Mutagenetix > Incidental Mutation

Incidental Mutation 'R6307:Myzap'

509481

Institutional Source

Beutler Lab

Gene Symbol

Myzap

Ensembl Gene

ENSMUSG00000041361

Gene Name

myocardial zonula adherens protein

Synonyms

Gcom1, Myozap, Grinl1a7

MMRRC Submission

044412-MU

Accession Numbers

Essential gene?

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

Stock #

R6307 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

71411629-71499642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71466146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 170 (D170G)

Ref Sequence

ENSEMBL: ENSMUSP00000127028 (fasta)

Gene Model

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

AlphaFold

Q3UIJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093823
AA Change: D170G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
AA Change: D170G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163708

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163998
AA Change: D170G

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
AA Change: D170G

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

possibly damaging
Transcript: ENSMUST00000164962
AA Change: D170G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137
AA Change: D170G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165936
AA Change: D170G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137
AA Change: D170G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166843
AA Change: D170G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
AA Change: D170G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169573
AA Change: D170G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
AA Change: D170G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171977

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,843,221 (GRCm39)	L1232P	probably damaging	Het
Akap6	A	T	12: 53,188,351 (GRCm39)	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,647,206 (GRCm39)	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,510,090 (GRCm39)	V430F	probably benign	Het
Bod1	A	G	11: 31,616,932 (GRCm39)	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,590,914 (GRCm39)	V1453F	probably damaging	Het
Capn8	T	A	1: 182,435,264 (GRCm39)	M414K	probably damaging	Het
Cbl	A	T	9: 44,069,809 (GRCm39)		probably null	Het
Ccdc42	A	T	11: 68,479,106 (GRCm39)	Q98L	probably damaging	Het
Ccn3	T	C	15: 54,611,421 (GRCm39)		probably null	Het
Cd200	C	A	16: 45,217,545 (GRCm39)	V49L	probably benign	Het
Celsr1	A	G	15: 85,812,531 (GRCm39)	S2060P	probably benign	Het
Ces1g	A	T	8: 94,057,820 (GRCm39)	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,668,831 (GRCm39)	H161Q	probably damaging	Het
Ctns	G	A	11: 73,082,559 (GRCm39)	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,057,871 (GRCm39)	F536L	probably benign	Het
Dcc	C	T	18: 71,943,826 (GRCm39)	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,289,990 (GRCm39)	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,269,757 (GRCm39)	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,849,507 (GRCm39)	V17G	possibly damaging	Het
Farsa	T	C	8: 85,587,674 (GRCm39)		probably null	Het
Fat2	G	C	11: 55,172,106 (GRCm39)	T2869S	possibly damaging	Het
Fgg	A	T	3: 82,920,283 (GRCm39)	Q354L	probably damaging	Het
Folh1	T	C	7: 86,372,517 (GRCm39)	D679G	probably damaging	Het
Gbp4	T	A	5: 105,270,975 (GRCm39)	R83*	probably null	Het
Gm17482	T	A	6: 115,204,311 (GRCm39)		probably benign	Het
Hmgxb4	T	A	8: 75,749,927 (GRCm39)	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,552,619 (GRCm39)	Y926D	probably damaging	Het
Ikzf5	T	A	7: 130,993,377 (GRCm39)	N264Y	probably damaging	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Krt33b	A	T	11: 99,915,694 (GRCm39)	C351S	probably benign	Het
Lrp1	T	C	10: 127,427,944 (GRCm39)	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,053,021 (GRCm39)	R339W	probably damaging	Het
Mapk3	T	G	7: 126,363,454 (GRCm39)	M276R	probably benign	Het
Mgst1	T	C	6: 138,127,827 (GRCm39)	V137A	probably benign	Het
Muc16	T	C	9: 18,558,884 (GRCm39)	T2470A	unknown	Het
Muc4	C	T	16: 32,575,237 (GRCm39)	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,180,198 (GRCm39)	K713T	possibly damaging	Het
Naa50	T	C	16: 43,979,831 (GRCm39)	V113A	probably damaging	Het
Neu3	T	C	7: 99,462,929 (GRCm39)	T265A	probably benign	Het
Nin	T	C	12: 70,061,631 (GRCm39)	T2078A	possibly damaging	Het
Nomo1	G	A	7: 45,683,260 (GRCm39)		probably benign	Het
Nprl3	A	G	11: 32,189,828 (GRCm39)	L273P	probably damaging	Het
Oaf	T	A	9: 43,136,216 (GRCm39)	H120L	possibly damaging	Het
Or10s1	T	C	9: 39,985,824 (GRCm39)	S78P	probably damaging	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k21	T	C	2: 86,145,468 (GRCm39)	H54R	probably benign	Het
Pcdhga3	T	A	18: 37,809,674 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,837,718 (GRCm39)		probably null	Het
Prdm8	C	T	5: 98,333,162 (GRCm39)	P243L	possibly damaging	Het
Prim2	T	C	1: 33,701,373 (GRCm39)	D138G	probably benign	Het
Prl2c5	A	G	13: 13,365,175 (GRCm39)	E107G	probably benign	Het
Prr14l	T	A	5: 32,984,869 (GRCm39)	H1542L	probably damaging	Het
Rab26	T	C	17: 24,749,072 (GRCm39)	E203G	probably damaging	Het
Rtkn2	A	T	10: 67,871,662 (GRCm39)	H350L	possibly damaging	Het
Scara3	T	C	14: 66,175,710 (GRCm39)	D19G	probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059 (GRCm39)	M93V	probably benign	Het
Sema6a	C	A	18: 47,382,231 (GRCm39)	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,584,006 (GRCm39)	K428R	probably benign	Het
Sptbn2	G	A	19: 4,774,674 (GRCm39)	G109D	probably damaging	Het
Tmppe	T	C	9: 114,233,812 (GRCm39)	L37P	probably benign	Het
Tuba1a	T	C	15: 98,849,410 (GRCm39)	T56A	probably benign	Het
Tut4	T	A	4: 108,412,817 (GRCm39)	I1506N	probably damaging	Het
Vmn2r111	A	G	17: 22,792,070 (GRCm39)	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,506,828 (GRCm39)	I828T	probably damaging	Het
Vmn2r79	T	A	7: 86,686,976 (GRCm39)	W786R	probably damaging	Het
Zp1	G	A	19: 10,894,084 (GRCm39)	T405M	probably null	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
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
R9794:Myzap	UTSW	9	71,487,082 (GRCm39)	missense	probably benign	0.00
X0018:Myzap	UTSW	9	71,457,577 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ACCTTCCAGAAACCGTCTTTAC -3'
(R):5'- CCCCAGATGTTGGTTTGTATGC -3'

Sequencing Primer
(F):5'- AGAAACCGTCTTTACTGTGGC -3'
(R):5'- ATATGACTGCTCTCAGAAGATTTCCC -3'

Posted On

2018-04-02