Incidental Mutation 'IGL00426:Myzap'
ID 6155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myzap
Ensembl Gene ENSMUSG00000041361
Gene Name myocardial zonula adherens protein
Synonyms Gcom1, Myozap, Grinl1a7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL00426
Quality Score
Status
Chromosome 9
Chromosomal Location 71411629-71499642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71462953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 198 (T198A)
Ref Sequence ENSEMBL: ENSMUSP00000131267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093823] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166843] [ENSMUST00000169573]
AlphaFold Q3UIJ9
Predicted Effect probably benign
Transcript: ENSMUST00000093823
AA Change: T198A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
AA Change: T198A

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 1.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163708
Predicted Effect probably benign
Transcript: ENSMUST00000163998
AA Change: T198A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
AA Change: T198A

DomainStartEndE-ValueType
coiled coil region 105 138 N/A INTRINSIC
coiled coil region 187 415 N/A INTRINSIC
coiled coil region 483 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164962
AA Change: T198A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137
AA Change: T198A

DomainStartEndE-ValueType
Pfam:GCOM2 96 390 7.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165936
AA Change: T198A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137
AA Change: T198A

DomainStartEndE-ValueType
Pfam:GCOM2 96 379 4.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166843
AA Change: T198A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
AA Change: T198A

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 4.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169573
AA Change: T198A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
AA Change: T198A

DomainStartEndE-ValueType
Pfam:GCOM2 96 388 6.6e-68 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous KO results in a maladaptive response to increased biomechanical stress, resulting in adverse cardiac remodeling, contractile dysfunction, heart failure, and increased mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,818,278 (GRCm39) E313K probably damaging Het
Aadacl2fm2 T A 3: 59,659,542 (GRCm39) L332I possibly damaging Het
Adgrl2 A G 3: 148,571,244 (GRCm39) V130A probably damaging Het
Arhgef28 G A 13: 98,124,785 (GRCm39) A499V probably benign Het
Ceacam18 C T 7: 43,288,780 (GRCm39) T177I probably benign Het
Cspp1 G A 1: 10,182,776 (GRCm39) probably benign Het
Cyp2j7 A T 4: 96,115,749 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,115,750 (GRCm39) probably null Het
Dip2c T C 13: 9,656,551 (GRCm39) F821L probably damaging Het
Lrig3 A T 10: 125,808,006 (GRCm39) R85* probably null Het
Mcf2l A G 8: 13,034,910 (GRCm39) D106G probably damaging Het
Mdn1 T C 4: 32,719,214 (GRCm39) V2259A possibly damaging Het
Mmp16 C T 4: 18,011,784 (GRCm39) P233L probably benign Het
Mrpl27 A G 11: 94,550,523 (GRCm39) N110S probably benign Het
Myom2 T C 8: 15,119,502 (GRCm39) M131T probably benign Het
Nek8 T C 11: 78,058,653 (GRCm39) Q549R probably damaging Het
Nr1d2 A G 14: 18,215,502 (GRCm38) probably benign Het
Nup155 T C 15: 8,186,278 (GRCm39) *1347Q probably null Het
Pkd2l1 C T 19: 44,144,044 (GRCm39) R343H probably benign Het
Ppfibp2 T A 7: 107,308,012 (GRCm39) L215H probably damaging Het
Ralgds T C 2: 28,442,230 (GRCm39) L137P probably damaging Het
Rasa2 C T 9: 96,426,913 (GRCm39) D752N probably damaging Het
Spg11 T C 2: 121,896,041 (GRCm39) K1726E probably damaging Het
St6gal1 G A 16: 23,175,142 (GRCm39) probably benign Het
Tmem183a A G 1: 134,277,882 (GRCm39) L294P probably damaging Het
Trav19 T C 14: 54,083,141 (GRCm39) L72P probably damaging Het
Vapa T C 17: 65,900,476 (GRCm39) T99A possibly damaging Het
Other mutations in Myzap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Myzap APN 9 71,454,042 (GRCm39) missense probably damaging 1.00
IGL01478:Myzap APN 9 71,422,349 (GRCm39) critical splice donor site probably null
IGL02146:Myzap APN 9 71,471,730 (GRCm39) missense probably benign 0.43
IGL02715:Myzap APN 9 71,422,397 (GRCm39) nonsense probably null
IGL03218:Myzap APN 9 71,462,871 (GRCm39) missense probably benign 0.40
R0674:Myzap UTSW 9 71,422,426 (GRCm39) missense probably damaging 1.00
R2298:Myzap UTSW 9 71,456,039 (GRCm39) missense probably damaging 0.98
R4463:Myzap UTSW 9 71,462,933 (GRCm39) missense probably benign 0.00
R4470:Myzap UTSW 9 71,499,563 (GRCm39) unclassified probably benign
R4548:Myzap UTSW 9 71,457,528 (GRCm39) missense possibly damaging 0.67
R4841:Myzap UTSW 9 71,456,037 (GRCm39) missense probably damaging 1.00
R4842:Myzap UTSW 9 71,456,037 (GRCm39) missense probably damaging 1.00
R6284:Myzap UTSW 9 71,466,207 (GRCm39) missense probably benign 0.21
R6307:Myzap UTSW 9 71,466,146 (GRCm39) missense possibly damaging 0.92
R7427:Myzap UTSW 9 71,412,465 (GRCm39) missense probably benign 0.00
R7489:Myzap UTSW 9 71,468,320 (GRCm39) missense probably benign 0.09
R8958:Myzap UTSW 9 71,457,485 (GRCm39) missense possibly damaging 0.95
R9281:Myzap UTSW 9 71,493,482 (GRCm39) missense unknown
R9794:Myzap UTSW 9 71,487,082 (GRCm39) missense probably benign 0.00
X0018:Myzap UTSW 9 71,457,577 (GRCm39) missense probably benign 0.25
Posted On 2012-04-20