Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Morc2a'

187124

Institutional Source

Beutler Lab

Gene Symbol

Morc2a

Ensembl Gene

ENSMUSG00000034543

Gene Name

microrchidia 2A

Synonyms

8430403M08Rik, Zcwcc1

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3599191-3640477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3625885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 162 (V162M)

Ref Sequence

ENSEMBL: ENSMUSP00000094176 (fasta)

Gene Model

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

AlphaFold

Q69ZX6

Predicted Effect

probably benign
Transcript: ENSMUST00000093389
AA Change: V162M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091087
Gene: ENSMUSG00000034543
AA Change: V162M

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: V162M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094176
Gene: ENSMUSG00000034543
AA Change: V162M

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Pou2f2	T	A	7: 24,792,149 (GRCm39)	T569S	possibly damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Sec63	T	A	10: 42,674,724 (GRCm39)		probably null	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	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
R0136:Morc2a	UTSW	11	3,635,907 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- ACTTTGGAGGCACAAACCAGCATAG -3'
(R):5'- AGGCAGGAAATCTCAGACTTTCAGC -3'

Sequencing Primer
(F):5'- CCAGCATAGTGACAGAAGTTTG -3'
(R):5'- AGATGATCACCAGTGTTCCTG -3'

Posted On

2014-05-09