Mutagenetix > Incidental Mutation

Incidental Mutation 'R3737:Spesp1'

270176

Institutional Source

Beutler Lab

Gene Symbol

Spesp1

Ensembl Gene

ENSMUSG00000046846

Gene Name

sperm equatorial segment protein 1

Synonyms

4921508E09Rik

MMRRC Submission

040724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62178011-62189461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62180318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 197 (I197L)

Ref Sequence

ENSEMBL: ENSMUSP00000058522 (fasta)

Gene Model

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

AlphaFold

Q9D5A0

Predicted Effect

probably benign
Transcript: ENSMUST00000056949
AA Change: I197L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846
AA Change: I197L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Arap1	A	T	7: 101,049,484 (GRCm39)	Y982F	possibly damaging	Het
Bicral	A	T	17: 47,136,836 (GRCm39)	Y125N	probably damaging	Het
Brd2	A	G	17: 34,336,054 (GRCm39)	L53S	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Clca3a1	A	G	3: 144,436,482 (GRCm39)	V867A	probably benign	Het
Dchs1	T	A	7: 105,411,523 (GRCm39)	D1531V	possibly damaging	Het
Dnah9	G	A	11: 66,047,734 (GRCm39)	Q29*	probably null	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Fgfbp1	T	C	5: 44,136,938 (GRCm39)	Y118C	probably damaging	Het
Gal3st2c	A	G	1: 93,937,050 (GRCm39)	I332V	possibly damaging	Het
Gprc6a	A	C	10: 51,503,007 (GRCm39)	N285K	probably benign	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Hmgcr	C	G	13: 96,787,571 (GRCm39)	L852F	probably damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Il36rn	T	C	2: 24,171,215 (GRCm39)	F101S	probably damaging	Het
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Kctd9	G	A	14: 67,971,737 (GRCm39)	D157N	possibly damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Mon2	A	G	10: 122,849,280 (GRCm39)	L1340P	probably damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	C	CAGT	19: 46,069,816 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGTAG	19: 46,069,792 (GRCm39)		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,069,809 (GRCm39)		probably benign	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Pcm1	T	A	8: 41,714,080 (GRCm39)	Y215*	probably null	Het
Pde6c	T	A	19: 38,128,672 (GRCm39)	V212D	probably damaging	Het
Ppl	T	C	16: 4,924,721 (GRCm39)	T115A	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
R3hcc1	C	T	14: 69,935,042 (GRCm39)	R262Q	probably benign	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Ska3	A	T	14: 58,049,053 (GRCm39)	M306K	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tprg1l	T	C	4: 154,244,585 (GRCm39)	I137V	probably benign	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ube2j1	A	T	4: 33,036,723 (GRCm39)	M16L	probably benign	Het
Ubr3	G	A	2: 69,801,578 (GRCm39)		probably null	Het
Usp42	C	T	5: 143,701,194 (GRCm39)	S943N	probably benign	Het
Usp49	G	A	17: 47,983,243 (GRCm39)	V83M	probably damaging	Het
Usp6nl	C	A	2: 6,445,728 (GRCm39)	N568K	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Vmn1r55	T	G	7: 5,150,195 (GRCm39)	D76A	probably damaging	Het
Xrcc6	T	C	15: 81,913,832 (GRCm39)	Y53H	probably damaging	Het
Zbtb7c	T	G	18: 76,270,011 (GRCm39)	L33R	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
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
R9684:Spesp1	UTSW	9	62,180,545 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGTGAGTGACGTCCAGG -3'
(R):5'- GTACAGCATTCTGGTCCATCCG -3'

Sequencing Primer
(F):5'- TGACGTCCAGGTAAGTCTTCAGC -3'
(R):5'- TGTTTTACGCACGGAGGAACC -3'

Posted On

2015-03-18