Incidental Mutation 'R0523:Myocd'
ID 48728
Institutional Source Beutler Lab
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
MMRRC Submission 038716-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0523 (G1)
Quality Score 216
Status Not validated
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65071728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 740 (V740A)
Ref Sequence ENSEMBL: ENSMUSP00000099695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect probably benign
Transcript: ENSMUST00000101042
AA Change: V660A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: V660A

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: V740A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: V740A

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 probably damaging
Transcript: ENSMUST00000108695
AA Change: V788A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: V788A

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,289 (GRCm39) D807G possibly damaging Het
Actl9 T A 17: 33,652,323 (GRCm39) W128R probably damaging Het
Aggf1 T C 13: 95,492,924 (GRCm39) I562V probably damaging Het
Ano3 T A 2: 110,715,200 (GRCm39) E79D probably benign Het
Apobec1 T A 6: 122,558,504 (GRCm39) I84F probably damaging Het
Atp6v1b2 T C 8: 69,562,637 (GRCm39) F458L possibly damaging Het
Bco2 A T 9: 50,445,926 (GRCm39) V490E probably damaging Het
Catsperg1 G A 7: 28,884,615 (GRCm39) probably benign Het
Cdc37 T C 9: 21,054,292 (GRCm39) K111R probably damaging Het
Cfap54 T C 10: 92,744,745 (GRCm39) probably benign Het
Cfap91 G A 16: 38,148,736 (GRCm39) P231S probably damaging Het
Cplane1 T A 15: 8,223,870 (GRCm39) Y878N probably damaging Het
Cpox T A 16: 58,495,608 (GRCm39) C308* probably null Het
Cracdl A T 1: 37,683,710 (GRCm39) M1K probably null Het
Ctnna3 T G 10: 64,511,688 (GRCm39) M626R probably damaging Het
Cyp2c68 T C 19: 39,727,873 (GRCm39) E93G probably benign Het
Cyp2s1 G A 7: 25,505,475 (GRCm39) R330W probably damaging Het
Diaph1 C T 18: 37,989,553 (GRCm39) V860I possibly damaging Het
Dicer1 A G 12: 104,668,750 (GRCm39) S1311P probably damaging Het
Dpyd G A 3: 118,692,852 (GRCm39) R332K probably benign Het
E130308A19Rik G A 4: 59,719,716 (GRCm39) R416H probably damaging Het
Eef1d T C 15: 75,775,005 (GRCm39) D218G probably benign Het
Eif2ak1 T C 5: 143,818,984 (GRCm39) V215A probably damaging Het
Eif2ak4 T C 2: 118,272,577 (GRCm39) probably null Het
Fcrl5 T C 3: 87,365,099 (GRCm39) S583P possibly damaging Het
Garin5b A G 7: 4,762,392 (GRCm39) S246P possibly damaging Het
Grid2ip C A 5: 143,358,798 (GRCm39) Q29K possibly damaging Het
Htr1f A T 16: 64,746,262 (GRCm39) N343K probably damaging Het
Hvcn1 T C 5: 122,354,428 (GRCm39) probably null Het
Igf2r T C 17: 12,910,951 (GRCm39) I1956V probably benign Het
Impdh2 A T 9: 108,439,018 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,019 (GRCm39) T96I possibly damaging Het
Lactb C G 9: 66,877,974 (GRCm39) G285A probably benign Het
Lrrc43 T C 5: 123,639,305 (GRCm39) S445P probably damaging Het
Mapk12 T G 15: 89,019,848 (GRCm39) M120L probably benign Het
Mroh8 C G 2: 157,065,956 (GRCm39) A669P probably damaging Het
Mrpl38 A C 11: 116,022,844 (GRCm39) H373Q probably benign Het
