Incidental Mutation 'R6981:Zyx'
ID 542669
Institutional Source Beutler Lab
Gene Symbol Zyx
Ensembl Gene ENSMUSG00000029860
Gene Name zyxin
Synonyms R75157
MMRRC Submission 045089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6981 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 42326564-42337147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42327291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 30 (V30E)
Ref Sequence ENSEMBL: ENSMUSP00000145052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000164375] [ENSMUST00000203329] [ENSMUST00000203401] [ENSMUST00000203652] [ENSMUST00000203846] [ENSMUST00000203849]
AlphaFold Q62523
Predicted Effect unknown
Transcript: ENSMUST00000070635
AA Change: V30E
SMART Domains Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000164375
AA Change: V30E
SMART Domains Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000203329
AA Change: V30E
SMART Domains Protein: ENSMUSP00000144863
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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
Predicted Effect unknown
Transcript: ENSMUST00000203401
AA Change: V30E
SMART Domains Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000203652
AA Change: V30E
SMART Domains Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000203846
AA Change: V30E
SMART Domains Protein: ENSMUSP00000145189
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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
Predicted Effect unknown
Transcript: ENSMUST00000203849
AA Change: V30E
SMART Domains Protein: ENSMUSP00000145052
Gene: ENSMUSG00000029860
AA Change: V30E

DomainStartEndE-ValueType
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 92 109 N/A INTRINSIC
Meta Mutation Damage Score 0.0910 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 99% (68/69)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,184,544 (GRCm39) probably benign Het
5031439G07Rik A C 15: 84,833,798 (GRCm39) Y419* probably null Het
Abca2 T A 2: 25,334,151 (GRCm39) F1809L probably damaging Het
Ache C T 5: 137,289,940 (GRCm39) T423I probably benign Het
Acvrl1 A G 15: 101,036,226 (GRCm39) T395A probably damaging Het
Ap3b2 A G 7: 81,127,741 (GRCm39) I145T probably damaging Het
Arhgef4 A C 1: 34,761,533 (GRCm39) Q263P unknown Het
Asgr2 C T 11: 69,987,636 (GRCm39) L45F probably damaging Het
Baiap2l1 T A 5: 144,222,389 (GRCm39) Y122F possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Car8 A T 4: 8,185,650 (GRCm39) probably null Het
Carns1 T C 19: 4,220,081 (GRCm39) T385A probably benign Het
Ccdc47 T C 11: 106,093,563 (GRCm39) T41A probably benign Het
Ccne1 A T 7: 37,797,998 (GRCm39) probably benign Het
Cdh4 C T 2: 179,439,297 (GRCm39) T148I probably benign Het
Cep85 C T 4: 133,879,572 (GRCm39) R392Q probably damaging Het
Ces1h T C 8: 94,080,123 (GRCm39) T464A unknown Het
Cfl1 T A 19: 5,542,644 (GRCm39) S41R possibly damaging Het
Crnn T C 3: 93,055,442 (GRCm39) V76A probably damaging Het
Cspg4 A G 9: 56,794,385 (GRCm39) T707A probably benign Het
Dgkh A T 14: 78,865,182 (GRCm39) C53* probably null Het
Dhx34 G T 7: 15,949,255 (GRCm39) A391E possibly damaging Het
Dlx1 C A 2: 71,362,697 (GRCm39) N201K probably benign Het
Dnah6 T C 6: 72,998,161 (GRCm39) E4087G probably benign Het
Dock6 T C 9: 21,756,846 (GRCm39) Y134C probably damaging Het
Duox2 A G 2: 122,121,708 (GRCm39) V662A possibly damaging Het
Dusp12 A G 1: 170,708,530 (GRCm39) F12L probably damaging Het
Eppk1 T C 15: 75,995,237 (GRCm39) E548G probably benign Het
Foxj2 A G 6: 122,819,798 (GRCm39) D562G probably benign Het
Foxj2 A G 6: 122,805,403 (GRCm39) I92V probably damaging Het
Gm17728 A G 17: 9,640,991 (GRCm39) R34G probably damaging Het
Gpc6 T C 14: 117,861,960 (GRCm39) I292T probably damaging Het
Gpr15 T A 16: 58,538,548 (GRCm39) K180N probably benign Het
Gtf2ird1 G T 5: 134,412,776 (GRCm39) probably benign Het
H2ac12 A G 13: 22,219,719 (GRCm39) S2P probably benign Het
Hps3 T A 3: 20,076,984 (GRCm39) T393S probably damaging Het
Hspa1a A T 17: 35,189,267 (GRCm39) probably null Het
Hydin A G 8: 111,257,704 (GRCm39) E2378G possibly damaging Het
Ighv1-18 A G 12: 114,646,298 (GRCm39) L102P probably damaging Het
Itga5 T A 15: 103,258,653 (GRCm39) N814I probably benign Het
Kcnb2 T C 1: 15,780,480 (GRCm39) S451P probably damaging Het
Klhl32 T G 4: 24,709,030 (GRCm39) I112L probably damaging Het
Knstrn T G 2: 118,664,575 (GRCm39) I47R possibly damaging Het
Med23 T A 10: 24,771,722 (GRCm39) S581T possibly damaging Het
Mgat5 C T 1: 127,318,588 (GRCm39) T361I probably damaging Het
Nipal3 A G 4: 135,206,858 (GRCm39) V112A probably damaging Het
Or10a5 T A 7: 106,635,956 (GRCm39) V198D possibly damaging Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or4k41 T C 2: 111,279,697 (GRCm39) F71L probably benign Het
Or5g27 A G 2: 85,409,825 (GRCm39) M81V probably benign Het
Paxip1 G A 5: 27,970,766 (GRCm39) Q528* probably null Het
Proser2 T C 2: 6,118,801 (GRCm39) D14G probably damaging Het
Rp1 T G 1: 4,415,878 (GRCm39) I1745L probably benign Het
Rxfp2 G T 5: 149,972,313 (GRCm39) probably null Het
Slc45a1 T C 4: 150,723,051 (GRCm39) S278G possibly damaging Het
Smurf1 A G 5: 144,823,179 (GRCm39) I455T possibly damaging Het
Speg T C 1: 75,407,557 (GRCm39) L3188P probably damaging Het
Tcaf3 G T 6: 42,574,059 (GRCm39) A51D probably damaging Het
Tecrl T C 5: 83,502,768 (GRCm39) N12S possibly damaging Het
Tmem17 T A 11: 22,468,508 (GRCm39) I149N possibly damaging Het
Tmem171 A G 13: 98,828,976 (GRCm39) V58A possibly damaging Het
Ttn A G 2: 76,691,521 (GRCm39) probably benign Het
Ubqln5 A G 7: 103,777,808 (GRCm39) S339P probably benign Het
Vmn1r16 T A 6: 57,300,473 (GRCm39) I50L probably benign Het
Vmn2r103 A T 17: 20,013,739 (GRCm39) Y177F probably benign Het
Zfp28 C A 7: 6,397,692 (GRCm39) T709K probably damaging Het
Zfp958 A G 8: 4,676,170 (GRCm39) N46S probably benign Het
Other mutations in Zyx
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCGCTCCTTGTATGGTCTGG -3'
(R):5'- CCGCAACAGCCTTTTCAGAC -3'

Sequencing Primer
(F):5'- TTGGCTAGAAGCGGCTCC -3'
(R):5'- GCCTTTTCAGACAACCCCAAATTC -3'
Posted On 2018-11-28