Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01557:Morc1'

90758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Morc1

Ensembl Gene

ENSMUSG00000022652

Gene Name

microrchidia 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

48251600-48451263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48319129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 278 (S278T)

Ref Sequence

ENSEMBL: ENSMUSP00000023330 (fasta)

Gene Model

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

AlphaFold

Q9WVL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023330
AA Change: S278T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: S278T

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,792 (GRCm39)		probably null	Het
Arl9	T	G	5: 77,151,948 (GRCm39)		probably null	Het
Ces3a	C	A	8: 105,784,383 (GRCm39)	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,921,711 (GRCm39)	W408R	probably damaging	Het
Defb22	T	G	2: 152,327,999 (GRCm39)	D62A	possibly damaging	Het
Dnah17	C	T	11: 117,964,512 (GRCm39)	R2422Q	probably damaging	Het
Ehd3	A	G	17: 74,112,275 (GRCm39)	K13R	probably benign	Het
Fndc1	T	C	17: 7,975,221 (GRCm39)	E1406G	probably damaging	Het
Gak	A	C	5: 108,732,203 (GRCm39)	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,923,522 (GRCm39)	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,331,472 (GRCm39)	E68G	probably benign	Het
Itpr2	T	C	6: 146,060,474 (GRCm39)	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,584,192 (GRCm39)	C317W	probably damaging	Het
Mrps9	T	C	1: 42,890,510 (GRCm39)	V20A	probably benign	Het
Nutm1	A	T	2: 112,082,163 (GRCm39)	N304K	probably benign	Het
Or14j8	G	A	17: 38,263,742 (GRCm39)	P58S	probably damaging	Het
Pcdhb9	T	C	18: 37,536,100 (GRCm39)	V698A	probably damaging	Het
Pitrm1	C	A	13: 6,602,720 (GRCm39)	D70E	probably benign	Het
Pkhd1	T	C	1: 20,187,203 (GRCm39)	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,618,086 (GRCm39)		probably null	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn5	T	C	7: 46,731,636 (GRCm39)	Y411C	probably damaging	Het
Spon2	G	A	5: 33,374,047 (GRCm39)	A112V	probably damaging	Het
Zfp648	T	A	1: 154,080,426 (GRCm39)	V195D	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
IGL00939:Morc1	APN	16	48,272,952 (GRCm39)	missense	probably damaging	0.99
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
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

2013-12-09