Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Morc1'

44790

Institutional Source

Beutler Lab

Gene Symbol

Morc1

Ensembl Gene

ENSMUSG00000022652

Gene Name

microrchidia 1

Synonyms

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48431237-48630900 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48565657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 548 (R548G)

Ref Sequence

ENSEMBL: ENSMUSP00000023330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023330]

AlphaFold

Q9WVL5

Predicted Effect

probably benign
Transcript: ENSMUST00000023330
AA Change: R548G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: R548G

Domain	Start	End	E-Value	Type
Pfam:HATPase_c_3	24	161	3.8e-21	PFAM
low complexity region	196	206	N/A	INTRINSIC
coiled coil region	281	311	N/A	INTRINSIC
Pfam:zf-CW	481	528	2e-14	PFAM
low complexity region	639	651	N/A	INTRINSIC
coiled coil region	885	916	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232256

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]
PHENOTYPE: Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Morc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Morc1	APN	16	48612326	missense	probably damaging	0.98
IGL00815:Morc1	APN	16	48460692	missense	possibly damaging	0.62
IGL00939:Morc1	APN	16	48452589	missense	probably damaging	0.99
IGL01321:Morc1	APN	16	48582462	missense	probably benign	0.00
IGL01410:Morc1	APN	16	48612314	missense	probably benign	0.16
IGL01557:Morc1	APN	16	48498766	missense	probably damaging	1.00
IGL02118:Morc1	APN	16	48587104	missense	probably benign	0.01
IGL02626:Morc1	APN	16	48615760	missense	probably damaging	0.96
IGL02692:Morc1	APN	16	48510233	missense	probably null	0.95
IGL02812:Morc1	APN	16	48558506	splice site	probably benign
IGL03232:Morc1	APN	16	48630802	missense	probably benign	0.06
IGL03331:Morc1	APN	16	48612368	splice site	probably benign
IGL03408:Morc1	APN	16	48442412	missense	probably damaging	1.00
R0569:Morc1	UTSW	16	48587122	missense	probably benign	0.02
R0699:Morc1	UTSW	16	48592614	missense	probably benign	0.01
R1717:Morc1	UTSW	16	48452477	missense	probably benign	0.01
R1728:Morc1	UTSW	16	48612297	missense	probably benign	0.10
R1803:Morc1	UTSW	16	48622638	missense	probably benign	0.14
R1864:Morc1	UTSW	16	48592530	missense	probably benign	0.01
R2008:Morc1	UTSW	16	48565646	missense	probably benign	0.41
R2070:Morc1	UTSW	16	48592611	missense	probably benign	0.00
R2071:Morc1	UTSW	16	48592611	missense	probably benign	0.00
R4851:Morc1	UTSW	16	48561617	missense	probably benign	0.02
R5013:Morc1	UTSW	16	48502336	missense	probably benign	0.11
R5081:Morc1	UTSW	16	48502352	missense	probably benign	0.01
R5259:Morc1	UTSW	16	48630769	missense	probably benign	0.12
R5342:Morc1	UTSW	16	48618509	missense	probably damaging	0.99
R5481:Morc1	UTSW	16	48561485	splice site	probably null
R5561:Morc1	UTSW	16	48449348	missense	probably benign	0.43
R6356:Morc1	UTSW	16	48437289	missense	probably damaging	1.00
R6526:Morc1	UTSW	16	48587124	nonsense	probably null
R6743:Morc1	UTSW	16	48502320	missense	probably damaging	0.98
R6940:Morc1	UTSW	16	48479845	nonsense	probably null
R6994:Morc1	UTSW	16	48565621	missense	probably benign	0.00
R6994:Morc1	UTSW	16	48618546	missense	probably benign	0.39
R7009:Morc1	UTSW	16	48627070	missense	possibly damaging	0.69
R7346:Morc1	UTSW	16	48630900	splice site	probably null
R7357:Morc1	UTSW	16	48622590	missense	probably benign	0.14
R7448:Morc1	UTSW	16	48431345	missense	probably damaging	0.97
R7840:Morc1	UTSW	16	48498784	missense	probably benign	0.03
R8417:Morc1	UTSW	16	48460740	missense	probably damaging	0.99
X0013:Morc1	UTSW	16	48587068	missense	probably benign	0.04
X0027:Morc1	UTSW	16	48498811	missense	probably damaging	1.00
Z1176:Morc1	UTSW	16	48587058	missense	probably benign	0.03
Z1177:Morc1	UTSW	16	48565706	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATGTAGCTCCTTCCCATACCAACTGA -3'
(R):5'- CAGAGTAGAAAGAAATGCCTTGTCCCC -3'

Sequencing Primer
(F):5'- AGAGTCAAATTGTGGGTGTATAATAG -3'
(R):5'- GATGGTCTTAGATAGTACCTATGCAG -3'

Posted On

2013-06-11