Incidental Mutation 'IGL01326:Morc2a'
ID 74284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Morc2a
Ensembl Gene ENSMUSG00000034543
Gene Name microrchidia 2A
Synonyms 8430403M08Rik, Zcwcc1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 11
Chromosomal Location 3599191-3640477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3631775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 569 (R569C)
Ref Sequence ENSEMBL: ENSMUSP00000094176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093389] [ENSMUST00000096441]
AlphaFold Q69ZX6
Predicted Effect probably benign
Transcript: ENSMUST00000093389
AA Change: R569C

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: R569C

DomainStartEndE-ValueType
HATPase_c 24 134 5.35e0 SMART
coiled coil region 285 322 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Pfam:zf-CW 495 542 5.1e-18 PFAM
coiled coil region 555 583 N/A INTRINSIC
low complexity region 600 618 N/A INTRINSIC
low complexity region 678 704 N/A INTRINSIC
low complexity region 714 729 N/A INTRINSIC
coiled coil region 742 776 N/A INTRINSIC
coiled coil region 966 1011 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096441
AA Change: R569C

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: R569C

DomainStartEndE-ValueType
HATPase_c 24 134 5.35e0 SMART
coiled coil region 285 322 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Pfam:zf-CW 494 543 1.7e-19 PFAM
coiled coil region 555 583 N/A INTRINSIC
low complexity region 600 618 N/A INTRINSIC
low complexity region 678 704 N/A INTRINSIC
low complexity region 714 729 N/A INTRINSIC
coiled coil region 742 776 N/A INTRINSIC
coiled coil region 966 1011 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131517
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 member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Morc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Morc2a APN 11 3,630,283 (GRCm39) missense probably damaging 0.99
IGL00914:Morc2a APN 11 3,618,844 (GRCm39) splice site probably null
IGL01081:Morc2a APN 11 3,638,149 (GRCm39) missense probably damaging 1.00
IGL01092:Morc2a APN 11 3,634,042 (GRCm39) missense probably benign 0.00
IGL01292:Morc2a APN 11 3,638,175 (GRCm39) missense probably damaging 1.00
IGL01526:Morc2a APN 11 3,600,428 (GRCm39) missense probably benign 0.00
IGL01651:Morc2a APN 11 3,608,727 (GRCm39) critical splice donor site probably null
IGL02860:Morc2a APN 11 3,611,821 (GRCm39) splice site probably benign
IGL03372:Morc2a APN 11 3,631,813 (GRCm39) splice site probably benign
R0136:Morc2a UTSW 11 3,635,907 (GRCm39) splice site probably null
R0267:Morc2a UTSW 11 3,628,567 (GRCm39) missense probably benign 0.03
R0279:Morc2a UTSW 11 3,633,989 (GRCm39) missense probably benign 0.09
R0556:Morc2a UTSW 11 3,631,809 (GRCm39) critical splice donor site probably null
R1084:Morc2a UTSW 11 3,600,454 (GRCm39) splice site probably benign
R1148:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1148:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1341:Morc2a UTSW 11 3,630,216 (GRCm39) missense possibly damaging 0.80
R1460:Morc2a UTSW 11 3,633,794 (GRCm39) missense probably benign 0.01
R1493:Morc2a UTSW 11 3,628,557 (GRCm39) missense probably benign 0.00
R1665:Morc2a UTSW 11 3,625,885 (GRCm39) missense probably benign 0.00
R1668:Morc2a UTSW 11 3,625,885 (GRCm39) missense probably benign 0.00
R1669:Morc2a UTSW 11 3,625,885 (GRCm39) missense probably benign 0.00
R1812:Morc2a UTSW 11 3,635,831 (GRCm39) missense probably damaging 0.98
R2132:Morc2a UTSW 11 3,629,787 (GRCm39) missense possibly damaging 0.89
R2133:Morc2a UTSW 11 3,630,302 (GRCm39) nonsense probably null
R2200:Morc2a UTSW 11 3,633,919 (GRCm39) missense probably benign 0.00
R2698:Morc2a UTSW 11 3,635,400 (GRCm39) missense probably damaging 1.00
R3236:Morc2a UTSW 11 3,633,612 (GRCm39) missense probably benign
R3698:Morc2a UTSW 11 3,629,672 (GRCm39) nonsense probably null
R3743:Morc2a UTSW 11 3,633,700 (GRCm39) missense possibly damaging 0.46
R4119:Morc2a UTSW 11 3,633,868 (GRCm39) missense probably benign 0.00
R4898:Morc2a UTSW 11 3,626,664 (GRCm39) nonsense probably null
R5148:Morc2a UTSW 11 3,639,084 (GRCm39) missense probably damaging 1.00
R5228:Morc2a UTSW 11 3,635,439 (GRCm39) missense probably damaging 0.96
R5395:Morc2a UTSW 11 3,638,232 (GRCm39) missense possibly damaging 0.94
R5808:Morc2a UTSW 11 3,633,781 (GRCm39) missense probably benign 0.00
R5942:Morc2a UTSW 11 3,629,936 (GRCm39) missense probably damaging 1.00
R6634:Morc2a UTSW 11 3,622,376 (GRCm39) critical splice donor site probably null
R7056:Morc2a UTSW 11 3,625,925 (GRCm39) missense probably damaging 1.00
R7537:Morc2a UTSW 11 3,633,566 (GRCm39) nonsense probably null
R8014:Morc2a UTSW 11 3,627,419 (GRCm39) missense probably damaging 1.00
R8143:Morc2a UTSW 11 3,628,537 (GRCm39) missense probably benign 0.00
R8144:Morc2a UTSW 11 3,634,039 (GRCm39) missense probably benign 0.00
R8711:Morc2a UTSW 11 3,630,013 (GRCm39) missense probably damaging 0.98
R8714:Morc2a UTSW 11 3,625,877 (GRCm39) missense probably benign 0.13
R8736:Morc2a UTSW 11 3,631,737 (GRCm39) missense probably damaging 0.98
R8857:Morc2a UTSW 11 3,627,484 (GRCm39) critical splice donor site probably null
R8885:Morc2a UTSW 11 3,628,584 (GRCm39) missense probably damaging 1.00
R9457:Morc2a UTSW 11 3,626,184 (GRCm39) missense probably benign 0.36
R9711:Morc2a UTSW 11 3,600,381 (GRCm39) start codon destroyed probably null 1.00
RF013:Morc2a UTSW 11 3,626,191 (GRCm39) missense probably benign 0.06
Posted On 2013-10-07