Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Zyx'

366140

Institutional Source

Beutler Lab

Gene Symbol

Zyx

Ensembl Gene

ENSMUSG00000029860

Gene Name

zyxin

Synonyms

R75157

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42326564-42337147 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 42333093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000203401] [ENSMUST00000203652] [ENSMUST00000204357] [ENSMUST00000203846]

AlphaFold

Q62523

Predicted Effect

probably null
Transcript: ENSMUST00000070635

SMART Domains

Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
low complexity region	199	220	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	323	333	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
LIM	375	428	2.4e-17	SMART
LIM	435	487	7.39e-18	SMART
LIM	495	557	9.31e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073387

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EPH_lbd	28	205	3.23e-103	SMART
FN3	334	430	8.43e-9	SMART
FN3	448	526	1.59e-4	SMART
Pfam:EphA2_TM	549	622	3.4e-13	PFAM
TyrKc	625	881	2.57e-126	SMART
SAM	911	977	4.13e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164375

SMART Domains

Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
low complexity region	199	220	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	323	333	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
LIM	375	428	2.4e-17	SMART
LIM	435	487	7.39e-18	SMART
LIM	495	557	9.31e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203290

Predicted Effect

probably null
Transcript: ENSMUST00000203401

SMART Domains

Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC
low complexity region	168	189	N/A	INTRINSIC
low complexity region	219	235	N/A	INTRINSIC
low complexity region	238	252	N/A	INTRINSIC
low complexity region	292	302	N/A	INTRINSIC
low complexity region	312	332	N/A	INTRINSIC
LIM	344	397	2.4e-17	SMART
LIM	404	456	7.39e-18	SMART
LIM	464	526	9.31e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203626

Predicted Effect

probably null
Transcript: ENSMUST00000203652

SMART Domains

Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC
low complexity region	199	220	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	323	333	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
LIM	375	428	2.4e-17	SMART
LIM	435	487	7.39e-18	SMART
LIM	495	557	9.31e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204480

Predicted Effect

probably benign
Transcript: ENSMUST00000204357

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EPH_lbd	28	205	1.1e-105	SMART
FN3	334	430	4.2e-11	SMART
low complexity region	459	473	N/A	INTRINSIC
FN3	483	563	2.4e-8	SMART
Pfam:EphA2_TM	586	659	7.6e-11	PFAM
STYKc	662	849	1.1e-65	SMART
SAM	879	945	2.5e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204270

Predicted Effect

probably benign
Transcript: ENSMUST00000203846

SMART Domains

Protein: ENSMUSP00000145189
Gene: ENSMUSG00000029860

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	61	84	N/A	INTRINSIC
low complexity region	92	131	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	174	186	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking functional copies of this gene are viable, fertile, and develop normally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Capn10	T	C	1: 92,871,141 (GRCm39)	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,236,016 (GRCm39)	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or4k48	T	C	2: 111,476,226 (GRCm39)	M39V	probably benign	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307 (GRCm39)	T76A	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zfp512b	T	C	2: 181,226,888 (GRCm39)		probably benign	Het

Other mutations in Zyx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Zyx	APN	6	42,327,378 (GRCm39)	missense	probably damaging	0.99
IGL02418:Zyx	APN	6	42,334,327 (GRCm39)	missense	probably damaging	1.00
IGL03090:Zyx	APN	6	42,334,276 (GRCm39)	nonsense	probably null
R0282:Zyx	UTSW	6	42,332,939 (GRCm39)	missense	probably damaging	1.00
R0449:Zyx	UTSW	6	42,328,247 (GRCm39)	missense	probably damaging	1.00
R1496:Zyx	UTSW	6	42,333,246 (GRCm39)	missense	probably damaging	1.00
R1666:Zyx	UTSW	6	42,332,966 (GRCm39)	missense	possibly damaging	0.48
R1668:Zyx	UTSW	6	42,332,966 (GRCm39)	missense	possibly damaging	0.48
R1956:Zyx	UTSW	6	42,328,289 (GRCm39)	missense	probably damaging	1.00
R4272:Zyx	UTSW	6	42,327,880 (GRCm39)	missense	probably damaging	1.00
R4817:Zyx	UTSW	6	42,333,421 (GRCm39)	missense	probably damaging	1.00
R5216:Zyx	UTSW	6	42,333,466 (GRCm39)	missense	probably damaging	0.96
R6981:Zyx	UTSW	6	42,327,291 (GRCm39)	missense	unknown
R7331:Zyx	UTSW	6	42,328,593 (GRCm39)	missense	probably benign	0.03
R7553:Zyx	UTSW	6	42,327,408 (GRCm39)	missense	probably null	0.99
R7665:Zyx	UTSW	6	42,333,096 (GRCm39)	missense	probably damaging	0.99
R7962:Zyx	UTSW	6	42,333,505 (GRCm39)	missense	probably damaging	1.00
R8410:Zyx	UTSW	6	42,333,384 (GRCm39)	missense	probably benign	0.39
R9181:Zyx	UTSW	6	42,334,818 (GRCm39)	missense	probably damaging	1.00
RF020:Zyx	UTSW	6	42,334,330 (GRCm39)	missense	probably damaging	1.00
X0022:Zyx	UTSW	6	42,332,960 (GRCm39)	missense	probably benign	0.01
X0028:Zyx	UTSW	6	42,328,012 (GRCm39)	missense	probably damaging	0.99
X0064:Zyx	UTSW	6	42,334,249 (GRCm39)	missense	probably benign	0.08
Z1176:Zyx	UTSW	6	42,333,442 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGATGCAGGACATGGAAC -3'
(R):5'- AGTATCTTCCAAGATTCATCCGG -3'

Sequencing Primer
(F):5'- TGGAACACCCTCAGAGGCAG -3'
(R):5'- ACAGACTTACGGTGTAGCAGCC -3'

Posted On

2015-12-21