Incidental Mutation 'R4306:Spaca7b'
ID 324034
Institutional Source Beutler Lab
Gene Symbol Spaca7b
Ensembl Gene ENSMUSG00000031509
Gene Name sperm acrosome associated 7B
Synonyms 1700016D06Rik, GC14
MMRRC Submission 041092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R4306 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11705478-11728749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11728590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 27 (N27I)
Ref Sequence ENSEMBL: ENSMUSP00000033906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033906] [ENSMUST00000190741]
AlphaFold Q9DAA5
Predicted Effect probably damaging
Transcript: ENSMUST00000033906
AA Change: N27I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033906
Gene: ENSMUSG00000031509
AA Change: N27I

DomainStartEndE-ValueType
Pfam:SPACA7 19 122 4.7e-34 PFAM
low complexity region 144 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210502
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Chrdl2 A G 7: 99,671,229 (GRCm39) T116A probably damaging Het
Chst12 T C 5: 140,510,401 (GRCm39) F343L probably damaging Het
Cpeb2 T A 5: 43,392,578 (GRCm39) probably benign Het
Cyp27b1 A G 10: 126,886,957 (GRCm39) D391G probably benign Het
Dll3 T C 7: 28,001,082 (GRCm39) probably null Het
Dnah7b T A 1: 46,260,932 (GRCm39) I2030N probably damaging Het
Fap C T 2: 62,361,051 (GRCm39) probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Fzd7 T C 1: 59,523,566 (GRCm39) V483A probably damaging Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Gprc6a T C 10: 51,492,735 (GRCm39) H539R probably damaging Het
Irs1 C T 1: 82,265,685 (GRCm39) A844T probably benign Het
Myo1a T G 10: 127,549,950 (GRCm39) S477A probably benign Het
Naga C T 15: 82,221,095 (GRCm39) W67* probably null Het
Or51ah3 G C 7: 103,210,380 (GRCm39) R232T possibly damaging Het
Or51ah3 A T 7: 103,210,379 (GRCm39) R232* probably null Het
Osbpl1a T C 18: 12,952,652 (GRCm39) E87G probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rb1 G A 14: 73,500,135 (GRCm39) T504I probably damaging Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Slit2 T A 5: 48,460,125 (GRCm39) N1385K possibly damaging Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Trip11 A G 12: 101,853,198 (GRCm39) F465L probably benign Het
Usp31 G A 7: 121,306,152 (GRCm39) P109S possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r71 G T 7: 85,273,360 (GRCm39) D725Y probably damaging Het
Zfp459 T C 13: 67,561,307 (GRCm39) K47R probably damaging Het
Other mutations in Spaca7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Spaca7b APN 8 11,706,136 (GRCm39) missense probably benign 0.00
R0462:Spaca7b UTSW 8 11,711,749 (GRCm39) intron probably benign
R6541:Spaca7b UTSW 8 11,712,613 (GRCm39) missense probably benign 0.03
R6783:Spaca7b UTSW 8 11,705,661 (GRCm39) nonsense probably null
R6788:Spaca7b UTSW 8 11,728,584 (GRCm39) missense possibly damaging 0.85
R7844:Spaca7b UTSW 8 11,706,174 (GRCm39) missense probably benign 0.01
R7915:Spaca7b UTSW 8 11,728,645 (GRCm39) missense possibly damaging 0.53
R7942:Spaca7b UTSW 8 11,705,615 (GRCm39) missense unknown
R8158:Spaca7b UTSW 8 11,715,056 (GRCm39) missense probably damaging 0.99
R9667:Spaca7b UTSW 8 11,705,681 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGGCTCAGTTACCGTAAAGATC -3'
(R):5'- TGGCCCTACTCACAAGGAAAAG -3'

Sequencing Primer
(F):5'- ACATTGCCTGCCTGATTC -3'
(R):5'- CACTTCCTAGTGGTGATGTCACAG -3'
Posted On 2015-06-24