Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Morc2a'

714665

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

Zcwcc1, 8430403M08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3649494-3690477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3676184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 223 (I223V)

Ref Sequence

ENSEMBL: ENSMUSP00000091087 (fasta)

Gene Model

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

AlphaFold

Q69ZX6

Predicted Effect

probably benign
Transcript: ENSMUST00000093389
AA Change: I223V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: I223V

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: I223V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: I223V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	A	G	18: 12,179,246	H181R	probably benign	Het
4930404N11Rik	C	A	10: 81,365,777	V4L	probably benign	Het
4930430A15Rik	A	T	2: 111,170,286	M196K	unknown	Het
4932415D10Rik	A	G	10: 82,286,739	V3479A	probably benign	Het
A930009A15Rik	T	C	10: 115,578,331	L54P	unknown	Het
Ablim3	A	G	18: 61,845,849	S204P	probably benign	Het
Acadl	A	G	1: 66,853,241	V141A	probably benign	Het
Ace3	A	G	11: 105,994,861	D31G	probably benign	Het
Adam11	T	G	11: 102,769,898	V85G	probably benign	Het
Adarb1	A	T	10: 77,322,148	M155K	possibly damaging	Het
Arhgap10	G	A	8: 77,384,786	T376M	probably benign	Het
Bod1l	G	T	5: 41,821,967	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,841,631	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329	I37N	probably damaging	Het
Cfap99	T	G	5: 34,301,397	F45L	probably benign	Het
Chsy1	C	A	7: 66,172,400	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,954,086	V45I	probably benign	Het
Clic3	G	A	2: 25,457,718	V32I	probably benign	Het
Clip2	A	T	5: 134,502,730	D740E	probably benign	Het
Col5a2	C	T	1: 45,386,844	V1062I	probably benign	Het
Col5a2	A	G	1: 45,392,813		probably null	Het
Cyp2j11	C	T	4: 96,307,359	V367I	probably damaging	Het
Ddr1	C	T	17: 35,682,758	A821T	possibly damaging	Het
Dna2	G	A	10: 62,950,793	E107K	probably benign	Het
Eif3d	A	G	15: 77,959,694	V484A	probably benign	Het
Fgfr4	A	G	13: 55,161,127	T354A	probably benign	Het
Fkbp6	T	C	5: 135,349,632	D54G	probably benign	Het
Gm4787	T	A	12: 81,379,246	E46V	probably damaging	Het
Gm47995	A	G	1: 151,198,475	T10A	possibly damaging	Het
Gm498	T	C	7: 143,883,976	V137A	possibly damaging	Het
Gnb1l	T	A	16: 18,540,995	I50N	probably damaging	Het
Gphb5	A	T	12: 75,415,749	V22D	probably damaging	Het
Gstt4	C	T	10: 75,815,125	C221Y	probably benign	Het
Hmces	T	C	6: 87,933,274	V222A	possibly damaging	Het
Kat14	T	A	2: 144,373,782	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,181,869	V89E	probably benign	Het
Kif23	T	A	9: 61,944,225	N63I	probably benign	Het
Lamc2	T	C	1: 153,139,854	M578V	probably benign	Het
Ltbp2	A	T	12: 84,789,153	C1335S	probably benign	Het
Lyst	A	G	13: 13,687,745	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,384,674	H47L	probably benign	Het
Micalcl	A	G	7: 112,411,458	K618R	probably damaging	Het
Mllt6	T	C	11: 97,665,760	I92T	probably benign	Het
Msh3	A	T	13: 92,345,086	I306N	probably benign	Het
Myo3b	T	A	2: 70,095,209	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,813,984	V700E	probably damaging	Het
Oit3	T	A	10: 59,441,683	M1L	unknown	Het
Olfr1048	A	T	2: 86,236,472	I114K	probably damaging	Het
Olfr1231	A	T	2: 89,302,731	I287N	probably damaging	Het
Olfr606	T	A	7: 103,451,411	F25I	probably benign	Het
Peg3	T	G	7: 6,707,999	D1408A	probably damaging	Het
Plaa	A	C	4: 94,586,883	S201R	possibly damaging	Het
Psmd5	A	G	2: 34,854,326	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,334,554	I1701V	probably damaging	Het
Rnf32	G	A	5: 29,206,186	A157T	probably damaging	Het
Rrad	T	A	8: 104,629,727		probably null	Het
Samm50	T	A	15: 84,207,841	L339Q	probably damaging	Het
Scin	T	C	12: 40,104,958	E212G	possibly damaging	Het
Scrib	T	C	15: 76,067,299	D146G	probably damaging	Het
Slc19a1	G	A	10: 77,049,771	D502N	probably benign	Het
Slc4a4	T	C	5: 89,214,573	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,806,260	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,681,765	A590V	probably damaging	Het
Slfn8	G	T	11: 83,017,706	H4N	probably benign	Het
Smad9	T	A	3: 54,789,335	F274I	possibly damaging	Het
Snx4	A	G	16: 33,286,010	E271G	probably benign	Het
Thap4	G	A	1: 93,750,306	R253*	probably null	Het
Tmem65	T	A	15: 58,790,179	I144F		Het
Tnrc6a	G	A	7: 123,179,735	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,527,763		probably benign	Het
Trpm2	T	C	10: 77,911,392	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,826,668	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,024,523	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,456,012	E273V	probably damaging	Het
Vps52	A	G	17: 33,962,182	D466G	probably damaging	Het
Xirp2	T	C	2: 67,515,632	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,434,750	S1003F	unknown	Het
Zyg11a	A	T	4: 108,217,905	H6Q	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
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
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
R8711:Morc2a	UTSW	11	3680013	missense	probably damaging	0.98
R8714:Morc2a	UTSW	11	3675877	missense	probably benign	0.13
R8736:Morc2a	UTSW	11	3681737	missense	probably damaging	0.98
R8857:Morc2a	UTSW	11	3677484	critical splice donor site	probably null
R8885:Morc2a	UTSW	11	3678584	missense	probably damaging	1.00
R9711:Morc2a	UTSW	11	3650381	start codon destroyed	probably null	1.00
RF013:Morc2a	UTSW	11	3676191	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGTAGGCTTTGGTCCTGCAG -3'
(R):5'- CTTGCCTGAGGAAATCACTGTC -3'

Sequencing Primer
(F):5'- GTCCTGCAGCCCAGAGAATC -3'
(R):5'- AATATTAAGCAGGCAGGAAATCTC -3'

Posted On

2022-06-15