Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Morc2a'

35011

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

Zcwcc1, 8430403M08Rik

MMRRC Submission

038493-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0267 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

3649494-3690477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3678567 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 340 (I340T)

Ref Sequence

ENSEMBL: ENSMUSP00000094176 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093389
AA Change: I340T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: I340T

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
AA Change: I340T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: I340T

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

noncoding transcript
Transcript: ENSMUST00000126035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131517

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Morc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Morc2a	APN	11	3680283	missense	probably damaging	0.99
IGL00914:Morc2a	APN	11	3668844	splice site	probably null
IGL01081:Morc2a	APN	11	3688149	missense	probably damaging	1.00
IGL01092:Morc2a	APN	11	3684042	missense	probably benign	0.00
IGL01292:Morc2a	APN	11	3688175	missense	probably damaging	1.00
IGL01326:Morc2a	APN	11	3681775	missense	probably benign	0.03
IGL01526:Morc2a	APN	11	3650428	missense	probably benign	0.00
IGL01651:Morc2a	APN	11	3658727	critical splice donor site	probably null
IGL02860:Morc2a	APN	11	3661821	splice site	probably benign
IGL03372:Morc2a	APN	11	3681813	splice site	probably benign
R0136:Morc2a	UTSW	11	3685907	splice site	probably null
R0279:Morc2a	UTSW	11	3683989	missense	probably benign	0.09
R0556:Morc2a	UTSW	11	3681809	critical splice donor site	probably null
R1084:Morc2a	UTSW	11	3650454	splice site	probably benign
R1148:Morc2a	UTSW	11	3678557	missense	probably benign	0.00
R1148:Morc2a	UTSW	11	3678557	missense	probably benign	0.00
R1341:Morc2a	UTSW	11	3680216	missense	possibly damaging	0.80
R1460:Morc2a	UTSW	11	3683794	missense	probably benign	0.01
R1493:Morc2a	UTSW	11	3678557	missense	probably benign	0.00
R1665:Morc2a	UTSW	11	3675885	missense	probably benign	0.00
R1668:Morc2a	UTSW	11	3675885	missense	probably benign	0.00
R1669:Morc2a	UTSW	11	3675885	missense	probably benign	0.00
R1812:Morc2a	UTSW	11	3685831	missense	probably damaging	0.98
R2132:Morc2a	UTSW	11	3679787	missense	possibly damaging	0.89
R2133:Morc2a	UTSW	11	3680302	nonsense	probably null
R2200:Morc2a	UTSW	11	3683919	missense	probably benign	0.00
R2698:Morc2a	UTSW	11	3685400	missense	probably damaging	1.00
R3236:Morc2a	UTSW	11	3683612	missense	probably benign
R3698:Morc2a	UTSW	11	3679672	nonsense	probably null
R3743:Morc2a	UTSW	11	3683700	missense	possibly damaging	0.46
R4119:Morc2a	UTSW	11	3683868	missense	probably benign	0.00
R4898:Morc2a	UTSW	11	3676664	nonsense	probably null
R5148:Morc2a	UTSW	11	3689084	missense	probably damaging	1.00
R5228:Morc2a	UTSW	11	3685439	missense	probably damaging	0.96
R5395:Morc2a	UTSW	11	3688232	missense	possibly damaging	0.94
R5808:Morc2a	UTSW	11	3683781	missense	probably benign	0.00
R5942:Morc2a	UTSW	11	3679936	missense	probably damaging	1.00
R6634:Morc2a	UTSW	11	3672376	critical splice donor site	probably null
R7056:Morc2a	UTSW	11	3675925	missense	probably damaging	1.00
R7537:Morc2a	UTSW	11	3683566	nonsense	probably null
R8014:Morc2a	UTSW	11	3677419	missense	probably damaging	1.00
R8143:Morc2a	UTSW	11	3678537	missense	probably benign	0.00
R8144:Morc2a	UTSW	11	3684039	missense	probably benign	0.00
RF013:Morc2a	UTSW	11	3676191	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTGCTCTGTGGATCAAGGAAGGAC -3'
(R):5'- TGCAGATCGGCAGAAGCACTTGAC -3'

Sequencing Primer
(F):5'- TGGAATCCAGTGTCCTGAAC -3'
(R):5'- GAAGCACTTGACCACATCGG -3'

Posted On

2013-05-09