Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00939:Morc1'

29158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Morc1

Ensembl Gene

ENSMUSG00000022652

Gene Name

microrchidia 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL00939

Quality Score

Status

Chromosome

Chromosomal Location

48251600-48451263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48272952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 193 (C193Y)

Ref Sequence

ENSEMBL: ENSMUSP00000023330 (fasta)

Gene Model

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

AlphaFold

Q9WVL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023330
AA Change: C193Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: C193Y

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

Coding Region Coverage

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	A	5: 35,981,359 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,942,543 (GRCm39)	V2061A	probably damaging	Het
Csnk1a1	A	G	18: 61,708,521 (GRCm39)	D194G	probably damaging	Het
Dop1b	T	A	16: 93,570,971 (GRCm39)	S1657T	possibly damaging	Het
Hcn4	A	G	9: 58,751,210 (GRCm39)	I279V	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Lamb1	T	C	12: 31,352,926 (GRCm39)	S828P	probably damaging	Het
Nudt16l1	T	C	16: 4,757,299 (GRCm39)	F71L	probably benign	Het
Nup50	T	G	15: 84,822,621 (GRCm39)	L381*	probably null	Het
Pccb	A	G	9: 100,867,922 (GRCm39)	S372P	probably damaging	Het
Rnf19b	A	G	4: 128,965,582 (GRCm39)	R227G	probably damaging	Het
Ror1	A	G	4: 100,298,423 (GRCm39)	I599V	probably benign	Het
Sipa1l2	A	G	8: 126,191,174 (GRCm39)		probably benign	Het
Sowahb	A	T	5: 93,191,701 (GRCm39)	D339E	probably benign	Het
Ssc5d	C	T	7: 4,939,280 (GRCm39)	T572I	possibly damaging	Het
Tnn	A	G	1: 159,975,100 (GRCm39)	L109P	probably damaging	Het
Ttn	T	C	2: 76,540,425 (GRCm39)	Q34187R	possibly damaging	Het
Ube2j2	A	G	4: 156,040,904 (GRCm39)	E177G	possibly damaging	Het
Vmn2r103	A	G	17: 20,015,227 (GRCm39)	T456A	probably benign	Het
Wdr1	T	C	5: 38,692,666 (GRCm39)	T80A	probably benign	Het

Other mutations in Morc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Morc1	APN	16	48,432,689 (GRCm39)	missense	probably damaging	0.98
IGL00815:Morc1	APN	16	48,281,055 (GRCm39)	missense	possibly damaging	0.62
IGL01321:Morc1	APN	16	48,402,825 (GRCm39)	missense	probably benign	0.00
IGL01410:Morc1	APN	16	48,432,677 (GRCm39)	missense	probably benign	0.16
IGL01557:Morc1	APN	16	48,319,129 (GRCm39)	missense	probably damaging	1.00
IGL02118:Morc1	APN	16	48,407,467 (GRCm39)	missense	probably benign	0.01
IGL02626:Morc1	APN	16	48,436,123 (GRCm39)	missense	probably damaging	0.96
IGL02692:Morc1	APN	16	48,330,596 (GRCm39)	missense	probably null	0.95
IGL02812:Morc1	APN	16	48,378,869 (GRCm39)	splice site	probably benign
IGL03232:Morc1	APN	16	48,451,165 (GRCm39)	missense	probably benign	0.06
IGL03331:Morc1	APN	16	48,432,731 (GRCm39)	splice site	probably benign
IGL03408:Morc1	APN	16	48,262,775 (GRCm39)	missense	probably damaging	1.00
R0545:Morc1	UTSW	16	48,386,020 (GRCm39)	missense	probably benign	0.05
R0569:Morc1	UTSW	16	48,407,485 (GRCm39)	missense	probably benign	0.02
R0699:Morc1	UTSW	16	48,412,977 (GRCm39)	missense	probably benign	0.01
R1717:Morc1	UTSW	16	48,272,840 (GRCm39)	missense	probably benign	0.01
R1728:Morc1	UTSW	16	48,432,660 (GRCm39)	missense	probably benign	0.10
R1803:Morc1	UTSW	16	48,443,001 (GRCm39)	missense	probably benign	0.14
R1864:Morc1	UTSW	16	48,412,893 (GRCm39)	missense	probably benign	0.01
R2008:Morc1	UTSW	16	48,386,009 (GRCm39)	missense	probably benign	0.41
R2070:Morc1	UTSW	16	48,412,974 (GRCm39)	missense	probably benign	0.00
R2071:Morc1	UTSW	16	48,412,974 (GRCm39)	missense	probably benign	0.00
R4851:Morc1	UTSW	16	48,381,980 (GRCm39)	missense	probably benign	0.02
R5013:Morc1	UTSW	16	48,322,699 (GRCm39)	missense	probably benign	0.11
R5081:Morc1	UTSW	16	48,322,715 (GRCm39)	missense	probably benign	0.01
R5259:Morc1	UTSW	16	48,451,132 (GRCm39)	missense	probably benign	0.12
R5342:Morc1	UTSW	16	48,438,872 (GRCm39)	missense	probably damaging	0.99
R5481:Morc1	UTSW	16	48,381,848 (GRCm39)	splice site	probably null
R5561:Morc1	UTSW	16	48,269,711 (GRCm39)	missense	probably benign	0.43
R6356:Morc1	UTSW	16	48,257,652 (GRCm39)	missense	probably damaging	1.00
R6526:Morc1	UTSW	16	48,407,487 (GRCm39)	nonsense	probably null
R6743:Morc1	UTSW	16	48,322,683 (GRCm39)	missense	probably damaging	0.98
R6940:Morc1	UTSW	16	48,300,208 (GRCm39)	nonsense	probably null
R6994:Morc1	UTSW	16	48,438,909 (GRCm39)	missense	probably benign	0.39
R6994:Morc1	UTSW	16	48,385,984 (GRCm39)	missense	probably benign	0.00
R7009:Morc1	UTSW	16	48,447,433 (GRCm39)	missense	possibly damaging	0.69
R7346:Morc1	UTSW	16	48,451,263 (GRCm39)	splice site	probably null
R7357:Morc1	UTSW	16	48,442,953 (GRCm39)	missense	probably benign	0.14
R7448:Morc1	UTSW	16	48,251,708 (GRCm39)	missense	probably damaging	0.97
R7840:Morc1	UTSW	16	48,319,147 (GRCm39)	missense	probably benign	0.03
R8417:Morc1	UTSW	16	48,281,103 (GRCm39)	missense	probably damaging	0.99
X0013:Morc1	UTSW	16	48,407,431 (GRCm39)	missense	probably benign	0.04
X0027:Morc1	UTSW	16	48,319,174 (GRCm39)	missense	probably damaging	1.00
Z1176:Morc1	UTSW	16	48,407,421 (GRCm39)	missense	probably benign	0.03
Z1177:Morc1	UTSW	16	48,386,069 (GRCm39)	missense	probably benign	0.05

Posted On

2013-04-17