Mutagenetix > Incidental Mutation

Incidental Mutation 'R3154:Spesp1'

263412

Institutional Source

Beutler Lab

Gene Symbol

Spesp1

Ensembl Gene

ENSMUSG00000046846

Gene Name

sperm equatorial segment protein 1

Synonyms

4921508E09Rik

MMRRC Submission

040605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62178011-62189461 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 62189376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058522 (fasta)

Gene Model

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

AlphaFold

Q9D5A0

Predicted Effect

probably benign
Transcript: ENSMUST00000056949

SMART Domains

Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Ap1b1	T	C	11: 4,973,135 (GRCm39)	V326A	possibly damaging	Het
Bdp1	A	T	13: 100,186,322 (GRCm39)	V1710E	probably damaging	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Cobll1	A	T	2: 64,937,394 (GRCm39)	M406K	probably benign	Het
Cyp2d34	T	C	15: 82,501,767 (GRCm39)	K248E	probably benign	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Dgat1	G	A	15: 76,386,721 (GRCm39)	L439F	probably benign	Het
Disc1	T	A	8: 125,862,043 (GRCm39)	S472T	probably damaging	Het
Dnajb3	C	A	1: 88,132,773 (GRCm39)	V210F	probably benign	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Fn1	A	T	1: 71,632,242 (GRCm39)	C2335S	probably damaging	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gpld1	G	T	13: 25,140,146 (GRCm39)		probably null	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Gsdme	T	C	6: 50,228,343 (GRCm39)	R42G	probably damaging	Het
Gtf3c5	T	C	2: 28,469,548 (GRCm39)	T119A	probably damaging	Het
Hs6st3	T	C	14: 120,106,389 (GRCm39)	S266P	probably damaging	Het
Htr2a	T	C	14: 74,943,262 (GRCm39)	F281L	probably benign	Het
Hus1b	T	C	13: 31,131,236 (GRCm39)	K141R	probably benign	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Klhdc7a	T	A	4: 139,693,024 (GRCm39)	Y641F	probably benign	Het
Kri1	T	C	9: 21,193,190 (GRCm39)	E57G	possibly damaging	Het
Map4	A	G	9: 109,828,860 (GRCm39)	T82A	probably benign	Het
Mthfr	T	G	4: 148,136,061 (GRCm39)	M353R	probably benign	Het
Mtus2	A	G	5: 148,240,083 (GRCm39)		probably benign	Het
Muc5ac	T	A	7: 141,346,473 (GRCm39)		probably null	Het
Myo15a	T	A	11: 60,370,186 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,101,044 (GRCm39)	Q278L	possibly damaging	Het
Pced1b	T	G	15: 97,282,423 (GRCm39)		probably null	Het
Penk	T	C	4: 4,134,152 (GRCm39)	D165G	probably damaging	Het
Pfkm	T	A	15: 98,016,090 (GRCm39)	V90D	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Psg28	C	A	7: 18,160,348 (GRCm39)	A283S	possibly damaging	Het
Rgl3	A	G	9: 21,892,070 (GRCm39)	L338P	probably damaging	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Ros1	T	C	10: 51,927,077 (GRCm39)	H2181R	probably benign	Het
Slc38a11	C	T	2: 65,160,679 (GRCm39)	C305Y	probably damaging	Het
Speg	T	A	1: 75,378,186 (GRCm39)	V798E	probably damaging	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Syt2	T	C	1: 134,669,599 (GRCm39)	L80P	possibly damaging	Het
Tra2a	C	T	6: 49,222,446 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Vmn2r38	T	C	7: 9,097,689 (GRCm39)	T135A	probably benign	Het
Wipf1	A	G	2: 73,267,834 (GRCm39)	V188A	possibly damaging	Het
Yipf2	G	A	9: 21,501,197 (GRCm39)	A67V	probably benign	Het
Zfp759	A	G	13: 67,286,719 (GRCm39)	E96G	probably benign	Het
Zic3	G	A	X: 57,076,838 (GRCm39)	V100M	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
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
R9684:Spesp1	UTSW	9	62,180,545 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTAGGAGTTGAGCATCCTGG -3'
(R):5'- TTCCTAGTCTGAGCAGTCCTAAC -3'

Sequencing Primer
(F):5'- TTGAGCATCCTGGGGGCAAC -3'
(R):5'- TCTGAGCAGTCCTAACACGCATG -3'

Posted On

2015-02-05