Incidental Mutation 'R4470:Myzap'
ID 329379
Institutional Source Beutler Lab
Gene Symbol Myzap
Ensembl Gene ENSMUSG00000041361
Gene Name myocardial zonula adherens protein
Synonyms Gcom1, Myozap, Grinl1a7
MMRRC Submission 041727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R4470 (G1)
Quality Score 176
Status Validated
Chromosome 9
Chromosomal Location 71411629-71499642 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 71499563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093823] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166112] [ENSMUST00000166843] [ENSMUST00000169573]
AlphaFold Q3UIJ9
Predicted Effect probably benign
Transcript: ENSMUST00000093823
SMART Domains Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 1.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163708
Predicted Effect probably benign
Transcript: ENSMUST00000163998
SMART Domains Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137

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
SMART Domains Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 390 7.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165936
SMART Domains Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 379 4.2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166112
Predicted Effect probably benign
Transcript: ENSMUST00000166843
SMART Domains Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 4.6e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169573
SMART Domains Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361

DomainStartEndE-ValueType
Pfam:GCOM2 96 388 6.6e-68 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or4d6 T C 19: 12,086,547 (GRCm39) probably null Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tbx4 A G 11: 85,802,948 (GRCm39) I275V probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCCAGGAAACTTGAGCCAAG -3'
(R):5'- ATGCTGCTTGACTAGTCTGGC -3'

Sequencing Primer
(F):5'- CTTGAGCCAAGACTGAGGTATC -3'
(R):5'- TGACTAGTCTGGCAGAATCCTAGC -3'
Posted On 2015-07-21