Incidental Mutation 'IGL02886:Myocd'
ID 363015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02886
Quality Score
Status
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65069569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 837 (D837V)
Ref Sequence ENSEMBL: ENSMUSP00000099695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000101042
AA Change: D757V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: D757V

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
low complexity region 119 132 N/A INTRINSIC
SCOP:d1lsha3 140 221 4e-3 SMART
SAP 252 286 1.29e-8 SMART
low complexity region 326 343 N/A INTRINSIC
low complexity region 371 383 N/A INTRINSIC
coiled coil region 396 435 N/A INTRINSIC
low complexity region 557 573 N/A INTRINSIC
low complexity region 615 629 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102635
AA Change: D837V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: D837V

DomainStartEndE-ValueType
RPEL 18 43 4e-1 SMART
RPEL 62 87 9.26e0 SMART
RPEL 106 131 1.15e-6 SMART
low complexity region 147 160 N/A INTRINSIC
low complexity region 247 260 N/A INTRINSIC
SCOP:d1lsha3 268 349 4e-3 SMART
SAP 380 414 1.29e-8 SMART
low complexity region 454 471 N/A INTRINSIC
low complexity region 499 511 N/A INTRINSIC
coiled coil region 524 563 N/A INTRINSIC
low complexity region 695 709 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108695
AA Change: D885V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: D885V

DomainStartEndE-ValueType
RPEL 18 43 4e-1 SMART
RPEL 62 87 9.26e0 SMART
RPEL 106 131 1.15e-6 SMART
low complexity region 147 160 N/A INTRINSIC
low complexity region 247 260 N/A INTRINSIC
SCOP:d1lsha3 268 349 5e-3 SMART
SAP 380 414 1.29e-8 SMART
low complexity region 454 471 N/A INTRINSIC
low complexity region 499 511 N/A INTRINSIC
coiled coil region 524 563 N/A INTRINSIC
low complexity region 685 701 N/A INTRINSIC
low complexity region 743 757 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151483
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 nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,921,863 (GRCm39) C1140S probably damaging Het
Abhd12b T C 12: 70,229,740 (GRCm39) I238T possibly damaging Het
Adgrb3 T C 1: 25,543,991 (GRCm39) probably null Het
Baz2b A T 2: 59,788,087 (GRCm39) probably null Het
Brwd3 T C X: 107,794,454 (GRCm39) Y1410C probably damaging Het
Casp7 T A 19: 56,421,775 (GRCm39) I71N probably damaging Het
Cspg4 A T 9: 56,804,672 (GRCm39) I1828F probably damaging Het
Cul2 T C 18: 3,426,920 (GRCm39) probably benign Het
Efcab3 A G 11: 104,986,700 (GRCm39) D5409G possibly damaging Het
Fam187a A T 11: 102,777,380 (GRCm39) T395S probably benign Het
Fcgr2b A G 1: 170,793,297 (GRCm39) V244A possibly damaging Het
Fubp1 A G 3: 151,926,392 (GRCm39) E333G possibly damaging Het
Ganab G T 19: 8,888,391 (GRCm39) probably benign Het
Hpdl A G 4: 116,677,952 (GRCm39) S170P probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Klhl11 T C 11: 100,363,047 (GRCm39) S170G possibly damaging Het
Lrrc56 A G 7: 140,777,090 (GRCm39) probably benign Het
Lrrd1 T C 5: 3,901,534 (GRCm39) V613A probably benign Het
Myo1e T C 9: 70,276,055 (GRCm39) F757L probably benign Het
Myo5a T A 9: 75,059,169 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nol4l A G 2: 153,371,457 (GRCm39) F76L probably benign Het
