Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02860:Morc2a'

362134

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 #

IGL02860

Quality Score

Status

Chromosome

Chromosomal Location

3599191-3640477 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 3611821 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 benign
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 benign
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 benign
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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	T	9: 90,073,915 (GRCm39)	M832L	probably benign	Het
Cars1	A	T	7: 143,140,158 (GRCm39)	D99E	probably damaging	Het
Ccdc112	A	G	18: 46,420,509 (GRCm39)	F414L	probably benign	Het
Chst15	C	T	7: 131,870,831 (GRCm39)	V235I	probably benign	Het
Dysf	G	T	6: 84,167,880 (GRCm39)		probably null	Het
Elavl2	T	C	4: 91,149,190 (GRCm39)	D174G	probably damaging	Het
Gapdhs	T	A	7: 30,429,308 (GRCm39)		probably null	Het
Gnb1l	G	A	16: 18,371,285 (GRCm39)	G259R	probably damaging	Het
Ighv9-2	T	G	12: 114,072,857 (GRCm39)	I39L	possibly damaging	Het
Kntc1	T	A	5: 123,907,936 (GRCm39)	N474K	possibly damaging	Het
Lrrc8c	T	C	5: 105,727,481 (GRCm39)		probably benign	Het
Lyn	C	T	4: 3,745,594 (GRCm39)	A131V	possibly damaging	Het
Mindy2	T	C	9: 70,563,826 (GRCm39)	E168G	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nell1	A	T	7: 50,498,233 (GRCm39)	I597F	probably damaging	Het
Nudt12	T	A	17: 59,317,430 (GRCm39)	R72S	probably benign	Het
Pan2	C	T	10: 128,146,604 (GRCm39)	R414*	probably null	Het
Rb1	T	C	14: 73,443,452 (GRCm39)	R768G	probably damaging	Het
Rps6ka2	A	G	17: 7,550,255 (GRCm39)	E440G	possibly damaging	Het
Serpinb3a	C	T	1: 106,977,183 (GRCm39)		probably benign	Het
Stx8	C	A	11: 67,875,391 (GRCm39)	T72K	probably damaging	Het
Tecrl	A	G	5: 83,502,844 (GRCm39)	F2L	probably benign	Het
Tmem263	C	T	10: 84,950,416 (GRCm39)	T69I	probably damaging	Het
Ttc39b	T	C	4: 83,181,983 (GRCm39)	N49D	probably benign	Het
Ttn	A	G	2: 76,547,359 (GRCm39)	L32229P	probably damaging	Het
Zfp358	T	C	8: 3,546,074 (GRCm39)	F219L	probably damaging	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
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
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
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

2015-12-18