Incidental Mutation 'R6541:Spaca7b'
ID 520766
Institutional Source Beutler Lab
Gene Symbol Spaca7b
Ensembl Gene ENSMUSG00000031509
Gene Name sperm acrosome associated 7B
Synonyms 1700016D06Rik, GC14
MMRRC Submission 044667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R6541 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 11705478-11728749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11712613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 79 (Q79L)
Ref Sequence ENSEMBL: ENSMUSP00000033906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033906] [ENSMUST00000190741]
AlphaFold Q9DAA5
Predicted Effect probably benign
Transcript: ENSMUST00000033906
AA Change: Q79L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033906
Gene: ENSMUSG00000031509
AA Change: Q79L

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: ENSMUST00000190787
Predicted Effect probably benign
Transcript: ENSMUST00000191350
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ass1 T C 2: 31,400,245 (GRCm39) V321A probably damaging Het
BC028528 T A 3: 95,795,530 (GRCm39) M91L probably benign Het
Bicra T C 7: 15,713,054 (GRCm39) T998A probably benign Het
Cdkl3 T G 11: 51,913,571 (GRCm39) L220R probably damaging Het
Cluh A G 11: 74,548,040 (GRCm39) D117G probably damaging Het
Cplane1 T C 15: 8,248,779 (GRCm39) V1776A possibly damaging Het
Crygf T C 1: 65,967,224 (GRCm39) F116S probably damaging Het
Ergic2 T A 6: 148,084,648 (GRCm39) Y20F probably damaging Het
Esf1 A G 2: 140,009,799 (GRCm39) V179A probably benign Het
Gm28360 T C 1: 117,758,047 (GRCm39) probably benign Het
Hhatl C T 9: 121,614,210 (GRCm39) V385I probably damaging Het
Iba57 A T 11: 59,049,689 (GRCm39) D219E possibly damaging Het
Il36b T A 2: 24,049,827 (GRCm39) V146D probably damaging Het
Itgal T A 7: 126,910,734 (GRCm39) V176E probably damaging Het
Kdm3a T C 6: 71,571,517 (GRCm39) M1060V possibly damaging Het
Kif18b T C 11: 102,805,092 (GRCm39) K351R probably damaging Het
Mroh9 A G 1: 162,885,607 (GRCm39) F342L possibly damaging Het
Ndufa11 T A 17: 57,024,867 (GRCm39) S10T probably benign Het
Or2bd2 A T 7: 6,443,492 (GRCm39) N198Y probably benign Het
Or5w19 T C 2: 87,698,638 (GRCm39) F101S probably benign Het
Or6b6 A T 7: 106,571,410 (GRCm39) F47Y probably benign Het
Or7h8 T A 9: 20,123,695 (GRCm39) F17I probably benign Het
Pacsin3 A G 2: 91,093,129 (GRCm39) E207G probably damaging Het
Pcsk1 T A 13: 75,274,103 (GRCm39) L136Q probably damaging Het
Prr18 G T 17: 8,560,168 (GRCm39) R108L possibly damaging Het
Rdh5 A G 10: 128,753,977 (GRCm39) V44A possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sh2d4b T C 14: 40,542,748 (GRCm39) T343A probably benign Het
Slc16a10 T C 10: 39,913,268 (GRCm39) N480S probably benign Het
Sval3 A T 6: 41,949,380 (GRCm39) N73Y probably damaging Het
Taar7d T C 10: 23,904,129 (GRCm39) I337T probably benign Het
Ttn T A 2: 76,577,039 (GRCm39) Q24618L possibly damaging Het
Ugt1a9 T A 1: 87,999,318 (GRCm39) V256E probably damaging Het
Vmn2r108 T A 17: 20,701,480 (GRCm39) I7F probably benign Het
Vmn2r55 A G 7: 12,404,939 (GRCm39) S155P probably damaging Het
Vwa3b T A 1: 37,090,842 (GRCm39) V169E 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
R4306:Spaca7b UTSW 8 11,728,590 (GRCm39) missense probably damaging 0.98
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'- ATCTCAGGAAGGCTGTAACAGTG -3'
(R):5'- GGCCACTGTCCAGAAGTTAC -3'

Sequencing Primer
(F):5'- AAGGCTGTAACAGTGGCCTC -3'
(R):5'- TTCTAATCATGGTATTGACAGGCCAC -3'
Posted On 2018-06-06