Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Spesp1'

313677

Institutional Source

Beutler Lab

Gene Symbol

Spesp1

Ensembl Gene

ENSMUSG00000046846

Gene Name

sperm equatorial segment protein 1

Synonyms

4921508E09Rik

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4035 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,879 (GRCm39)	F34L	probably benign	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ano5	A	G	7: 51,216,233 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,808,754 (GRCm39)	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,835,541 (GRCm39)	T52A	probably benign	Het
Coro2b	A	G	9: 62,333,071 (GRCm39)		probably benign	Het
Ctcf	A	T	8: 106,390,789 (GRCm39)	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Cxcl2	A	T	5: 91,052,272 (GRCm39)	Q87L	possibly damaging	Het
Dop1a	T	C	9: 86,376,486 (GRCm39)	V240A	probably damaging	Het
Etfdh	C	T	3: 79,521,018 (GRCm39)	V294I	probably benign	Het
Fnip2	C	T	3: 79,386,808 (GRCm39)	V973I	probably benign	Het
Fyco1	T	C	9: 123,630,348 (GRCm39)	T1286A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gsdme	A	T	6: 50,206,428 (GRCm39)	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,751,172 (GRCm39)	D266G	probably benign	Het
Henmt1	T	C	3: 108,866,001 (GRCm39)	V199A	probably damaging	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
Isl2	A	G	9: 55,449,754 (GRCm39)	S119G	probably benign	Het
Krba1	A	G	6: 48,388,614 (GRCm39)	N538D	probably damaging	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Ndst4	C	T	3: 125,232,385 (GRCm39)	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,341,821 (GRCm39)	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,069,797 (GRCm39)		probably benign	Het
Or6d12	A	G	6: 116,493,590 (GRCm39)	N284S	possibly damaging	Het
Or8b4	G	A	9: 37,829,937 (GRCm39)		probably benign	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Ppfibp1	A	G	6: 146,898,334 (GRCm39)	K97E	probably damaging	Het
Pramel26	T	A	4: 143,537,026 (GRCm39)	D435V	probably benign	Het
Prpsap1	A	T	11: 116,363,834 (GRCm39)	M263K	probably benign	Het
Prtg	G	T	9: 72,749,991 (GRCm39)	E132*	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rttn	T	C	18: 89,013,777 (GRCm39)	V482A	probably benign	Het
Samsn1	A	G	16: 75,706,073 (GRCm39)	M1T	probably null	Het
Scel	A	G	14: 103,767,440 (GRCm39)	N33S	probably damaging	Het
Sema4g	A	T	19: 44,989,853 (GRCm39)	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,851,234 (GRCm39)	T752M	probably damaging	Het
Snx27	T	C	3: 94,431,551 (GRCm39)	D281G	probably damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,199 (GRCm39)		probably null	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ttk	C	A	9: 83,736,890 (GRCm39)	P450T	possibly damaging	Het
Ttn	T	G	2: 76,740,165 (GRCm39)	Q3458P	probably benign	Het
Ube2z	A	G	11: 95,951,893 (GRCm39)	F152L	probably damaging	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp267	T	G	3: 36,218,989 (GRCm39)	H337Q	possibly 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
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'- ATTCAGTGAGTGACGTCCAG -3'
(R):5'- AGTACAGCATTCTGGTCCATC -3'

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

Posted On

2015-04-30