Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Morc2a'

603350

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

Zcwcc1, 8430403M08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3649494-3690477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3676191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 225 (M225K)

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: M225K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: M225K

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: M225K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: M225K

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
R9457:Morc2a	UTSW	11	3676184	missense	probably benign	0.36
R9711:Morc2a	UTSW	11	3650381	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGTTCATGAAGATTCCTGGG -3'
(R):5'- GCAGGCAGGAAATCTCAGAC -3'

Sequencing Primer
(F):5'- CAGTTCATGAAGATTCCTGGGAATAG -3'
(R):5'- GGCAGGAAATCTCAGACTTTCAGC -3'

Posted On

2019-12-04