Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:Spa17'

683446

Institutional Source

Beutler Lab

Gene Symbol

Spa17

Ensembl Gene

ENSMUSG00000001948

Gene Name

sperm autoantigenic protein 17

Synonyms

Sp17, band 34

MMRRC Submission

068810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37514590-37525018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37523254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 11 (R11Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002013] [ENSMUST00000213126] [ENSMUST00000214786] [ENSMUST00000215474] [ENSMUST00000215829]

AlphaFold

Q62252

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002013
AA Change: R11Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002013
Gene: ENSMUSG00000001948
AA Change: R11Q

Domain	Start	End	E-Value	Type
RIIa	14	51	7.04e-15	SMART
low complexity region	75	86	N/A	INTRINSIC
IQ	111	133	7.4e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214786
AA Change: R11Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000215474

Predicted Effect

probably benign
Transcript: ENSMUST00000215829

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	A	G	3: 87,635,321 (GRCm39)	I906V	probably benign	Het
Atad2b	T	A	12: 4,967,923 (GRCm39)		probably null	Het
Atr	T	A	9: 95,772,819 (GRCm39)	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,223,117 (GRCm39)	H73Q	probably benign	Het
Bdp1	C	A	13: 100,197,407 (GRCm39)	G993*	probably null	Het
Cacna2d4	A	T	6: 119,315,118 (GRCm39)	I883F	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Crem	A	G	18: 3,268,088 (GRCm39)	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,479,399 (GRCm39)	K62E	probably benign	Het
Dnah17	T	A	11: 117,917,666 (GRCm39)	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,135,505 (GRCm39)	P423S	probably damaging	Het
Dop1b	G	T	16: 93,558,969 (GRCm39)	V572L	probably benign	Het
F12	T	A	13: 55,569,777 (GRCm39)		probably benign	Het
F2	A	G	2: 91,466,738 (GRCm39)	S2P	probably benign	Het
Fam171a2	T	C	11: 102,329,451 (GRCm39)	E436G	possibly damaging	Het
Fat1	T	C	8: 45,484,332 (GRCm39)	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882 (GRCm38)		probably null	Het
Frs3	A	T	17: 48,009,546 (GRCm39)	D9V	probably benign	Het
Galnt17	T	G	5: 130,935,543 (GRCm39)	E380A	probably benign	Het
Glrb	A	C	3: 80,758,363 (GRCm39)	V350G	probably damaging	Het
Helz2	T	A	2: 180,876,486 (GRCm39)	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,428,650 (GRCm39)	V159E	probably damaging	Het
Igf2r	T	C	17: 12,945,659 (GRCm39)	E310G	probably damaging	Het
Il2rb	C	T	15: 78,370,681 (GRCm39)	D145N	probably benign	Het
Iqcb1	A	G	16: 36,692,005 (GRCm39)	I535V	probably benign	Het
Keap1	A	C	9: 21,142,663 (GRCm39)	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,960,957 (GRCm39)	W456R	probably damaging	Het
Med12l	T	A	3: 59,183,329 (GRCm39)	H1910Q	probably damaging	Het
Mybphl	G	A	3: 108,272,334 (GRCm39)	E8K	probably damaging	Het
Odad3	T	A	9: 21,903,334 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,363 (GRCm39)	S26G	probably benign	Het
Or10a4	T	C	7: 106,697,466 (GRCm39)	S265P	possibly damaging	Het
Or5p73	T	A	7: 108,064,630 (GRCm39)	I33N	possibly damaging	Het
Or6f2	T	C	7: 139,756,885 (GRCm39)	V284A	probably damaging	Het
Or7a38	T	C	10: 78,753,418 (GRCm39)	I248T	possibly damaging	Het
Or7g22	T	A	9: 19,049,141 (GRCm39)	M284K	probably damaging	Het
Pcdhb22	G	A	18: 37,651,396 (GRCm39)		probably benign	Het
Plekha8	A	T	6: 54,607,521 (GRCm39)	E376V	probably damaging	Het
Polr2a	A	G	11: 69,638,037 (GRCm39)	V144A	possibly damaging	Het
Pramel34	T	A	5: 93,785,977 (GRCm39)	N101I	probably damaging	Het
Prr18	T	C	17: 8,560,047 (GRCm39)	S68P	probably damaging	Het
Ptprk	G	A	10: 28,461,669 (GRCm39)	R1153H	probably damaging	Het
Pus1	A	G	5: 110,922,789 (GRCm39)	F293L	possibly damaging	Het
Shank3	A	G	15: 89,442,381 (GRCm39)	E1758G	probably damaging	Het
Ska3	A	T	14: 58,057,851 (GRCm39)	I167N	probably damaging	Het
Ski	A	G	4: 155,242,411 (GRCm39)	S663P	probably damaging	Het
Slc49a3	A	C	5: 108,589,897 (GRCm39)	S502A	probably benign	Het
Spag5	T	C	11: 78,195,413 (GRCm39)	V240A	probably benign	Het
Srl	A	T	16: 4,300,894 (GRCm39)	Y726N	probably damaging	Het
Ssbp4	A	T	8: 71,052,336 (GRCm39)		probably null	Het
Surf1	A	T	2: 26,805,767 (GRCm39)	C48S	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem176b	A	G	6: 48,812,600 (GRCm39)	S122P	probably damaging	Het
Trim23	G	T	13: 104,328,545 (GRCm39)	L355F	probably damaging	Het
Ttn	G	A	2: 76,545,110 (GRCm39)	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,502,220 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,511,169 (GRCm39)	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,719 (GRCm39)	I91V	probably benign	Het
Vmn2r10	T	A	5: 109,145,479 (GRCm39)	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,694,752 (GRCm39)	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,487,079 (GRCm39)	Y585H	possibly damaging	Het

Other mutations in Spa17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0575:Spa17	UTSW	9	37,514,689 (GRCm39)	missense	probably damaging	0.99
R3789:Spa17	UTSW	9	37,523,141 (GRCm39)	missense	possibly damaging	0.89
R5244:Spa17	UTSW	9	37,523,285 (GRCm39)	start codon destroyed	probably damaging	1.00
R5503:Spa17	UTSW	9	37,523,273 (GRCm39)	missense	probably damaging	1.00
R6612:Spa17	UTSW	9	37,517,090 (GRCm39)	missense	probably benign	0.14
R6636:Spa17	UTSW	9	37,523,270 (GRCm39)	missense	probably benign	0.45
R6637:Spa17	UTSW	9	37,523,270 (GRCm39)	missense	probably benign	0.45
R7233:Spa17	UTSW	9	37,514,587 (GRCm39)	splice site	probably null
R9716:Spa17	UTSW	9	37,518,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGAAGACATGTATATTCCTC -3'
(R):5'- AGCACCAGGACCTAGATTGTG -3'

Sequencing Primer
(F):5'- CAAAATACGCTGCGGCA -3'
(R):5'- AGTGAGTTGGTTTGTGAAAC -3'

Posted On

2021-10-11