	unknown
X0018:Myzap	UTSW	9	71,457,577 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AGATGGCTCACCTGATCTTTCC -3'
(R):5'- ATCTCTCCAGTGGAATTTTGGC -3'

Sequencing Primer
(F):5'- GGCTCACCTGATCTTTCCTTTCG -3'
(R):5'- CTCTCCAGTGGAATTTTGGCTTTTG -3'

Posted On

2022-11-14