Incidental Mutation 'IGL02145:Spata2l'
ID 281703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata2l
Ensembl Gene ENSMUSG00000033594
Gene Name spermatogenesis associated 2-like
Synonyms 2610039E05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02145
Quality Score
Status
Chromosome 8
Chromosomal Location 123958994-123962997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123960770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 173 (G173D)
Ref Sequence ENSEMBL: ENSMUSP00000130306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000098327] [ENSMUST00000127664] [ENSMUST00000166768] [ENSMUST00000212818] [ENSMUST00000213005] [ENSMUST00000212193] [ENSMUST00000212361]
AlphaFold Q8BNN1
Predicted Effect probably benign
Transcript: ENSMUST00000036880
SMART Domains Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862

DomainStartEndE-ValueType
S_TKc 39 323 1.52e-87 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098327
AA Change: G173D

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: G173D

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 possibly damaging
Transcript: ENSMUST00000166768
AA Change: G173D

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: G173D

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: ENSMUST00000212021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211876
Predicted Effect probably benign
Transcript: ENSMUST00000212818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212784
Predicted Effect probably benign
Transcript: ENSMUST00000213005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212904
Predicted Effect probably benign
Transcript: ENSMUST00000212193
Predicted Effect probably benign
Transcript: ENSMUST00000212361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212532
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 125,291,187 (GRCm39) L40P probably damaging Het
Ahnak T C 19: 8,980,219 (GRCm39) I501T probably benign Het
Aldh2 A G 5: 121,706,056 (GRCm39) *196Q probably null Het
Ankrd65 A G 4: 155,875,848 (GRCm39) D23G possibly damaging Het
Anln A T 9: 22,250,292 (GRCm39) probably null Het
Armc3 C T 2: 19,301,671 (GRCm39) S663L possibly damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Cul5 A T 9: 53,546,375 (GRCm39) probably benign Het
Cyba T C 8: 123,151,796 (GRCm39) I134V probably damaging Het
Cybb T A X: 9,323,257 (GRCm39) Q93H probably damaging Het
Cyp4f37 G T 17: 32,849,009 (GRCm39) K292N probably benign Het
Dmxl2 T C 9: 54,281,981 (GRCm39) I2850V probably benign Het
Ep300 T C 15: 81,485,367 (GRCm39) I118T unknown Het
Ercc6l G T X: 101,189,148 (GRCm39) P454T probably benign Het
Grxcr1 A G 5: 68,267,821 (GRCm39) E190G probably damaging Het
Heatr3 C T 8: 88,871,227 (GRCm39) R194C probably benign Het
Hspa12b C T 2: 130,985,655 (GRCm39) probably benign Het
Inpp5d T C 1: 87,642,777 (GRCm39) V644A probably damaging Het
Kif26a G A 12: 112,143,409 (GRCm39) R1221H probably benign Het
Klra8 T C 6: 130,102,199 (GRCm39) N79D probably benign Het
Kntc1 T C 5: 123,900,661 (GRCm39) I253T possibly damaging Het
Lamp5 T C 2: 135,901,509 (GRCm39) V111A possibly damaging Het
Lmo7 T C 14: 102,139,659 (GRCm39) S859P probably benign Het
Mgarp T C 3: 51,296,453 (GRCm39) Q205R possibly damaging Het
Morf4l1 A G 9: 89,975,848 (GRCm39) Y315H probably benign Het
Naip6 A T 13: 100,433,486 (GRCm39) V1117E possibly damaging Het
Nipal1 A G 5: 72,824,274 (GRCm39) D206G probably damaging Het
Notch3 A G 17: 32,373,715 (GRCm39) S498P probably benign Het
Npepps A G 11: 97,109,328 (GRCm39) probably null Het
Or14c46 C A 7: 85,918,466 (GRCm39) C177F probably damaging Het
Or2ak6 T C 11: 58,592,886 (GRCm39) Y120H probably damaging Het
Phlpp1 A G 1: 106,317,613 (GRCm39) H1278R probably damaging Het
Pprc1 C A 19: 46,053,329 (GRCm39) probably benign Het
Rab8b A T 9: 66,755,000 (GRCm39) probably benign Het
Ripor2 T A 13: 24,901,554 (GRCm39) I875N probably damaging Het
Samd9l T C 6: 3,374,105 (GRCm39) E1052G probably benign Het
Slit3 A T 11: 35,520,569 (GRCm39) I569F probably damaging Het
Stc2 T G 11: 31,317,875 (GRCm39) probably benign Het
Tm6sf1 C A 7: 81,513,000 (GRCm39) Y65* probably null Het
Tspan15 A G 10: 62,029,751 (GRCm39) probably benign Het
Vmn2r14 A T 5: 109,368,454 (GRCm39) Y179* probably null Het
Washc5 C A 15: 59,241,060 (GRCm39) V92L probably benign Het
Wiz A G 17: 32,575,893 (GRCm39) S838P probably benign Het
Zp2 T A 7: 119,739,074 (GRCm39) probably null Het
Other mutations in Spata2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Spata2l APN 8 123,960,716 (GRCm39) missense possibly damaging 0.79
IGL01764:Spata2l APN 8 123,960,914 (GRCm39) missense probably benign 0.16
IGL03145:Spata2l APN 8 123,960,075 (GRCm39) missense possibly damaging 0.73
R0333:Spata2l UTSW 8 123,960,371 (GRCm39) missense probably damaging 1.00
R1351:Spata2l UTSW 8 123,960,072 (GRCm39) missense probably damaging 1.00
R1647:Spata2l UTSW 8 123,960,041 (GRCm39) missense probably benign
R4420:Spata2l UTSW 8 123,960,768 (GRCm39) missense possibly damaging 0.80
R5161:Spata2l UTSW 8 123,962,288 (GRCm39) missense probably damaging 1.00
R5770:Spata2l UTSW 8 123,962,459 (GRCm39) missense probably damaging 0.98
R6668:Spata2l UTSW 8 123,960,167 (GRCm39) missense probably damaging 1.00
R6885:Spata2l UTSW 8 123,962,297 (GRCm39) missense probably damaging 1.00
R8513:Spata2l UTSW 8 123,960,438 (GRCm39) missense probably benign
R9310:Spata2l UTSW 8 123,960,873 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16