Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Myoz1'

179150

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myoz1

Ensembl Gene

ENSMUSG00000068697

Gene Name

myozenin 1

Synonyms

2310001N11Rik, FATZ, calsarcin-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

20699175-20706608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20705377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 14 (K14E)

Ref Sequence

ENSEMBL: ENSMUSP00000087955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057090] [ENSMUST00000090469] [ENSMUST00000117386] [ENSMUST00000119483]

AlphaFold

Q9JK37

Predicted Effect

probably benign
Transcript: ENSMUST00000057090

SMART Domains

Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376

Domain	Start	End	E-Value	Type
PDZ	15	85	3.52e-10	SMART
low complexity region	101	112	N/A	INTRINSIC
low complexity region	151	162	N/A	INTRINSIC
low complexity region	202	230	N/A	INTRINSIC
low complexity region	243	257	N/A	INTRINSIC
low complexity region	429	444	N/A	INTRINSIC
low complexity region	500	518	N/A	INTRINSIC
low complexity region	530	540	N/A	INTRINSIC
low complexity region	563	580	N/A	INTRINSIC
low complexity region	591	604	N/A	INTRINSIC
low complexity region	700	726	N/A	INTRINSIC
low complexity region	781	797	N/A	INTRINSIC
low complexity region	867	880	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000090469
AA Change: K14E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697
AA Change: K14E

Domain	Start	End	E-Value	Type
Pfam:Calsarcin	1	296	1.9e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117386

SMART Domains

Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376

Domain	Start	End	E-Value	Type
PDZ	15	88	1.34e-15	SMART
low complexity region	104	115	N/A	INTRINSIC
low complexity region	154	165	N/A	INTRINSIC
low complexity region	205	233	N/A	INTRINSIC
low complexity region	246	260	N/A	INTRINSIC
low complexity region	432	447	N/A	INTRINSIC
low complexity region	503	521	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	566	583	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	703	729	N/A	INTRINSIC
low complexity region	784	800	N/A	INTRINSIC
low complexity region	870	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119483

SMART Domains

Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376

Domain	Start	End	E-Value	Type
low complexity region	203	218	N/A	INTRINSIC
low complexity region	274	292	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC
low complexity region	337	354	N/A	INTRINSIC
low complexity region	365	378	N/A	INTRINSIC
low complexity region	474	500	N/A	INTRINSIC
low complexity region	555	571	N/A	INTRINSIC
low complexity region	641	654	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225231

Meta Mutation Damage Score

0.2295

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight and fast-twitch muscle mass, a fiber type shift toward more oxidative fibers, increased exercise capacity and calcineurin activity, and enhanced muscle regeneration after cardiotoxin injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,625,592 (GRCm39)	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,612,318 (GRCm39)	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850 (GRCm39)	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613 (GRCm39)	N768K	probably damaging	Het
Clec7a	A	T	6: 129,440,140 (GRCm39)		probably benign	Het
Cyp3a13	G	A	5: 137,897,082 (GRCm39)	P411S	probably damaging	Het
Elavl2	A	G	4: 91,152,330 (GRCm39)	V129A	probably damaging	Het
Ercc6	T	A	14: 32,291,537 (GRCm39)	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262 (GRCm39)	K8I	probably damaging	Het
Esr1	T	A	10: 4,806,861 (GRCm39)	I259K	probably damaging	Het
Filip1l	A	G	16: 57,391,613 (GRCm39)	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814 (GRCm39)	I891F	probably damaging	Het
Kat7	T	C	11: 95,196,959 (GRCm39)	T27A	probably benign	Het
Kdm1a	A	G	4: 136,288,327 (GRCm39)		probably null	Het
Kifc5b	T	C	17: 27,151,091 (GRCm39)	V663A	probably damaging	Het
Lama1	T	G	17: 68,114,792 (GRCm39)	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984 (GRCm39)	V279I	probably benign	Het
Mast3	A	T	8: 71,234,783 (GRCm39)	L774Q	possibly damaging	Het
Med27	C	A	2: 29,303,494 (GRCm39)	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,076,372 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,073,857 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,014,327 (GRCm39)	T308A	probably benign	Het
Or1l4b	A	G	2: 37,036,521 (GRCm39)	Y99C	probably damaging	Het
Or8d2b	G	T	9: 38,788,844 (GRCm39)	C124F	probably damaging	Het
Orc1	T	A	4: 108,461,154 (GRCm39)		probably null	Het
Pnkp	G	A	7: 44,511,631 (GRCm39)	A76T	probably damaging	Het
Polr3h	T	C	15: 81,801,591 (GRCm39)	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,202,328 (GRCm39)	M62K	unknown	Het
Prpf8	C	A	11: 75,386,570 (GRCm39)	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280 (GRCm38)	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,169,612 (GRCm39)	N778K	probably damaging	Het
Riok3	T	A	18: 12,272,442 (GRCm39)	N204K	probably damaging	Het
Shank3	A	G	15: 89,415,866 (GRCm39)	K650E	probably damaging	Het
Sim1	T	A	10: 50,860,411 (GRCm39)	S758T	probably damaging	Het
Slu7	T	G	11: 43,330,087 (GRCm39)	N171K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sult6b2	A	G	6: 142,735,852 (GRCm39)		probably null	Het
Taf6l	C	T	19: 8,755,450 (GRCm39)		probably null	Het
Ubtfl1	G	A	9: 18,321,017 (GRCm39)	V182M	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Myoz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0081:Myoz1	UTSW	14	20,699,622 (GRCm39)	missense	probably benign	0.08
R0826:Myoz1	UTSW	14	20,703,679 (GRCm39)	splice site	probably benign
R0893:Myoz1	UTSW	14	20,701,252 (GRCm39)	missense	probably benign	0.16
R1029:Myoz1	UTSW	14	20,700,600 (GRCm39)	missense	probably damaging	1.00
R3078:Myoz1	UTSW	14	20,703,685 (GRCm39)	splice site	probably benign
R4584:Myoz1	UTSW	14	20,700,663 (GRCm39)	missense	probably damaging	1.00
R4585:Myoz1	UTSW	14	20,700,663 (GRCm39)	missense	probably damaging	1.00
R4586:Myoz1	UTSW	14	20,700,663 (GRCm39)	missense	probably damaging	1.00
R4830:Myoz1	UTSW	14	20,705,377 (GRCm39)	missense	probably damaging	0.98
R4912:Myoz1	UTSW	14	20,699,606 (GRCm39)	missense	probably damaging	1.00
R5001:Myoz1	UTSW	14	20,703,769 (GRCm39)	missense	probably damaging	0.99
R5015:Myoz1	UTSW	14	20,703,787 (GRCm39)	missense	probably benign	0.42
R5120:Myoz1	UTSW	14	20,700,722 (GRCm39)	missense	probably benign	0.00
R6682:Myoz1	UTSW	14	20,703,687 (GRCm39)	splice site	probably null
R7097:Myoz1	UTSW	14	20,699,477 (GRCm39)	missense	possibly damaging	0.92
R9400:Myoz1	UTSW	14	20,699,504 (GRCm39)	missense	probably benign

Posted On

2014-05-07