Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00914:Morc2a'

28511

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 #

IGL00914

Quality Score

Status

Chromosome

Chromosomal Location

3599191-3640477 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 3618844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093389] [ENSMUST00000096441] [ENSMUST00000140242]

AlphaFold

Q69ZX6

Predicted Effect

probably null
Transcript: ENSMUST00000093389

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000096441

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000140242

SMART Domains

Protein: ENSMUSP00000120211
Gene: ENSMUSG00000034543

Domain	Start	End	E-Value	Type
Pfam:HATPase_c	24	103	1.2e-7	PFAM
Pfam:HATPase_c_3	26	103	1e-19	PFAM

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	G	10: 20,860,198 (GRCm39)		probably null	Het
Aipl1	T	C	11: 71,922,373 (GRCm39)	D112G	probably damaging	Het
Casz1	G	A	4: 149,013,828 (GRCm39)	E131K	probably damaging	Het
Chrna4	A	G	2: 180,670,824 (GRCm39)	Y311H	probably damaging	Het
Cyp2d34	G	T	15: 82,504,915 (GRCm39)	N48K	probably damaging	Het
Dnajc13	T	A	9: 104,090,081 (GRCm39)	K696I	possibly damaging	Het
Dync2i1	A	G	12: 116,196,223 (GRCm39)	V508A	probably damaging	Het
Fbxo30	T	C	10: 11,166,283 (GRCm39)	V335A	probably benign	Het
Itga5	A	G	15: 103,258,799 (GRCm39)		probably null	Het
Nek8	T	C	11: 78,063,901 (GRCm39)	I35V	possibly damaging	Het
Or5b101	A	G	19: 13,004,955 (GRCm39)	V246A	probably damaging	Het
Or8c15	A	G	9: 38,121,095 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,505,151 (GRCm39)		probably benign	Het
Sec23b	T	G	2: 144,408,784 (GRCm39)	S156R	probably damaging	Het
Shc3	T	A	13: 51,634,263 (GRCm39)		probably benign	Het
Sntg2	A	G	12: 30,307,956 (GRCm39)		probably benign	Het
Srms	T	A	2: 180,849,565 (GRCm39)	M280L	probably benign	Het

Other mutations in Morc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Morc2a	APN	11	3,630,283 (GRCm39)	missense	probably damaging	0.99
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
IGL01326:Morc2a	APN	11	3,631,775 (GRCm39)	missense	probably benign	0.03
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

2013-04-17