Incidental Mutation 'R8345:Myocd'
ID 645184
Institutional Source Beutler Lab
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
MMRRC Submission 067801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 65077958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 612 (C612*)
Ref Sequence ENSEMBL: ENSMUSP00000104335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect probably null
Transcript: ENSMUST00000101042
AA Change: C484*
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: C484*

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
AA Change: C612*
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: C612*

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
AA Change: C612*
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: C612*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,284 (GRCm39) V260A probably benign Het
Adgrv1 T C 13: 81,251,505 (GRCm39) D6204G probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Aspm T G 1: 139,392,011 (GRCm39) Y787* probably null Het
Atp8b5 A C 4: 43,291,714 (GRCm39) D29A probably benign Het
Bdh2 A T 3: 135,001,013 (GRCm39) I128F probably damaging Het
Bmper T A 9: 23,136,126 (GRCm39) M69K probably benign Het
Ccdc7a C T 8: 129,525,245 (GRCm39) M1415I probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cdc23 G A 18: 34,767,150 (GRCm39) T564I probably benign Het
Cemip T A 7: 83,591,373 (GRCm39) probably null Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Clec2m T A 6: 129,302,593 (GRCm39) N145Y probably damaging Het
Cpsf1 T A 15: 76,485,690 (GRCm39) T435S probably benign Het
Dennd5a T C 7: 109,504,477 (GRCm39) T879A possibly damaging Het
Diaph3 G A 14: 87,066,529 (GRCm39) Q955* probably null Het
Disp2 G A 2: 118,641,284 (GRCm39) V298M unknown Het
Dnah1 C A 14: 30,986,551 (GRCm39) D3671Y probably damaging Het
Dnmt3a T C 12: 3,885,234 (GRCm39) S13P unknown Het
Eci3 G A 13: 35,132,164 (GRCm39) T228I probably damaging Het
Ecm2 T C 13: 49,674,276 (GRCm39) L232P probably benign Het
Ednra G A 8: 78,415,813 (GRCm39) R145C probably damaging Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Fam8a1 T A 13: 46,827,054 (GRCm39) I275K probably damaging Het
Fat3 C A 9: 15,910,570 (GRCm39) V1811L probably benign Het
Fbn2 C T 18: 58,191,503 (GRCm39) C1540Y probably damaging Het
Fcgbpl1 G A 7: 27,854,785 (GRCm39) V1804M probably damaging Het
Ffar3 A G 7: 30,554,789 (GRCm39) L177P probably damaging Het
Fmnl1 A G 11: 103,077,440 (GRCm39) T267A possibly damaging Het
Fsip1 T C 2: 118,070,952 (GRCm39) E246G probably damaging Het
Gemin4 A G 11: 76,101,605 (GRCm39) L1052P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Grm5 A T 7: 87,723,746 (GRCm39) I679F probably damaging Het
Hapln1 A T 13: 89,732,902 (GRCm39) D21V probably benign Het
Jak2 T C 19: 29,262,270 (GRCm39) S364P probably damaging Het
Kansl3 A G 1: 36,387,897 (GRCm39) probably null Het
Kntc1 T C 5: 123,924,993 (GRCm39) L1102S probably benign Het
Mbd3l2 A G 9: 18,355,779 (GRCm39) I35V probably benign Het
Mdfic G T 6: 15,799,653 (GRCm39) C260F probably damaging Het
Mroh2b T C 15: 4,973,808 (GRCm39) S1109P probably benign Het
Or4b13 A T 2: 90,082,561 (GRCm39) M257K possibly damaging Het
Or4c102 A G 2: 88,422,435 (GRCm39) M96V probably benign Het
Or4f17-ps1 T A 2: 111,357,864 (GRCm39) C86* probably null Het
Or52h7 T A 7: 104,213,431 (GRCm39) M1K probably null Het
Or5w22 A T 2: 87,362,691 (GRCm39) T105S probably benign Het
Or8k21 A T 2: 86,145,451 (GRCm39) Y60N probably damaging Het
Pard3 C T 8: 128,050,549 (GRCm39) R204W probably damaging Het
Per1 T A 11: 68,998,382 (GRCm39) N1031K possibly damaging Het
Plekhh3 A G 11: 101,055,105 (GRCm39) S583P unknown Het
Pramel12 C T 4: 143,143,438 (GRCm39) T68I probably benign Het
Prex2 T A 1: 11,270,118 (GRCm39) C1268S possibly damaging Het
Prpf6 T C 2: 181,291,951 (GRCm39) I756T probably benign Het
Pum2 T C 12: 8,759,454 (GRCm39) V98A probably damaging Het
Rad50 A T 11: 53,574,968 (GRCm39) S652T probably benign Het
Rfng G T 11: 120,674,901 (GRCm39) P30T unknown Het
Rfx7 T C 9: 72,524,973 (GRCm39) I721T probably benign Het
Rpf1 G T 3: 146,213,431 (GRCm39) T240K probably benign Het
Ryr3 T C 2: 112,483,270 (GRCm39) N4189S probably benign Het
Samd15 G C 12: 87,248,212 (GRCm39) R299T probably benign Het
Scn3a A G 2: 65,329,335 (GRCm39) M765T possibly damaging Het
Scn9a G A 2: 66,324,966 (GRCm39) S1396L probably damaging Het
Sec24a C T 11: 51,634,605 (GRCm39) R107Q probably benign Het
Sema4b T A 7: 79,870,567 (GRCm39) V505E probably damaging Het
Siglec1 T A 2: 130,920,498 (GRCm39) T769S possibly damaging Het
Sit1 T C 4: 43,483,168 (GRCm39) E69G possibly damaging Het
Slc12a8 C A 16: 33,371,321 (GRCm39) D121E probably benign Het
Slc30a10 A T 1: 185,187,664 (GRCm39) Q135L probably benign Het
Suox A G 10: 128,507,200 (GRCm39) V276A probably benign Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tmed5 A G 5: 108,273,823 (GRCm39) W139R probably damaging Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Vmn1r65 A T 7: 6,011,256 (GRCm39) I326K probably benign Het
Vmn2r43 A G 7: 8,256,601 (GRCm39) S421P possibly damaging Het
Vmn2r57 A T 7: 41,076,968 (GRCm39) N399K possibly damaging Het
Vmn2r90 T A 17: 17,933,127 (GRCm39) L229* probably null Het
Vwf A T 6: 125,656,265 (GRCm39) D2610V Het
Zfp646 C T 7: 127,483,082 (GRCm39) S1753L probably benign Het
Zfy2 C A Y: 2,107,096 (GRCm39) V513F possibly damaging Het
Zranb2 A T 3: 157,251,731 (GRCm39) I317F unknown 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
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
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'- CTATAGGAGCTTACCTGTGCGC -3'
(R):5'- GAGCTGAGAATGCAACTGC -3'

Sequencing Primer
(F):5'- CTGCTGCTGGGTGAAGAGAC -3'
(R):5'- CAGAAGCAGAAGAGCAGCTG -3'
Posted On 2020-09-02