Or10ak7 T C 4: 118,792,027 (GRCm39) E6G probably benign Het
Or2b2b T A 13: 21,859,122 (GRCm39) probably benign Het
Or5b98 T A 19: 12,931,882 (GRCm39) S310T probably benign Het
Pck1 G A 2: 172,996,649 (GRCm39) E188K probably benign Het
Pdcd11 T C 19: 47,102,064 (GRCm39) V1083A possibly damaging Het
Primpol G A 8: 47,046,619 (GRCm39) Q226* probably null Het
Rbm15 A C 3: 107,233,611 (GRCm39) V959G probably benign Het
Rorb A G 19: 18,954,943 (GRCm39) probably null Het
Spata9 T C 13: 76,125,853 (GRCm39) L112P probably damaging Het
Stk24 A T 14: 121,529,527 (GRCm39) L375Q probably null Het
Svip A G 7: 51,655,509 (GRCm39) S11P possibly damaging Het
Taf13 T C 3: 108,488,500 (GRCm39) probably benign Het
Tex30 T C 1: 44,127,683 (GRCm39) Y7C probably damaging Het
Tmem68 T C 4: 3,569,361 (GRCm39) probably benign Het
Tnc T C 4: 63,918,344 (GRCm39) E1189G probably damaging Het
Top2b T C 14: 16,365,688 (GRCm38) S4P possibly damaging Het
Trav3-3 C A 14: 53,903,822 (GRCm39) L47I probably benign Het
Ttn G A 2: 76,733,557 (GRCm39) probably benign Het
Uroc1 A G 6: 90,323,811 (GRCm39) probably benign Het
Other mutations in Myocd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Myocd APN 11 65,071,770 (GRCm39) critical splice acceptor site probably null
IGL00481:Myocd APN 11 65,077,980 (GRCm39) missense probably damaging 0.99
IGL00857:Myocd APN 11 65,069,662 (GRCm39) missense possibly damaging 0.93
IGL01012:Myocd APN 11 65,075,451 (GRCm39) missense possibly damaging 0.51
IGL01570:Myocd APN 11 65,091,633 (GRCm39) missense probably benign 0.00
IGL01865:Myocd APN 11 65,091,723 (GRCm39) missense probably benign 0.30
IGL01938:Myocd APN 11 65,077,914 (GRCm39) missense probably damaging 1.00
IGL02324:Myocd APN 11 65,069,484 (GRCm39) missense probably benign 0.01
IGL02598:Myocd APN 11 65,074,296 (GRCm39) missense probably benign 0.31
IGL03008:Myocd APN 11 65,078,392 (GRCm39) missense probably damaging 0.98
IGL03034:Myocd APN 11 65,109,511 (GRCm39) missense probably benign 0.00
harvey UTSW 11 65,069,856 (GRCm39) splice site probably null
irma UTSW 11 65,087,220 (GRCm39) missense probably benign 0.02
myra UTSW 11 65,069,685 (GRCm39) missense probably benign 0.10
Nate UTSW 11 65,123,914 (GRCm39) splice site probably null
R0838_Myocd_053 UTSW 11 65,069,758 (GRCm39) missense probably benign 0.00
R0078:Myocd UTSW 11 65,078,290 (GRCm39) missense possibly damaging 0.96
R0097:Myocd UTSW 11 65,069,840 (GRCm39) missense possibly damaging 0.67
R0097:Myocd UTSW 11 65,069,840 (GRCm39) missense possibly damaging 0.67
R0234:Myocd UTSW 11 65,078,066 (GRCm39) missense probably benign 0.01
R0234:Myocd UTSW 11 65,078,066 (GRCm39) missense probably benign 0.01
R0453:Myocd UTSW 11 65,087,051 (GRCm39) missense probably damaging 1.00
R0523:Myocd UTSW 11 65,071,728 (GRCm39) missense probably damaging 1.00
R0838:Myocd UTSW 11 65,069,758 (GRCm39) missense probably benign 0.00
R0899:Myocd UTSW 11 65,086,018 (GRCm39) missense possibly damaging 0.50
R1167:Myocd UTSW 11 65,087,203 (GRCm39) missense possibly damaging 0.77
R1472:Myocd UTSW 11 65,078,330 (GRCm39) missense probably benign 0.01
R1508:Myocd UTSW 11 65,075,342 (GRCm39) missense probably damaging 0.98
R1620:Myocd UTSW 11 65,087,220 (GRCm39) missense probably benign 0.02
