Incidental Mutation 'IGL02715:Myzap'
ID 304698
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 # IGL02715
Quality Score
Status
Chromosome 9
Chromosomal Location 71411629-71499642 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 71422397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 392 (E392*)
Ref Sequence ENSEMBL: ENSMUSP00000127028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093823] [ENSMUST00000163998] [ENSMUST00000164962] [ENSMUST00000165936] [ENSMUST00000166843] [ENSMUST00000169573]
AlphaFold Q3UIJ9
Predicted Effect probably null
Transcript: ENSMUST00000093823
AA Change: E420*
SMART Domains Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
AA Change: E420*

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 1.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163708
Predicted Effect probably null
Transcript: ENSMUST00000163998
AA Change: E420*
SMART Domains Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
AA Change: E420*

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 null
Transcript: ENSMUST00000166843
AA Change: E420*
SMART Domains Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
AA Change: E420*

DomainStartEndE-ValueType
Pfam:GCOM2 96 416 4.6e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169573
AA Change: E392*
SMART Domains Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
AA Change: E392*

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,714 (GRCm39) I57V probably damaging Het
Abce1 T A 8: 80,416,990 (GRCm39) E340D probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Aig1 A G 10: 13,744,360 (GRCm39) probably null Het
Atpsckmt A G 15: 31,606,149 (GRCm39) T36A probably benign Het
Brd3 C A 2: 27,344,495 (GRCm39) A412S possibly damaging Het
C3 A G 17: 57,511,158 (GRCm39) probably benign Het
Ccdc127 A G 13: 74,504,893 (GRCm39) E147G probably benign Het
Chrna4 A G 2: 180,671,374 (GRCm39) probably benign Het
Cnn2 T C 10: 79,829,323 (GRCm39) L151P probably damaging Het
Col11a1 G T 3: 113,923,058 (GRCm39) M7I probably benign Het
Cstdc4 T C 16: 36,008,315 (GRCm39) I67T possibly damaging Het
Fastkd1 A G 2: 69,542,469 (GRCm39) probably null Het
Fcho2 A G 13: 98,932,843 (GRCm39) M53T probably damaging Het
Fmnl2 T C 2: 52,962,222 (GRCm39) Y236H possibly damaging Het
G6bos A G 17: 35,284,537 (GRCm39) probably null Het
Gramd1a C T 7: 30,835,279 (GRCm39) G436D probably damaging Het
Hivep2 A G 10: 14,007,131 (GRCm39) Y1243C probably benign Het
Lrit2 A G 14: 36,794,505 (GRCm39) D523G probably benign Het
Lrrc2 A C 9: 110,799,182 (GRCm39) D177A probably damaging Het
Lyst T A 13: 13,848,905 (GRCm39) probably null Het
Mrgpra6 A T 7: 46,838,396 (GRCm39) probably benign Het
Myh6 T C 14: 55,184,365 (GRCm39) probably benign Het
Ndst3 G A 3: 123,340,410 (GRCm39) probably benign Het
Nlrc5 C A 8: 95,201,296 (GRCm39) P130H probably damaging Het
Obscn T C 11: 58,971,137 (GRCm39) T2526A probably benign Het
Or1e26 T A 11: 73,479,947 (GRCm39) I206F probably benign Het
Pcnt C A 10: 76,204,556 (GRCm39) probably benign Het
Pfpl T A 19: 12,407,145 (GRCm39) C465* probably null Het
Pkd1l3 T A 8: 110,353,458 (GRCm39) C680S probably damaging Het
Ppp1r10 G T 17: 36,241,604 (GRCm39) G793V unknown Het
Prss27 A T 17: 24,263,953 (GRCm39) D213V possibly damaging Het
Sh2d5 T C 4: 137,984,018 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,549 (GRCm39) D193G probably benign Het
Sptan1 T C 2: 29,868,588 (GRCm39) V66A probably benign Het
Synpr T C 14: 13,608,618 (GRCm38) S133P probably damaging Het
Tagln3 T C 16: 45,544,588 (GRCm39) N28D probably benign Het
Tfrc A G 16: 32,443,189 (GRCm39) T494A probably benign Het
Tmem38a T C 8: 73,333,512 (GRCm39) I77T possibly damaging Het
Tmem42 C A 9: 122,851,295 (GRCm39) T86N probably damaging Het
Ttc8 T A 12: 98,910,179 (GRCm39) probably benign Het
Tub G A 7: 108,628,517 (GRCm39) V342I probably benign Het
Vmn2r103 A T 17: 20,014,218 (GRCm39) I337F probably damaging Het
Xkr7 A G 2: 152,896,277 (GRCm39) E377G probably damaging Het
Zfp292 C T 4: 34,819,542 (GRCm39) G260D 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
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 2015-04-16