Incidental Mutation 'IGL01764:Spata2l'
ID153631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata2l
Ensembl Gene ENSMUSG00000033594
Gene Namespermatogenesis associated 2-like
Synonyms2610039E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01764
Quality Score
Status
Chromosome8
Chromosomal Location123229801-123236233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123234175 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 125 (Q125L)
Ref Sequence ENSEMBL: ENSMUSP00000130306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000098327] [ENSMUST00000127664] [ENSMUST00000166768] [ENSMUST00000212193] [ENSMUST00000212361] [ENSMUST00000212818] [ENSMUST00000213005]
Predicted Effect probably benign
Transcript: ENSMUST00000036880
SMART Domains Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862

DomainStartEndE-ValueType
S_TKc 39 323 1.52e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098327
AA Change: Q125L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: Q125L

DomainStartEndE-ValueType
low complexity region 74 91 N/A INTRINSIC
low complexity region 209 214 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
low complexity region 309 318 N/A INTRINSIC
low complexity region 340 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166768
AA Change: Q125L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: Q125L

DomainStartEndE-ValueType
low complexity region 74 91 N/A INTRINSIC
low complexity region 209 214 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
low complexity region 309 318 N/A INTRINSIC
low complexity region 340 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212021
Predicted Effect probably benign
Transcript: ENSMUST00000212193
Predicted Effect probably benign
Transcript: ENSMUST00000212361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212749
Predicted Effect probably benign
Transcript: ENSMUST00000212818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212904
Predicted Effect probably benign
Transcript: ENSMUST00000213005
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,074,046 M1L probably benign Het
BC025920 T A 10: 81,609,150 Y36N probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk11b G A 4: 155,628,803 R112H possibly damaging Het
Ctu2 G A 8: 122,479,422 probably benign Het
Ddx56 A C 11: 6,265,692 V219G probably null Het
Dnah14 T C 1: 181,744,777 V2891A probably benign Het
Fbn2 G T 18: 58,045,351 N1938K probably damaging Het
Fbxw20 A G 9: 109,223,359 M302T possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm10639 A T 9: 78,304,507 probably null Het
Gpat2 T C 2: 127,427,536 I36T probably benign Het
Hmcn2 A G 2: 31,405,630 E2617G possibly damaging Het
Krba1 C T 6: 48,415,836 R895W probably benign Het
Large2 G T 2: 92,367,186 probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Mapk1 T A 16: 16,983,733 M36K possibly damaging Het
Nf1 A G 11: 79,384,187 T25A probably benign Het
Nrxn3 G A 12: 90,204,750 V1316I possibly damaging Het
Pik3r4 G A 9: 105,685,122 probably benign Het
Plekhh1 G T 12: 79,054,905 A250S probably benign Het
Polr3g G A 13: 81,682,119 T145M possibly damaging Het
Prss32 A G 17: 23,856,111 D145G probably damaging Het
Rab11fip3 T C 17: 26,068,693 K162R probably benign Het
Spag7 A G 11: 70,664,107 probably benign Het
Tlr9 G T 9: 106,225,805 C765F probably damaging Het
Trip11 A T 12: 101,884,631 I773N probably damaging Het
Vcan T G 13: 89,725,388 T116P probably damaging Het
Vmn2r22 C T 6: 123,650,420 probably null Het
Yme1l1 T C 2: 23,162,544 I70T probably benign Het
Zfp938 T A 10: 82,227,790 probably benign Het
Other mutations in Spata2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Spata2l APN 8 123233977 missense possibly damaging 0.79
IGL02145:Spata2l APN 8 123234031 missense possibly damaging 0.83
IGL03145:Spata2l APN 8 123233336 missense possibly damaging 0.73
R0333:Spata2l UTSW 8 123233632 missense probably damaging 1.00
R1351:Spata2l UTSW 8 123233333 missense probably damaging 1.00
R1647:Spata2l UTSW 8 123233302 missense probably benign
R4420:Spata2l UTSW 8 123234029 missense possibly damaging 0.80
R5161:Spata2l UTSW 8 123235549 missense probably damaging 1.00
R5770:Spata2l UTSW 8 123235720 missense probably damaging 0.98
R6668:Spata2l UTSW 8 123233428 missense probably damaging 1.00
R6885:Spata2l UTSW 8 123235558 missense probably damaging 1.00
Posted On2014-02-04