Incidental Mutation 'IGL01546:Spaca7b'
ID 90348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spaca7b
Ensembl Gene ENSMUSG00000031509
Gene Name sperm acrosome associated 7B
Synonyms 1700016D06Rik, GC14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # IGL01546
Quality Score
Status
Chromosome 8
Chromosomal Location 11705478-11728749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11706136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 133 (M133L)
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: M133L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033906
Gene: ENSMUSG00000031509
AA Change: M133L

DomainStartEndE-ValueType
Pfam:SPACA7 19 122 4.7e-34 PFAM
low complexity region 144 160 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000190741
AA Change: M1L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190787
Predicted Effect unknown
Transcript: ENSMUST00000191350
AA Change: M23L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 C A 17: 24,382,574 (GRCm39) R22L probably benign Het
Arg2 T C 12: 79,196,633 (GRCm39) probably benign Het
Catip T C 1: 74,401,954 (GRCm39) L43P probably damaging Het
Ccdc30 A C 4: 119,255,385 (GRCm39) L123R probably damaging Het
Cep89 T C 7: 35,120,325 (GRCm39) L369P probably damaging Het
Dolpp1 T C 2: 30,287,107 (GRCm39) F180L probably damaging Het
Kctd19 T C 8: 106,113,594 (GRCm39) H670R probably benign Het
Kntc1 T A 5: 123,903,068 (GRCm39) I315N probably benign Het
Mfsd4b2 A T 10: 39,797,471 (GRCm39) W295R probably damaging Het
Mgam A G 6: 40,631,627 (GRCm39) T116A probably damaging Het
Mn1 A T 5: 111,569,114 (GRCm39) D1028V probably damaging Het
Or1e17 G A 11: 73,832,020 (GRCm39) G316D probably benign Het
Or2ag1b A G 7: 106,288,738 (GRCm39) S67P probably damaging Het
Or52b1 T C 7: 104,978,899 (GRCm39) R167G probably damaging Het
Or52j3 A T 7: 102,836,617 (GRCm39) I270F probably damaging Het
Or7a40 A G 16: 16,491,129 (GRCm39) S239P probably damaging Het
Or7g27 T G 9: 19,250,068 (GRCm39) V104G possibly damaging Het
Phc3 C A 3: 31,015,888 (GRCm39) A108S probably damaging Het
Pkhd1l1 A G 15: 44,429,712 (GRCm39) Y3310C probably damaging Het
Ppp4r3b T C 11: 29,159,488 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,119 (GRCm39) T159A probably benign Het
Sos1 T A 17: 80,716,040 (GRCm39) Y974F probably damaging Het
Taar8a A T 10: 23,952,813 (GRCm39) Y139F possibly damaging Het
Vcam1 A G 3: 115,909,591 (GRCm39) C579R possibly damaging Het
Zdhhc17 C T 10: 110,782,054 (GRCm39) V547M probably damaging Het
Other mutations in Spaca7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0462:Spaca7b UTSW 8 11,711,749 (GRCm39) intron probably benign
R4306:Spaca7b UTSW 8 11,728,590 (GRCm39) missense probably damaging 0.98
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
Posted On 2013-12-03