Incidental Mutation 'IGL03008:Myocd'
ID 407660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myocd
Ensembl Gene ENSMUSG00000020542
Gene Name myocardin
Synonyms Srfcp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03008
Quality Score
Status
Chromosome 11
Chromosomal Location 65067387-65160815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65078392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 340 (L340V)
Ref Sequence ENSEMBL: ENSMUSP00000098603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]
AlphaFold Q8VIM5
Predicted Effect probably damaging
Transcript: ENSMUST00000101042
AA Change: L340V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: L340V

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: L468V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: L468V

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: L468V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: L468V

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
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dab1 G T 4: 104,584,777 (GRCm39) V306F probably damaging Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Eya3 A C 4: 132,434,294 (GRCm39) D325A probably damaging Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Mtfr2 T A 10: 20,229,185 (GRCm39) C63S possibly damaging Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
Or8k41 A T 2: 86,313,678 (GRCm39) M136K probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Rnf10 G T 5: 115,389,355 (GRCm39) H271N possibly damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) 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
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
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
Posted On 2016-08-02