Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Spesp1'

588606

Institutional Source

Beutler Lab

Gene Symbol

Spesp1

Ensembl Gene

ENSMUSG00000046846

Gene Name

sperm equatorial segment protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62270729-62282208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62272705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 307 (K307R)

Ref Sequence

ENSEMBL: ENSMUSP00000058522 (fasta)

Gene Model

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

AlphaFold

Q9D5A0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056949
AA Change: K307R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846
AA Change: K307R

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: 100.0%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	G	8: 45,970,451	Y75H	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy8	C	T	15: 64,921,033	G25S	probably benign	Het
Ahnak2	G	T	12: 112,788,129	D35E		Het
Birc6	T	C	17: 74,662,718	M4261T	probably damaging	Het
Caln1	T	G	5: 130,506,077	F45V	probably damaging	Het
Camta2	A	T	11: 70,681,546	I313N	possibly damaging	Het
Capns1	T	A	7: 30,190,114	E220V	probably damaging	Het
Carmil1	C	A	13: 24,013,332	V1374L	probably benign	Het
Casp2	T	G	6: 42,274,038	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,310,743	V19L	probably benign	Het
Ces1c	T	C	8: 93,124,511	N162D	probably benign	Het
Chd9	T	C	8: 91,036,389	S2281P	probably damaging	Het
Chst13	T	C	6: 90,309,017	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,285,680	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,921,996	T405S	probably benign	Het
Cmah	T	C	13: 24,435,647	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,860,381	M396K	probably benign	Het
Ddr2	A	T	1: 169,998,158	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,402,353	I145N	probably benign	Het
Ddx58	T	C	4: 40,225,651	E250G	probably damaging	Het
Ephb2	T	A	4: 136,660,901		probably null	Het
Fgfr1	A	T	8: 25,558,205	K106*	probably null	Het
Gpr6	A	G	10: 41,070,879	F236L	probably benign	Het
Grin2c	A	G	11: 115,252,685	S750P	probably damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Hmg20b	T	A	10: 81,349,598		probably benign	Het
Kcnk10	T	A	12: 98,518,640	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,632,429	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,200,571	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,395,518	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,615,107	A84T	probably benign	Het
Mmp19	A	G	10: 128,798,988	D491G	probably benign	Het
Mug1	A	T	6: 121,875,428		probably null	Het
Myh1	A	T	11: 67,210,417	H673L	possibly damaging	Het
Nlrc5	T	C	8: 94,512,648		probably null	Het
Nme9	T	A	9: 99,470,790	S264R	probably benign	Het
Nup153	T	C	13: 46,687,322	T937A	probably benign	Het
Obsl1	T	C	1: 75,505,380	E282G	probably damaging	Het
Olfr1030	T	A	2: 85,984,063	C74*	probably null	Het
Olfr1076	T	A	2: 86,509,053	I198K	possibly damaging	Het
Olfr1364	A	G	13: 21,574,318	V46A	probably benign	Het
Olfr1436	T	A	19: 12,298,878	M85L	probably damaging	Het
Olfr1451	T	A	19: 12,999,067	I27N	possibly damaging	Het
Olfr724	C	A	14: 49,960,911	A54S	probably benign	Het
Olfr98	A	G	17: 37,262,854	V270A	probably benign	Het
Pcdhga12	T	C	18: 37,768,425	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,605,083		probably null	Het
Prr29	C	G	11: 106,376,332	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,220	M1103K	probably benign	Het
Rsph4a	C	T	10: 33,905,477	P108S	probably benign	Het
Setd1b	A	C	5: 123,152,594	M875L	unknown	Het
Slc15a2	A	G	16: 36,756,311	S485P	probably benign	Het
Smoc1	A	G	12: 81,179,670	D423G	probably damaging	Het
Spast	T	A	17: 74,369,203	V337D	probably damaging	Het
Sulf1	A	G	1: 12,836,243	E503G	probably benign	Het
Susd6	T	C	12: 80,874,567	Y313H	probably damaging	Het
Them4	A	T	3: 94,331,558	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Tspear	A	T	10: 77,881,215	T575S	probably benign	Het
Usp21	A	T	1: 171,285,569	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,102,152	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,296,970	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,481,256	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,565,142	V53F	probably damaging	Het
Vmn2r76	A	G	7: 86,230,180	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,413,997	Y256S		Het
Zfhx4	A	T	3: 5,403,771	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,911,788	H224R	probably damaging	Het
Zfp865	A	G	7: 5,031,131	E705G	probably damaging	Het

Other mutations in Spesp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02557:Spesp1	APN	9	62273134	missense	possibly damaging	0.85
BB001:Spesp1	UTSW	9	62273451	missense	probably benign
BB011:Spesp1	UTSW	9	62273451	missense	probably benign
R0735:Spesp1	UTSW	9	62272685	missense	probably benign	0.32
R1051:Spesp1	UTSW	9	62272642	missense	possibly damaging	0.92
R2266:Spesp1	UTSW	9	62273552	missense	probably damaging	0.99
R3153:Spesp1	UTSW	9	62282094	start gained	probably benign
R3154:Spesp1	UTSW	9	62282094	start gained	probably benign
R3737:Spesp1	UTSW	9	62273036	missense	probably benign
R4035:Spesp1	UTSW	9	62273036	missense	probably benign
R5425:Spesp1	UTSW	9	62282049	missense	possibly damaging	0.48
R5461:Spesp1	UTSW	9	62272732	missense	probably damaging	0.98
R6278:Spesp1	UTSW	9	62272639	missense	probably benign	0.05
R6475:Spesp1	UTSW	9	62272433	missense	probably benign	0.33
R6941:Spesp1	UTSW	9	62272870	missense	probably damaging	0.98
R7003:Spesp1	UTSW	9	62282020	missense	possibly damaging	0.86
R7924:Spesp1	UTSW	9	62273451	missense	probably benign
R8694:Spesp1	UTSW	9	62272960	missense	probably benign	0.00
R8993:Spesp1	UTSW	9	62273270	missense	possibly damaging	0.89
R9044:Spesp1	UTSW	9	62273341	missense	probably benign	0.06
R9639:Spesp1	UTSW	9	62272956	missense	possibly damaging	0.84
R9684:Spesp1	UTSW	9	62273263	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGGCTTTGCATTTCTACCTG -3'
(R):5'- TGGACGTCACTCACTGAATACG -3'

Sequencing Primer
(F):5'- TTCTCAACTCAGCATTCACGACG -3'
(R):5'- GTCACTCACTGAATACGAGACATGAG -3'

Posted On

2019-10-24