Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Spo11'

427260

Institutional Source

Beutler Lab

Gene Symbol

Spo11

Ensembl Gene

ENSMUSG00000005883

Gene Name

SPO11 initiator of meiotic double stranded breaks

Synonyms

Spo11a, Spo11b

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172819493-172835369 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 172831152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050442] [ENSMUST00000109125] [ENSMUST00000109126]

AlphaFold

Q9WTK8

Predicted Effect

probably benign
Transcript: ENSMUST00000050442

SMART Domains

Protein: ENSMUSP00000059056
Gene: ENSMUSG00000005883

Domain	Start	End	E-Value	Type
Pfam:SPO11_like	2	44	6.3e-28	PFAM
Pfam:TP6A_N	107	170	3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109125

SMART Domains

Protein: ENSMUSP00000104753
Gene: ENSMUSG00000005883

Domain	Start	End	E-Value	Type
Pfam:SPO11_like	2	44	1e-30	PFAM
Pfam:TP6A_N	66	133	3.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109126

SMART Domains

Protein: ENSMUSP00000104754
Gene: ENSMUSG00000005883

Domain	Start	End	E-Value	Type
Pfam:SPO11_like	2	44	1.1e-30	PFAM
Pfam:TP6A_N	102	146	1.9e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156471

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are sterile. Mutant males exhibit loss of spermatocytes in early prophase, while mutant females exhibit oocyte loss soon after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gm5114	T	A	7: 39,058,289 (GRCm39)	K443N	probably benign	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly damaging	Het

Other mutations in Spo11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Spo11	APN	2	172,830,825 (GRCm39)	critical splice donor site	probably null
IGL02080:Spo11	APN	2	172,831,188 (GRCm39)	missense	probably damaging	1.00
IGL02309:Spo11	APN	2	172,821,744 (GRCm39)	missense	probably damaging	0.98
R3027:Spo11	UTSW	2	172,827,736 (GRCm39)	missense	probably damaging	0.99
R4031:Spo11	UTSW	2	172,828,625 (GRCm39)	splice site	probably benign
R5000:Spo11	UTSW	2	172,831,193 (GRCm39)	missense	probably damaging	1.00
R7185:Spo11	UTSW	2	172,823,985 (GRCm39)	splice site	probably null
R7486:Spo11	UTSW	2	172,825,870 (GRCm39)	missense	probably benign	0.01
R7565:Spo11	UTSW	2	172,833,864 (GRCm39)	missense	possibly damaging	0.65
R7958:Spo11	UTSW	2	172,825,815 (GRCm39)	missense	probably benign	0.00
R8120:Spo11	UTSW	2	172,827,251 (GRCm39)	missense	probably damaging	0.98
R9776:Spo11	UTSW	2	172,833,904 (GRCm39)	missense	possibly damaging	0.92
X0061:Spo11	UTSW	2	172,834,843 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATTTGCATAGTACACTGTG -3'
(R):5'- GAGATCACCATCTCCCTAGGAC -3'

Sequencing Primer
(F):5'- CATGCATGACGTCCTAGGTTCAATG -3'
(R):5'- CTAGGACATTCTGGAAAGCCCTG -3'

Posted On

2016-09-01