Incidental Mutation 'R4865:Myocd'
ID 374852
Institutional Source Beutler Lab
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
MMRRC Submission 042475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4865 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 65069856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect probably null
Transcript: ENSMUST00000101042
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542

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 null
Transcript: ENSMUST00000102635
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542

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 null
Transcript: ENSMUST00000108695
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,938,157 (GRCm39) V639M probably damaging Het
Adgrf4 A G 17: 42,978,156 (GRCm39) S396P probably damaging Het
Aldh3b2 T A 19: 4,028,469 (GRCm39) I123N probably damaging Het
Aldh5a1 A G 13: 25,095,567 (GRCm39) Y517H probably damaging Het
Aph1c A C 9: 66,735,120 (GRCm39) I77S probably damaging Het
Armc8 A G 9: 99,408,942 (GRCm39) probably null Het
Atp13a5 G A 16: 29,066,912 (GRCm39) P1020L probably damaging Het
BC024139 A T 15: 76,010,266 (GRCm39) M80K possibly damaging Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cenpn A G 8: 117,661,512 (GRCm39) I204V probably damaging Het
Ces4a A T 8: 105,873,790 (GRCm39) M420L probably benign Het
Chdh T A 14: 29,755,681 (GRCm39) D322E probably benign Het
Clcn6 A T 4: 148,104,223 (GRCm39) I223N probably damaging Het
Clec4b1 A G 6: 123,045,428 (GRCm39) K50E possibly damaging Het
Creg1 T A 1: 165,597,432 (GRCm39) C135* probably null Het
Cyp4f13 C T 17: 33,144,678 (GRCm39) R411Q probably damaging Het
Dnah7b T C 1: 46,234,234 (GRCm39) F1426L probably damaging Het
Dock9 A T 14: 121,780,917 (GRCm39) *1917R probably null Het
Dync1h1 T G 12: 110,606,235 (GRCm39) L2435R possibly damaging Het
Eif3l C A 15: 78,965,849 (GRCm39) Y166* probably null Het
Emilin1 T A 5: 31,075,128 (GRCm39) N456K possibly damaging Het
Fam83f C T 15: 80,576,650 (GRCm39) R434C probably damaging Het
Fbxw9 A G 8: 85,786,785 (GRCm39) D10G possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fsip2 T G 2: 82,821,295 (GRCm39) V5676G possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm11596 A G 11: 99,684,064 (GRCm39) probably benign Het
Gm6522 T C 3: 106,183,286 (GRCm39) noncoding transcript Het
Gm6728 A G 6: 136,464,072 (GRCm39) noncoding transcript Het
Gria4 T A 9: 4,464,295 (GRCm39) I556F possibly damaging Het
Grp A T 18: 66,013,041 (GRCm39) D69V probably damaging Het
Gucy1a1 G T 3: 82,026,469 (GRCm39) probably benign Het
Haus5 A T 7: 30,357,980 (GRCm39) L376Q probably damaging Het
Ifne A T 4: 88,797,942 (GRCm39) Y159N probably damaging Het
Ift80 A G 3: 68,898,092 (GRCm39) V81A probably benign Het
Inpp5b T C 4: 124,645,288 (GRCm39) V192A probably benign Het
Kcnh4 A G 11: 100,640,569 (GRCm39) S486P probably damaging Het
Kif5b A G 18: 6,222,912 (GRCm39) probably benign Het
Macf1 T A 4: 123,327,096 (GRCm39) E4800D probably damaging Het
Mblac2 C T 13: 81,860,095 (GRCm39) Q150* probably null Het
Mc1r A T 8: 124,134,255 (GRCm39) T3S probably benign Het
Med17 G A 9: 15,176,668 (GRCm39) Q70* probably null Het
Nphp3 T C 9: 103,909,169 (GRCm39) L793P probably benign Het
Or1ad1 A G 11: 50,876,370 (GRCm39) T281A probably damaging Het
Or2m13 A T 16: 19,226,051 (GRCm39) F238L probably damaging Het
Or4a68 T G 2: 89,270,003 (GRCm39) T207P possibly damaging Het
Or5an10 T C 19: 12,275,944 (GRCm39) D184G probably damaging Het
Or5ap2 T A 2: 85,680,060 (GRCm39) M88K probably damaging Het
Or8c13 T A 9: 38,091,196 (GRCm39) T308S possibly damaging Het
Piezo1 A T 8: 123,213,660 (GRCm39) L1745Q probably damaging Het
Prdm10 T A 9: 31,258,376 (GRCm39) H600Q probably damaging Het
Psapl1 C A 5: 36,362,211 (GRCm39) L268M probably damaging Het
Psg23 T C 7: 18,346,039 (GRCm39) I219V probably benign Het
Rexo5 A T 7: 119,400,553 (GRCm39) R113* probably null Het
Rgs22 A T 15: 36,100,358 (GRCm39) I243N probably damaging Het
Rhbdf1 G A 11: 32,164,517 (GRCm39) T183I probably damaging Het
Rhobtb1 T C 10: 69,106,554 (GRCm39) M373T probably benign Het
Ros1 G T 10: 52,048,966 (GRCm39) A88E probably damaging Het
Sdr16c6 A G 4: 4,058,834 (GRCm39) F251L probably benign Het
Skil A G 3: 31,167,562 (GRCm39) Y398C probably damaging Het
Slc22a3 A T 17: 12,683,419 (GRCm39) M148K probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Sntn A T 14: 13,679,103 (GRCm38) K92N probably benign Het
Spry4 A T 18: 38,722,876 (GRCm39) S296T probably benign Het
St8sia1 A G 6: 142,774,796 (GRCm39) F261S probably damaging Het
Stab2 C T 10: 86,679,364 (GRCm39) probably null Het
Stk24 A T 14: 121,530,866 (GRCm39) C363* probably null Het
Tank G A 2: 61,408,979 (GRCm39) probably benign Het
Tmem67 T C 4: 12,070,262 (GRCm39) N387S probably benign Het
Treml1 A T 17: 48,673,885 (GRCm39) I304L probably benign Het
Trim13 A G 14: 61,842,966 (GRCm39) I328V probably benign Het
Upk2 A G 9: 44,365,382 (GRCm39) V62A probably damaging Het
Urb2 A T 8: 124,756,374 (GRCm39) K694* probably null Het
Vmn2r17 C A 5: 109,574,985 (GRCm39) N97K probably damaging Het
Vmn2r57 A T 7: 41,049,892 (GRCm39) V619D probably damaging Het
Vmn2r92 G A 17: 18,387,634 (GRCm39) R213Q probably benign Het
Wnt6 G A 1: 74,821,788 (GRCm39) C123Y probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T probably damaging Het
Zfp52 C T 17: 21,781,505 (GRCm39) S451L probably damaging 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
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
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'- ACTTCCAGGTGTTCGTCACTG -3'
(R):5'- AGCCAGCTGAGAAGAGTTTG -3'

Sequencing Primer
(F):5'- CACTGTCGTTGGCGTAGTGATC -3'
(R):5'- GTAGAGGTCCCAAGGCATG -3'
Posted On 2016-03-17