Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Morc2a'

261802

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

8430403M08Rik, Zcwcc1

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3599191-3640477 bp(+) (GRCm39)

Type of Mutation

splice site (25 bp from exon)

DNA Base Change (assembly)

T to G at 3635907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094176 (fasta)

Gene Model

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

AlphaFold

Q69ZX6

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000126035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131517

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	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
IGL02860:Morc2a	APN	11	3,611,821 (GRCm39)	splice site	probably benign
IGL03372:Morc2a	APN	11	3,631,813 (GRCm39)	splice site	probably benign
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

Predicted Primers

Posted On

2015-02-04