Mutagenetix > Incidental Mutations

Incidental Mutation 'R2698:Morc2a'

251347

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

Zcwcc1, 8430403M08Rik

MMRRC Submission

040436-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3649494-3690477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3685400 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 797 (V797A)

Ref Sequence

ENSEMBL: ENSMUSP00000094176 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093389
AA Change: V797A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: V797A

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 damaging
Transcript: ENSMUST00000096441
AA Change: V797A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: V797A

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

0.2821

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,434	S59P	probably damaging	Het
Abcc9	T	C	6: 142,633,136	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,930,966	M262K	probably benign	Het
Ano2	C	A	6: 125,712,346	L145I	probably benign	Het
Ckap5	T	C	2: 91,578,081	W874R	probably damaging	Het
Cox4i1	G	T	8: 120,669,363		probably benign	Het
Cwc27	A	T	13: 104,806,751	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,566,885	S372P	probably damaging	Het
Dpysl4	A	G	7: 139,096,765	N356S	probably damaging	Het
Dusp8	A	G	7: 142,081,964		probably benign	Het
Erc2	G	A	14: 28,271,705	V894M	probably benign	Het
Fbxo28	T	A	1: 182,317,154	I282F	probably benign	Het
Fsd2	T	C	7: 81,545,860	T434A	probably damaging	Het
Gabra4	T	C	5: 71,572,078	H453R	probably benign	Het
Glrx	T	A	13: 75,839,946		probably null	Het
Gm11541	A	T	11: 94,695,615	L102*	probably null	Het
Gm5113	T	A	7: 30,178,725	Y79*	probably null	Het
Gpr87	T	A	3: 59,179,166	N306I	probably damaging	Het
Hydin	T	A	8: 110,609,929	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,413,471		probably benign	Het
Kbtbd8	C	A	6: 95,126,589	Y406*	probably null	Het
Lamb1	G	T	12: 31,298,883	R590L	probably benign	Het
Lin54	A	T	5: 100,480,250	N31K	probably damaging	Het
Lnpk	T	C	2: 74,537,501	E165G	probably damaging	Het
Lrp4	C	T	2: 91,475,212	R276C	probably damaging	Het
Lrrc7	T	A	3: 158,135,391	T1384S	probably benign	Het
Mia2	T	C	12: 59,170,994		probably null	Het
Mrps23	T	C	11: 88,205,367		probably benign	Het
Muc3	A	T	5: 137,146,636	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630		noncoding transcript	Het
Nptx1	A	T	11: 119,544,843		probably benign	Het
Olfr352	T	A	2: 36,870,196	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 164,044,382		probably null	Het
Pdcd6ip	A	T	9: 113,674,507		probably null	Het
Plcg1	A	G	2: 160,761,463	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,102,483	Q230R	probably benign	Het
Psme4	T	A	11: 30,874,282		probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptch1	T	A	13: 63,542,224	N320Y	probably damaging	Het
Qars	G	A	9: 108,508,443	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rhag	T	C	17: 40,836,476	S410P	probably damaging	Het
Rnf213	A	G	11: 119,410,144	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,837,352	E294G	probably benign	Het
Scaf4	T	A	16: 90,244,356	I695F	unknown	Het
Scrn2	T	C	11: 97,032,296		probably benign	Het
Scx	T	A	15: 76,458,163	C188S	probably damaging	Het
Sdk1	G	T	5: 142,212,050	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,400	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,613,567	S459G	probably benign	Het
Smurf1	A	G	5: 144,883,562		probably benign	Het
Taar4	T	C	10: 23,961,430	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,271,463	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,140,361	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,116,438	T102A	probably damaging	Het
Trpa1	A	T	1: 14,905,998	N160K	probably damaging	Het
Ttc22	A	G	4: 106,639,238	Y495C	probably benign	Het
Usp50	A	G	2: 126,778,029	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,459,911	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,995,399	V601D	probably damaging	Het
Wapl	G	A	14: 34,691,777	A199T	probably benign	Het
Zfp658	A	G	7: 43,573,545	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,720,954	T9I	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	intron	probably null
R0267:Morc2a	UTSW	11	3678567	missense	probably benign	0.03
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
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
RF013:Morc2a	UTSW	11	3676191	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCAAGTCATTCATCCTGTGCC -3'
(R):5'- GTCCTAGGATCCTAATAGGCTGC -3'

Sequencing Primer
(F):5'- TGTGCCTTGGCCCCATG -3'
(R):5'- TCCTAATAGGCTGCTAGGAGG -3'

Posted On

2014-12-04