Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Spesp1'

728747

Institutional Source

Beutler Lab

Gene Symbol

Spesp1

Ensembl Gene

ENSMUSG00000046846

Gene Name

sperm equatorial segment protein 1

Synonyms

4921508E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62178011-62189461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62180545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 121 (F121S)

Ref Sequence

ENSEMBL: ENSMUSP00000058522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056949]

AlphaFold

Q9D5A0

Predicted Effect

probably damaging
Transcript: ENSMUST00000056949
AA Change: F121S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846
AA Change: F121S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:SPESP1	19	371	5.8e-155	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]
PHENOTYPE: Heterozygous and homozygous null mutant males show decreased fertilization frequency and delayed fertilization, otherwise homozygous null mice were healthy and showed no overt developmental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	Het

Other mutations in Spesp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02557:Spesp1	APN	9	62,180,416 (GRCm39)	missense	possibly damaging	0.85
BB001:Spesp1	UTSW	9	62,180,733 (GRCm39)	missense	probably benign
BB011:Spesp1	UTSW	9	62,180,733 (GRCm39)	missense	probably benign
R0735:Spesp1	UTSW	9	62,179,967 (GRCm39)	missense	probably benign	0.32
R1051:Spesp1	UTSW	9	62,179,924 (GRCm39)	missense	possibly damaging	0.92
R2266:Spesp1	UTSW	9	62,180,834 (GRCm39)	missense	probably damaging	0.99
R3153:Spesp1	UTSW	9	62,189,376 (GRCm39)	start gained	probably benign
R3154:Spesp1	UTSW	9	62,189,376 (GRCm39)	start gained	probably benign
R3737:Spesp1	UTSW	9	62,180,318 (GRCm39)	missense	probably benign
R4035:Spesp1	UTSW	9	62,180,318 (GRCm39)	missense	probably benign
R5425:Spesp1	UTSW	9	62,189,331 (GRCm39)	missense	possibly damaging	0.48
R5461:Spesp1	UTSW	9	62,180,014 (GRCm39)	missense	probably damaging	0.98
R6278:Spesp1	UTSW	9	62,179,921 (GRCm39)	missense	probably benign	0.05
R6475:Spesp1	UTSW	9	62,179,715 (GRCm39)	missense	probably benign	0.33
R6941:Spesp1	UTSW	9	62,180,152 (GRCm39)	missense	probably damaging	0.98
R7003:Spesp1	UTSW	9	62,189,302 (GRCm39)	missense	possibly damaging	0.86
R7611:Spesp1	UTSW	9	62,179,987 (GRCm39)	missense	possibly damaging	0.71
R7924:Spesp1	UTSW	9	62,180,733 (GRCm39)	missense	probably benign
R8694:Spesp1	UTSW	9	62,180,242 (GRCm39)	missense	probably benign	0.00
R8993:Spesp1	UTSW	9	62,180,552 (GRCm39)	missense	possibly damaging	0.89
R9044:Spesp1	UTSW	9	62,180,623 (GRCm39)	missense	probably benign	0.06
R9639:Spesp1	UTSW	9	62,180,238 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCTTCGGGCTCTGACATTTG -3'
(R):5'- TAATGAGTGTCCCCACCAAGG -3'

Sequencing Primer
(F):5'- ACATTTGCCGGGATTCAGC -3'
(R):5'- TCTTCAAGAACTGTGGATAGCGC -3'

Posted On

2022-10-06