Incidental Mutation 'R1668:Zyx'
ID 187356
Institutional Source Beutler Lab
Gene Symbol Zyx
Ensembl Gene ENSMUSG00000029860
Gene Name zyxin
Synonyms R75157
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42326564-42337147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42332966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 372 (V372E)
Ref Sequence ENSEMBL: ENSMUSP00000145451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000203329] [ENSMUST00000203401] [ENSMUST00000203652] [ENSMUST00000204357] [ENSMUST00000203846] [ENSMUST00000203849]
AlphaFold Q62523
Predicted Effect probably benign
Transcript: ENSMUST00000070635
AA Change: V341E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: V341E

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 probably benign
Transcript: ENSMUST00000073387
SMART Domains Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000164375
AA Change: V372E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: V372E

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 noncoding transcript
Transcript: ENSMUST00000203290
Predicted Effect probably benign
Transcript: ENSMUST00000203329
SMART Domains Protein: ENSMUSP00000144863
Gene: ENSMUSG00000029860

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 probably benign
Transcript: ENSMUST00000203401
AA Change: V341E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: V341E

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 possibly damaging
Transcript: ENSMUST00000203652
AA Change: V372E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: V372E

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 probably benign
Transcript: ENSMUST00000204357
SMART Domains Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000203846
SMART Domains Protein: ENSMUSP00000145189
Gene: ENSMUSG00000029860

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 noncoding transcript
Transcript: ENSMUST00000204270
Predicted Effect probably benign
Transcript: ENSMUST00000203849
SMART Domains Protein: ENSMUSP00000145052
Gene: ENSMUSG00000029860

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203626
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A 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
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
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'- AGGGGTCAATCTATGCTTCCCGTC -3'
(R):5'- GCTGATTGCATTTGCCACAGGAC -3'

Sequencing Primer
(F):5'- gcgtgCCATCACATGCTC -3'
(R):5'- ATTTGCCACAGGACTCTGG -3'
Posted On 2014-05-09