Incidental Mutation 'R7489:Myzap'
ID 580420
Institutional Source Beutler Lab
Gene Symbol Myzap
Ensembl Gene ENSMUSG00000041361
Gene Name myocardial zonula adherens protein
Synonyms Gcom1, Myozap, Grinl1a7
MMRRC Submission 045563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R7489 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 71411629-71499642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71468320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 110 (T110S)
Ref Sequence ENSEMBL: ENSMUSP00000091342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093823] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166112] [ENSMUST00000166843] [ENSMUST00000169573] [ENSMUST00000171977]
AlphaFold Q3UIJ9
Predicted Effect probably benign
Transcript: ENSMUST00000093823
AA Change: T110S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
AA Change: T110S

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 1.1e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163998
AA Change: T110S

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
AA Change: T110S

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: T110S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137
AA Change: T110S

DomainStartEndE-ValueType
Pfam:GCOM2 96 390 7.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165936
AA Change: T110S

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137
AA Change: T110S

DomainStartEndE-ValueType
Pfam:GCOM2 96 379 4.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166112
Predicted Effect probably benign
Transcript: ENSMUST00000166843
AA Change: T110S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
AA Change: T110S

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 4.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169573
AA Change: T110S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
AA Change: T110S

DomainStartEndE-ValueType
Pfam:GCOM2 96 388 6.6e-68 PFAM
Predicted Effect silent
Transcript: ENSMUST00000171977
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,122 (GRCm39) V123D probably damaging Het
4930503E14Rik A T 14: 44,407,756 (GRCm39) N92K probably damaging Het
4930519G04Rik T C 5: 115,017,686 (GRCm39) S166P unknown Het
Abtb3 T A 10: 85,463,079 (GRCm39) Y615N probably damaging Het
Adgrb3 G A 1: 25,586,586 (GRCm39) T369I probably damaging Het
Agbl4 T C 4: 111,383,855 (GRCm39) S237P probably damaging Het
Ahi1 T C 10: 20,839,649 (GRCm39) C187R probably benign Het
Akap9 C T 5: 4,054,933 (GRCm39) T1626M probably damaging Het
Alas1 A T 9: 106,118,833 (GRCm39) probably null Het
Apbb1 G T 7: 105,216,687 (GRCm39) T301N probably benign Het
Arhgap42 A G 9: 9,006,359 (GRCm39) V679A probably benign Het
Atp2a2 T C 5: 122,605,830 (GRCm39) D375G probably benign Het
Best1 A G 19: 9,974,410 (GRCm39) S45P possibly damaging Het
Bpifb4 A C 2: 153,785,924 (GRCm39) T21P probably damaging Het
Cdx2 A T 5: 147,243,482 (GRCm39) M104K probably benign Het
Ces1d A T 8: 93,904,759 (GRCm39) L327Q probably damaging Het
Ces2e A G 8: 105,656,412 (GRCm39) H214R probably benign Het
Chd5 G A 4: 152,457,925 (GRCm39) G1014D probably damaging Het
Cmya5 T A 13: 93,228,346 (GRCm39) K2247N possibly damaging Het
Dip2c T C 13: 9,583,348 (GRCm39) V110A probably damaging Het
Fancd2 T C 6: 113,541,265 (GRCm39) S724P probably benign Het
Galnt1 T A 18: 24,415,214 (GRCm39) V485D probably damaging Het
Garin3 G C 11: 46,298,268 (GRCm39) G524A Het
Gli2 A G 1: 118,765,905 (GRCm39) S749P probably benign Het
H2-M5 A C 17: 37,300,363 (GRCm39) L12V unknown Het
Iqcf6 C A 9: 106,504,656 (GRCm39) Q107K probably benign Het
Itfg1 C T 8: 86,493,630 (GRCm39) C283Y probably damaging Het
Jak3 A C 8: 72,136,936 (GRCm39) K704T probably damaging Het
Kl A T 5: 150,876,461 (GRCm39) T94S probably damaging Het
Krt73 A C 15: 101,702,294 (GRCm39) V523G probably benign Het
Lap3 T C 5: 45,657,848 (GRCm39) F215L probably damaging Het
Lce1c G A 3: 92,587,954 (GRCm39) C127Y unknown Het
Map6 C T 7: 98,917,268 (GRCm39) R14C probably damaging Het
Mcm10 T A 2: 5,006,112 (GRCm39) K410M probably damaging Het
Med23 T A 10: 24,780,254 (GRCm39) N967K probably damaging Het
Mmp8 A T 9: 7,561,388 (GRCm39) T131S probably benign Het
Ms4a14 T C 19: 11,279,395 (GRCm39) I1054M probably benign Het
Mup14 A G 4: 61,259,887 (GRCm39) M1T probably null Het
Nmrk1 A T 19: 18,619,606 (GRCm39) K153M probably damaging Het
Nmrk1 G T 19: 18,619,607 (GRCm39) K153N possibly damaging Het
Or4x12-ps1 T A 2: 89,916,704 (GRCm39) M34L probably benign Het
Or6c70 A T 10: 129,710,551 (GRCm39) I25N probably damaging Het
Pcdh12 T C 18: 38,414,842 (GRCm39) H761R possibly damaging Het
Pde4d C A 13: 109,253,301 (GRCm39) L43I unknown Het
Prrc2a A T 17: 35,381,330 (GRCm39) S46R unknown Het
Rab19 A G 6: 39,365,039 (GRCm39) T100A probably benign Het
Rad51b C T 12: 79,347,359 (GRCm39) R8* probably null Het
Sclt1 A T 3: 41,584,032 (GRCm39) L642Q probably damaging Het
Scyl3 T C 1: 163,776,745 (GRCm39) I392T possibly damaging Het
Sipa1l3 A G 7: 29,066,127 (GRCm39) W1076R probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc5a9 C A 4: 111,741,113 (GRCm39) C511F probably damaging Het
Sspo T C 6: 48,450,647 (GRCm39) L2612P probably damaging Het
Synrg C T 11: 83,881,651 (GRCm39) T329I probably benign Het
Tdrd9 A G 12: 112,034,071 (GRCm39) T1338A probably benign Het
Tenm4 A T 7: 96,486,521 (GRCm39) D996V possibly damaging Het
Ticam2 T A 18: 46,693,584 (GRCm39) I168L probably damaging Het
Tom1l1 T C 11: 90,547,185 (GRCm39) I374M probably benign Het
Trip10 A T 17: 57,557,966 (GRCm39) K51I probably damaging Het
Trpc6 T A 9: 8,656,545 (GRCm39) D735E probably benign Het
Trpm8 T A 1: 88,307,481 (GRCm39) N1050K possibly damaging Het
Tuba8 A T 6: 121,202,980 (GRCm39) D431V probably damaging Het
Ucn2 C T 9: 108,815,322 (GRCm39) T28I possibly damaging Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Vmn2r8 T C 5: 108,945,522 (GRCm39) N695S possibly damaging Het
Xirp2 A C 2: 67,355,904 (GRCm39) N3555T possibly damaging Het
Zfp119a A T 17: 56,173,158 (GRCm39) H228Q probably damaging Het
Zfr T A 15: 12,153,068 (GRCm39) H566Q probably benign Het
Other mutations in Myzap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Myzap APN 9 71,462,953 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- AGTTGGGGTGATCTTCCTTACAT -3'
(R):5'- CGTGGGTGTCCTTCAGCTTATTG -3'

Sequencing Primer
(F):5'- AGCTAGAGGCCTAAGCTTTAAAC -3'
(R):5'- GTCCTTCAGCTTATTGTTTGGATAAC -3'
Posted On 2019-10-07