Incidental Mutation 'R4603:Myocd'
ID 345804
Institutional Source Beutler Lab
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4603 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65078571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 408 (D408G)
Ref Sequence ENSEMBL: ENSMUSP00000104335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect possibly damaging
Transcript: ENSMUST00000101042
AA Change: D280G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: D280G

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 possibly damaging
Transcript: ENSMUST00000102635
AA Change: D408G

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: D408G

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: D408G

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: D408G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,029,019 (GRCm39) V60A probably damaging Het
AAdacl4fm3 A G 4: 144,429,798 (GRCm39) V397A probably benign Het
Afg3l1 A G 8: 124,228,674 (GRCm39) T747A probably benign Het
Aldh4a1 T C 4: 139,370,740 (GRCm39) S408P probably damaging Het
Ank2 T C 3: 126,825,665 (GRCm39) T445A probably benign Het
Antxrl A G 14: 33,797,792 (GRCm39) E589G possibly damaging Het
Arhgef12 C T 9: 42,921,489 (GRCm39) G329R probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bpnt2 T C 4: 4,767,878 (GRCm39) I299M probably damaging Het
Brca2 T A 5: 150,459,630 (GRCm39) C302S possibly damaging Het
Ccdc169 T A 3: 55,058,226 (GRCm39) M4K probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cdc73 T C 1: 143,553,595 (GRCm39) probably null Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Cse1l T C 2: 166,786,452 (GRCm39) V604A probably benign Het
Cxcr1 G C 1: 74,231,896 (GRCm39) T42S probably benign Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Erp27 A G 6: 136,896,947 (GRCm39) V85A probably damaging Het
Fam3d T A 14: 8,358,429 (GRCm38) S57C probably damaging Het
Fgf8 T G 19: 45,726,592 (GRCm39) I137L probably benign Het
Fgfrl1 T A 5: 108,851,401 (GRCm39) V106D probably damaging Het
Gaa T C 11: 119,169,784 (GRCm39) W613R probably damaging Het
Gabarap A G 11: 69,885,287 (GRCm39) N66S probably benign Het
Gp1bb A T 16: 18,439,893 (GRCm39) L67Q probably damaging Het
Gpn1 T C 5: 31,654,696 (GRCm39) probably null Het
Gstt1 T C 10: 75,629,969 (GRCm39) Y48C probably damaging Het
Iqcg C T 16: 32,861,134 (GRCm39) R194K probably null Het
Iqcg C G 16: 32,861,133 (GRCm39) probably null Het
Kcnj3 C T 2: 55,336,991 (GRCm39) R286* probably null Het
Klhl38 T A 15: 58,186,616 (GRCm39) I38F possibly damaging Het
Kmo C A 1: 175,479,208 (GRCm39) P248Q probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mprip T C 11: 59,622,399 (GRCm39) V162A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myt1l A G 12: 29,892,539 (GRCm39) T59A probably benign Het
Ndufb7 A G 8: 84,293,494 (GRCm39) E16G probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nploc4 C T 11: 120,276,613 (GRCm39) V478I probably benign Het
Nrap A G 19: 56,323,456 (GRCm39) probably null Het
Or5e1 A T 7: 108,354,834 (GRCm39) Y257F probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pdss2 T C 10: 43,248,197 (GRCm39) S234P probably damaging Het
Pias2 T A 18: 77,217,803 (GRCm39) V335E probably damaging Het
Ppip5k2 C A 1: 97,682,861 (GRCm39) K187N probably damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ppp4r1 T G 17: 66,120,459 (GRCm39) C181G probably damaging Het
Pramel27 T A 4: 143,579,451 (GRCm39) H345Q probably benign Het
Prkdc G A 16: 15,628,688 (GRCm39) E3478K probably damaging Het
Prpf4b T C 13: 35,072,147 (GRCm39) probably benign Het
Psme3 T A 11: 101,208,435 (GRCm39) probably null Het
Ptpre C A 7: 135,269,372 (GRCm39) Y284* probably null Het
Scnn1a A G 6: 125,299,123 (GRCm39) I94V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Shc2 T C 10: 79,459,690 (GRCm39) D418G probably benign Het
Sidt1 A T 16: 44,075,389 (GRCm39) D661E probably damaging Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Sorcs1 A G 19: 50,301,402 (GRCm39) probably null Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Tmem270 C A 5: 134,930,482 (GRCm39) E260* probably null Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Trim46 A G 3: 89,150,958 (GRCm39) F188S probably benign Het
Trim7 T A 11: 48,728,355 (GRCm39) M1K probably null Het
Txnip A G 3: 96,465,604 (GRCm39) E18G probably benign Het
Usp34 A G 11: 23,414,633 (GRCm39) N2859D probably damaging Het
Vmn2r94 T A 17: 18,477,647 (GRCm39) I255F probably benign Het
Xkr5 T A 8: 18,983,733 (GRCm39) N603I possibly damaging Het
Zfp512 C T 5: 31,637,570 (GRCm39) A497V probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S 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
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'- TGCAGCGGACAAGTCAGATG -3'
(R):5'- AAAGCTCAGCTGGCTTGTTC -3'

Sequencing Primer
(F):5'- CGGACAAGTCAGATGAGGCG -3'
(R):5'- TTCCTGTAGGTGTCAGAG -3'
Posted On 2015-09-25