Incidental Mutation 'R0575:Spa17'
ID 56192
Institutional Source Beutler Lab
Gene Symbol Spa17
Ensembl Gene ENSMUSG00000001948
Gene Name sperm autoantigenic protein 17
Synonyms Sp17, band 34
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R0575 (G1)
Quality Score 129
Status Validated
Chromosome 9
Chromosomal Location 37514590-37525018 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37514689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 133 (K133E)
Ref Sequence ENSEMBL: ENSMUSP00000002013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002013] [ENSMUST00000213126] [ENSMUST00000214786]
AlphaFold Q62252
Predicted Effect probably damaging
Transcript: ENSMUST00000002013
AA Change: K133E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002013
Gene: ENSMUSG00000001948
AA Change: K133E

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000214786
Meta Mutation Damage Score 0.1481 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Spa17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8976:Spa17 UTSW 9 37,523,254 (GRCm39) missense possibly damaging 0.93
R9716:Spa17 UTSW 9 37,518,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTAGTCCACAACATCACGTCTCCC -3'
(R):5'- TGGCATTCAGCCCTTGGTACAC -3'

Sequencing Primer
(F):5'- ACATCACGTCTCCCTTACTGAAG -3'
(R):5'- GCCCTTGGTACACATACAGTG -3'
Posted On 2013-07-11