R1630:Myocd UTSW 11 65,087,220 (GRCm39) missense probably benign 0.02
R1731:Myocd UTSW 11 65,091,714 (GRCm39) missense probably benign 0.30
R1740:Myocd UTSW 11 65,109,347 (GRCm39) splice site probably benign
R1769:Myocd UTSW 11 65,069,527 (GRCm39) missense probably benign 0.01
R1823:Myocd UTSW 11 65,069,496 (GRCm39) missense probably benign 0.00
R1968:Myocd UTSW 11 65,091,733 (GRCm39) missense probably damaging 1.00
R1997:Myocd UTSW 11 65,095,147 (GRCm39) nonsense probably null
R2018:Myocd UTSW 11 65,077,854 (GRCm39) missense probably damaging 1.00
R2105:Myocd UTSW 11 65,109,484 (GRCm39) nonsense probably null
R2314:Myocd UTSW 11 65,091,633 (GRCm39) missense probably damaging 1.00
R4330:Myocd UTSW 11 65,114,590 (GRCm39) missense probably benign 0.12
R4331:Myocd UTSW 11 65,114,590 (GRCm39) missense probably benign 0.12
R4603:Myocd UTSW 11 65,078,571 (GRCm39) missense possibly damaging 0.82
R4619:Myocd UTSW 11 65,069,254 (GRCm39) utr 3 prime probably benign
R4631:Myocd UTSW 11 65,069,685 (GRCm39) missense probably benign 0.10
R4865:Myocd UTSW 11 65,069,856 (GRCm39) splice site probably null
R4974:Myocd UTSW 11 65,074,299 (GRCm39) missense possibly damaging 0.78
R4976:Myocd UTSW 11 65,112,876 (GRCm39) missense probably benign 0.00
R5478:Myocd UTSW 11 65,123,914 (GRCm39) splice site probably null
R5499:Myocd UTSW 11 65,069,575 (GRCm39) missense possibly damaging 0.62
R6052:Myocd UTSW 11 65,087,082 (GRCm39) missense probably damaging 1.00
R6356:Myocd UTSW 11 65,109,396 (GRCm39) splice site probably null
R7144:Myocd UTSW 11 65,109,474 (GRCm39) missense probably damaging 1.00
R7261:Myocd UTSW 11 65,078,422 (GRCm39) missense probably damaging 0.98
R7354:Myocd UTSW 11 65,078,319 (GRCm39) missense probably benign 0.00
R7461:Myocd UTSW 11 65,109,429 (GRCm39) missense probably damaging 1.00
R7613:Myocd UTSW 11 65,109,429 (GRCm39) missense probably damaging 1.00
R7718:Myocd UTSW 11 65,109,452 (GRCm39) missense probably damaging 1.00
R7956:Myocd UTSW 11 65,160,494 (GRCm39) missense possibly damaging 0.50
R8345:Myocd UTSW 11 65,077,958 (GRCm39) nonsense probably null
R8975:Myocd UTSW 11 65,069,287 (GRCm39) missense probably damaging 1.00
R9051:Myocd UTSW 11 65,077,795 (GRCm39) missense probably benign
R9400:Myocd UTSW 11 65,086,934 (GRCm39) missense probably benign 0.00
R9469:Myocd UTSW 11 65,087,220 (GRCm39) missense probably benign 0.02
R9565:Myocd UTSW 11 65,078,209 (GRCm39) missense probably damaging 1.00
R9567:Myocd UTSW 11 65,078,410 (GRCm39) missense probably damaging 1.00
R9585:Myocd UTSW 11 65,095,192 (GRCm39) missense probably damaging 1.00
R9710:Myocd UTSW 11 65,087,167 (GRCm39) missense probably damaging 1.00
R9768:Myocd UTSW 11 65,078,217 (GRCm39) missense probably damaging 1.00
X0057:Myocd UTSW 11 65,074,271 (GRCm39) missense possibly damaging 0.87
Z1186:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1187:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1188:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1189:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1190:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1191:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Z1192:Myocd UTSW 11 65,075,418 (GRCm39) missense probably benign
Posted On 2015-12-18