Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Zyx'

697021

Institutional Source

Beutler Lab

Gene Symbol

Zyx

Ensembl Gene

ENSMUSG00000029860

Gene Name

zyxin

Synonyms

R75157

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42326564-42337147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42334818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 541 (D541E)

Ref Sequence

ENSEMBL: ENSMUSP00000126622 (fasta)

Gene Model

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

AlphaFold

Q62523

Predicted Effect

probably benign
Transcript: ENSMUST00000070635
AA Change: D510E

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: D510E

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 damaging
Transcript: ENSMUST00000164375
AA Change: D541E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: D541E

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: ENSMUST00000203401
AA Change: D510E

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: D510E

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

probably damaging
Transcript: ENSMUST00000203652
AA Change: D541E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: D541E

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	T	5: 105,121,962 (GRCm39)	D138E	probably benign	Het
Acvr2a	T	A	2: 48,760,307 (GRCm39)	I21K	probably damaging	Het
Adam30	C	G	3: 98,070,194 (GRCm39)	P676A	probably benign	Het
Ankrd28	A	C	14: 31,470,627 (GRCm39)	H145Q	probably damaging	Het
Ap3m2	A	G	8: 23,289,774 (GRCm39)	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,412,665 (GRCm39)	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,941,070 (GRCm39)	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,471,602 (GRCm39)	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,189,870 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,703,612 (GRCm39)	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Dbf4	A	G	5: 8,462,206 (GRCm39)	V105A	possibly damaging	Het
Disp2	T	A	2: 118,617,393 (GRCm39)	V129E	probably benign	Het
Dnah7b	T	C	1: 46,181,194 (GRCm39)	V1027A	probably damaging	Het
Dst	T	A	1: 34,231,818 (GRCm39)	I3137N	probably benign	Het
F5	A	G	1: 164,019,895 (GRCm39)	D790G	probably benign	Het
Fan1	A	G	7: 64,016,400 (GRCm39)	S575P	probably damaging	Het
Gemin5	C	T	11: 58,021,035 (GRCm39)	A1051T	probably benign	Het
Gsta4	A	G	9: 78,105,597 (GRCm39)	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,583,172 (GRCm39)	A211E	probably damaging	Het
Ifna1	A	T	4: 88,768,453 (GRCm39)	M44L	probably benign	Het
Ildr2	A	T	1: 166,122,283 (GRCm39)	D242V	probably damaging	Het
Kif27	G	T	13: 58,492,543 (GRCm39)	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,804,718 (GRCm39)	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,803,241 (GRCm39)	N173S	probably benign	Het
Mettl25b	A	G	3: 87,835,392 (GRCm39)		probably benign	Het
Mgat4c	A	T	10: 102,225,123 (GRCm39)	N446Y	probably benign	Het
Minar1	A	G	9: 89,485,394 (GRCm39)	M1T	probably null	Het
Mocs1	T	A	17: 49,756,801 (GRCm39)	M261K	probably damaging	Het
Nlrp10	A	T	7: 108,524,108 (GRCm39)	F457L	probably damaging	Het
Nlrp4e	C	T	7: 23,061,270 (GRCm39)	R954*	probably null	Het
Or4s2	T	C	2: 88,473,348 (GRCm39)	M79T	probably benign	Het
Pigu	T	C	2: 155,141,109 (GRCm39)	I261M	probably damaging	Het
Pkd1l3	T	A	8: 110,375,318 (GRCm39)	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,355,854 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,365 (GRCm39)	L388P	probably damaging	Het
Polg	A	T	7: 79,104,421 (GRCm39)	I818N	probably damaging	Het
Pramel46	A	T	5: 95,418,414 (GRCm39)	V194D	probably benign	Het
Radil	A	G	5: 142,480,722 (GRCm39)	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,639,084 (GRCm39)	D95G	probably damaging	Het
Rufy2	A	T	10: 62,836,166 (GRCm39)	Y365F	possibly damaging	Het
Ssc5d	A	G	7: 4,945,814 (GRCm39)	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833 (GRCm39)	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,063,994 (GRCm39)	T7142A	probably damaging	Het
Tert	A	T	13: 73,785,294 (GRCm39)		probably benign	Het
Tpbgl	A	T	7: 99,274,776 (GRCm39)	D360E	probably damaging	Het
Traj13	G	A	14: 54,443,248 (GRCm39)	V17I	unknown	Het
Trim13	G	A	14: 61,842,046 (GRCm39)	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,981,382 (GRCm39)	V357A	possibly damaging	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Zfp971	T	C	2: 177,674,736 (GRCm39)	F112L	probably damaging	Het
Znfx1	C	T	2: 166,879,738 (GRCm39)	C1546Y	probably damaging	Het
Znfx1	T	A	2: 166,880,137 (GRCm39)	E1413V	probably benign	Het
Zscan4c	A	G	7: 10,743,741 (GRCm39)	M447V	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
R4766:Zyx	UTSW	6	42,333,093 (GRCm39)	splice site	probably null
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
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'- TATGATCGGGAAGGACATCAGC -3'
(R):5'- AATACTTGTAGGCCATGCTGAGG -3'

Sequencing Primer
(F):5'- ATCGGGAAGGACATCAGCCTTTC -3'
(R):5'- TCAGGGCACTTGAGACTCG -3'

Posted On

2022-02-07