Naprt A G 15: 75,764,314 (GRCm39) F300S probably damaging Het
Ncam2 T C 16: 81,258,531 (GRCm39) I271T probably damaging Het
Nek4 A G 14: 30,701,995 (GRCm39) T582A probably benign Het
Notch2 C T 3: 97,978,286 (GRCm39) T89I probably benign Het
Notch2 G A 3: 98,018,914 (GRCm39) R692H probably benign Het
Nt5c3 A T 6: 56,860,666 (GRCm39) N296K probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Oas3 T C 5: 120,904,209 (GRCm39) Q555R unknown Het
Or2ag17 A G 7: 106,389,533 (GRCm39) V225A probably damaging Het
Or5p69 A T 7: 107,967,438 (GRCm39) H247L probably damaging Het
Or9g19 T A 2: 85,600,273 (GRCm39) S43T probably benign Het
P3h1 C A 4: 119,098,727 (GRCm39) Q410K probably benign Het
Pax3 A G 1: 78,172,078 (GRCm39) V44A possibly damaging Het
Pde1c T A 6: 56,151,926 (GRCm39) L252F probably damaging Het
Pdzd7 T A 19: 45,024,529 (GRCm39) T497S probably benign Het
Piezo2 T C 18: 63,155,552 (GRCm39) T253A probably damaging Het
Pipox T C 11: 77,782,965 (GRCm39) E79G probably damaging Het
Pole G T 5: 110,451,459 (GRCm39) M829I probably damaging Het
Ppp1r12c A T 7: 4,492,771 (GRCm39) L156Q probably damaging Het
Psme2b T G 11: 48,836,609 (GRCm39) T113P probably damaging Het
Ptprq A G 10: 107,416,081 (GRCm39) I1739T possibly damaging Het
Qser1 T C 2: 104,620,021 (GRCm39) T174A probably damaging Het
Rcor3 T G 1: 191,814,736 (GRCm39) D81A probably damaging Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Rnf11 T C 4: 109,314,119 (GRCm39) D90G probably benign Het
Sh3tc1 GCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCC 5: 35,881,410 (GRCm39) probably benign Het
Smad2 T A 18: 76,395,623 (GRCm39) S21T probably benign Het
Smc4 A G 3: 68,933,221 (GRCm39) D639G probably damaging Het
Smtn A T 11: 3,474,664 (GRCm39) S716T possibly damaging Het
Smug1 G T 15: 103,064,136 (GRCm39) Q262K probably benign Het
Sspo G T 6: 48,428,794 (GRCm39) G403V probably benign Het
Tas2r131 A G 6: 132,934,414 (GRCm39) F132L possibly damaging Het
Tgm3 T C 2: 129,886,582 (GRCm39) probably null Het
Tigd2 C T 6: 59,187,358 (GRCm39) T75M probably benign Het
Tnfrsf13b T C 11: 61,038,413 (GRCm39) V232A probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim47 A G 11: 115,998,716 (GRCm39) L301S probably damaging Het
Trim75 G A 8: 65,436,442 (GRCm39) H3Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tsbp1 G T 17: 34,664,473 (GRCm39) probably null Het
Ttc29 G C 8: 79,003,466 (GRCm39) L227F probably benign Het
Ttc39d G A 17: 80,523,886 (GRCm39) D182N possibly damaging Het
Ttll10 T A 4: 156,129,818 (GRCm39) R164* probably null Het
Ufsp2 T A 8: 46,449,780 (GRCm39) D447E probably benign Het
Ugt2b37 T A 5: 87,399,691 (GRCm39) L272F possibly damaging Het
Vps13b T C 15: 35,472,196 (GRCm39) V833A probably benign Het
Zbbx T C 3: 74,989,165 (GRCm39) T308A probably benign Het
Zfp933 G A 4: 147,910,919 (GRCm39) Q226* probably null 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
IGL02886:Myocd APN 11 65,069,569 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGGCAAGGAAGCATCCACTGTG -3'
(R):5'- ACTCTGCTGTGTTGAATCCTTAGGC -3'

Sequencing Primer
(F):5'- GAAGCATCCACTGTGTTTCTC -3'
(R):5'- GCAAGCATAATTCTGTTTCTAGGGC -3'
Posted On 2013-06-12