Mutagenetix > Incidental Mutations

Incidental Mutation 'R4522:Spem1'

500662

Institutional Source

Beutler Lab

Gene Symbol

Spem1

Ensembl Gene

ENSMUSG00000041165

Gene Name

sperm maturation 1

Synonyms

MMRRC Submission

041765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69820876-69822180 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 69821805 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000045771] [ENSMUST00000056484] [ENSMUST00000056941] [ENSMUST00000108634]

Predicted Effect

probably null
Transcript: ENSMUST00000045771

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

Domain	Start	End	E-Value	Type
Pfam:Spem1	12	196	3.7e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000045771

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

Domain	Start	End	E-Value	Type
Pfam:Spem1	12	196	3.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056484

SMART Domains

Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	31	601	1.6e-199	PFAM
Pfam:Abhydrolase_3	180	372	4.8e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056941

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084

Domain	Start	End	E-Value	Type
Pfam:Spem1	1	261	2e-121	PFAM
low complexity region	281	294	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108634

SMART Domains

Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	30	601	2e-186	PFAM
Pfam:Abhydrolase_3	180	327	3.3e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670	N700D	probably benign	Het
Babam2	G	A	5: 32,007,242	V287M	probably damaging	Het
Brip1	T	C	11: 86,189,801	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,654,430	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Chaf1b	G	A	16: 93,901,295	A485T	probably benign	Het
Dock7	T	C	4: 98,962,224	R1594G	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Gm3739	T	A	14: 7,299,398	K86*	probably null	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Mark2	A	T	19: 7,285,948	D151E	probably damaging	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Nwd1	A	T	8: 72,670,951	D606V	probably damaging	Het
Olfr1132	T	A	2: 87,635,151	I199L	probably benign	Het
Pcbp1	T	C	6: 86,525,050	N289S	probably benign	Het
Plce1	T	C	19: 38,524,319	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,472,960	L55P	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec23b	T	A	2: 144,578,366	I450N	possibly damaging	Het
Speg	A	G	1: 75,428,330	E2922G	probably damaging	Het
Stxbp3-ps	A	T	19: 9,559,110		noncoding transcript	Het
Tmem38a	C	T	8: 72,572,161	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,592,584	T129A	probably benign	Het
Ttc28	A	G	5: 111,280,172	T1845A	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ush2a	C	T	1: 188,864,625	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zfp105	T	A	9: 122,930,056	V264E	possibly damaging	Het

Other mutations in Spem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Spem1	APN	11	69821817	missense	probably damaging	1.00
R0118:Spem1	UTSW	11	69821545	missense	possibly damaging	0.92
R0487:Spem1	UTSW	11	69821865	critical splice acceptor site	probably null
R0734:Spem1	UTSW	11	69821271	missense	probably damaging	1.00
R2483:Spem1	UTSW	11	69821518	missense	possibly damaging	0.95
R4866:Spem1	UTSW	11	69820929	missense	probably damaging	1.00
R5297:Spem1	UTSW	11	69820927	missense	probably damaging	1.00
R5404:Spem1	UTSW	11	69820937	missense	probably damaging	1.00
R5672:Spem1	UTSW	11	69821437	missense	probably damaging	1.00
R5989:Spem1	UTSW	11	69821125	missense	possibly damaging	0.65
R6803:Spem1	UTSW	11	69821148	missense	possibly damaging	0.84
R7234:Spem1	UTSW	11	69821804	critical splice donor site	probably null
R7631:Spem1	UTSW	11	69821583	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGGTCTGCTTCCTCAAGGG -3'
(R):5'- ACATTGGCATCAATTTGGTGACC -3'

Sequencing Primer
(F):5'- CAGCTTCCCAAGTGAAGTACTGG -3'
(R):5'- GCATCAATTTGGTGACCCTGGTC -3'

Posted On

2017-12-01