Incidental Mutation 'R1823:Myocd'
ID 206587
Institutional Source Beutler Lab
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
MMRRC Submission 039851-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1823 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65069496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 909 (M909I)
Ref Sequence ENSEMBL: ENSMUSP00000104335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect probably benign
Transcript: ENSMUST00000101042
AA Change: M781I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: M781I

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 benign
Transcript: ENSMUST00000102635
AA Change: M861I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: M861I

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 benign
Transcript: ENSMUST00000108695
AA Change: M909I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: M909I

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 0.0861 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
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
Adcy1 G A 11: 7,111,312 (GRCm39) V868I probably benign Het
Ahnak G T 19: 8,982,269 (GRCm39) M1184I probably damaging Het
Akap11 T C 14: 78,748,928 (GRCm39) E1153G probably damaging Het
Amy1 T C 3: 113,356,376 (GRCm39) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm39) L129P probably damaging Het
Aox1 A T 1: 58,351,518 (GRCm39) T702S probably benign Het
Apobec1 G T 6: 122,555,845 (GRCm39) T204K possibly damaging Het
Arhgef19 A G 4: 140,976,457 (GRCm39) R433G probably benign Het
Atf6b T A 17: 34,867,618 (GRCm39) H110Q possibly damaging Het
Btnl4 C T 17: 34,694,826 (GRCm39) probably null Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cbs G A 17: 31,843,245 (GRCm39) H229Y probably damaging Het
Cct8 G A 16: 87,287,442 (GRCm39) R111* probably null Het
Cdc42bpb C T 12: 111,293,993 (GRCm39) A250T probably damaging Het
Chrd A G 16: 20,560,097 (GRCm39) probably benign Het
Ckap2l A G 2: 129,117,499 (GRCm39) F559L probably damaging Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
D630003M21Rik T C 2: 158,059,477 (GRCm39) Y141C probably damaging Het
Dbf4 T C 5: 8,447,539 (GRCm39) N557S probably benign Het
Dct T G 14: 118,273,935 (GRCm39) N324T probably benign Het
Dip2a A T 10: 76,114,336 (GRCm39) L999* probably null Het
Dock10 T A 1: 80,520,814 (GRCm39) probably null Het
Dync2li1 A T 17: 84,957,225 (GRCm39) D330V probably damaging Het
Eif4g3 T A 4: 137,907,802 (GRCm39) D1267E probably benign Het
Enc1 A G 13: 97,382,486 (GRCm39) E332G possibly damaging Het
Fat2 C T 11: 55,147,606 (GRCm39) V3879I probably benign Het
Fh1 A T 1: 175,444,114 (GRCm39) I117K probably damaging Het
Fkbp15 A G 4: 62,255,328 (GRCm39) L227P probably damaging Het
Fpr1 T A 17: 18,097,315 (GRCm39) M225L probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Grm7 A G 6: 111,184,730 (GRCm39) T354A probably benign Het
Ift27 T A 15: 78,057,978 (GRCm39) I9F possibly damaging Het
Igf1r A G 7: 67,844,729 (GRCm39) D834G possibly damaging Het
Igsf9b T A 9: 27,243,028 (GRCm39) L738Q probably damaging Het
Itgam A T 7: 127,663,904 (GRCm39) T44S probably benign Het
Ivd T A 2: 118,692,515 (GRCm39) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm39) S1181P probably damaging Het
Kctd18 A G 1: 57,995,524 (GRCm39) V251A probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo18a T C 11: 77,715,923 (GRCm39) probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Nkpd1 G A 7: 19,257,177 (GRCm39) V319M probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or1af1 T C 2: 37,110,344 (GRCm39) V281A probably damaging Het
Or1p1c C T 11: 74,161,043 (GRCm39) A276V probably damaging Het
Or2q1 G T 6: 42,795,202 (GRCm39) A266S possibly damaging Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4c111 A G 2: 88,843,722 (GRCm39) S229P probably benign Het
Or5b101 C A 19: 13,005,181 (GRCm39) V171L probably benign Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pcdhb9 A G 18: 37,535,871 (GRCm39) T622A probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 G T 10: 3,853,658 (GRCm39) probably null Het
Plekhh2 A G 17: 84,882,617 (GRCm39) Y708C probably damaging Het
Pnp T C 14: 51,187,786 (GRCm39) F107L probably damaging Het
Postn T A 3: 54,292,708 (GRCm39) probably null Het
Prcp A T 7: 92,577,883 (GRCm39) D349V probably damaging Het
Prl3a1 A T 13: 27,454,177 (GRCm39) I52F probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,241 (GRCm39) I248N probably damaging Het
Ror2 T G 13: 53,264,341 (GRCm39) E917A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sema6d A G 2: 124,501,476 (GRCm39) probably null Het
Shisal1 T C 15: 84,290,669 (GRCm39) T213A probably benign Het
Slc4a2 C T 5: 24,632,618 (GRCm39) A12V probably damaging Het
Slco6b1 T G 1: 96,888,901 (GRCm39) noncoding transcript Het
Slf2 A T 19: 44,923,687 (GRCm39) H167L possibly damaging Het
Snx9 G T 17: 5,970,946 (GRCm39) G429V probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Spta1 T A 1: 174,074,115 (GRCm39) D2351E probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Tatdn1 C T 15: 58,788,005 (GRCm39) G171E probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tpm3-rs7 T C 14: 113,552,595 (GRCm39) L163P possibly damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Ucp1 C T 8: 84,020,661 (GRCm39) T157I probably damaging Het
Uspl1 T A 5: 149,151,224 (GRCm39) L794Q probably benign Het
Vmn1r5 T A 6: 56,962,580 (GRCm39) V85E probably damaging Het
Vmn1r58 A G 7: 5,413,405 (GRCm39) I275T possibly damaging Het
Vmn2r79 A G 7: 86,687,080 (GRCm39) I820M probably damaging Het
Wscd1 C A 11: 71,651,044 (GRCm39) P124T probably benign Het
Zfp780b A T 7: 27,662,525 (GRCm39) C677S possibly 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
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'- TAGCTCTTGTACCTCGGGTG -3'
(R):5'- TGACGAACACCTGGAAGTC -3'

Sequencing Primer
(F):5'- CACTGCTGTAAGTGGAGATCC -3'
(R):5'- GACGAACACCTGGAAGTCTTATTG -3'
Posted On 2014-06-23