Incidental Mutation 'R5770:Spata2l'
ID446497
Institutional Source Beutler Lab
Gene Symbol Spata2l
Ensembl Gene ENSMUSG00000033594
Gene Namespermatogenesis associated 2-like
Synonyms2610039E05Rik
MMRRC Submission 043370-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #R5770 (G1)
Quality Score221
Status Validated
Chromosome8
Chromosomal Location123229801-123236233 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123235720 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
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 damaging
Transcript: ENSMUST00000098327
AA Change: V34A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: V34A

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 damaging
Transcript: ENSMUST00000166768
AA Change: V34A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: V34A

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 probably benign
Transcript: ENSMUST00000212193
Predicted Effect probably benign
Transcript: ENSMUST00000212361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212532
Predicted Effect possibly damaging
Transcript: ENSMUST00000212818
AA Change: V34A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213005
Meta Mutation Damage Score 0.3639 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 93% (64/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030C10Rik T C 12: 20,815,459 noncoding transcript Het
Abhd8 A G 8: 71,457,328 V392A probably benign Het
AI481877 T C 4: 59,092,466 I238M probably benign Het
Alpk3 A G 7: 81,078,562 E480G probably benign Het
Ankfy1 C G 11: 72,760,256 H1011D probably damaging Het
Aoc3 T G 11: 101,331,752 Y271* probably null Het
Bcl9 T C 3: 97,215,175 I103V probably benign Het
Cgnl1 C T 9: 71,645,487 probably null Het
Cyp2c23 T A 19: 44,021,579 D109V probably damaging Het
Cyp2j13 A T 4: 96,077,432 W13R probably benign Het
D630003M21Rik T C 2: 158,195,580 probably benign Het
Desi2 A T 1: 178,256,495 probably benign Het
Dll3 T C 7: 28,299,009 E177G possibly damaging Het
Ern2 C T 7: 122,179,907 G238D possibly damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm6133 A G 18: 78,350,249 K153E probably benign Het
Gpr68 A T 12: 100,878,821 Y155N probably benign Het
Hcrtr2 T A 9: 76,259,666 I130F probably damaging Het
Hk1 T C 10: 62,286,449 K489R probably benign Het
Ints13 T C 6: 146,555,073 N425S probably damaging Het
Itpkc T C 7: 27,212,988 D578G probably damaging Het
Kcns3 A G 12: 11,092,249 S150P probably benign Het
Khdrbs3 T A 15: 69,049,463 probably null Het
Kif11 A G 19: 37,390,865 I335V probably benign Het
Lrrn4 C G 2: 132,872,156 C290S probably damaging Het
Macrod2 T C 2: 141,232,182 probably benign Het
Mgam A G 6: 40,669,804 N688S probably benign Het
Myh8 G A 11: 67,297,200 E933K probably damaging Het
Nat8f5 T C 6: 85,817,675 Y101C probably damaging Het
Nhlrc1 A G 13: 47,014,712 V23A probably benign Het
Nkx2-3 T A 19: 43,614,533 F193I probably damaging Het
Nlrp4b T A 7: 10,715,487 V172E probably benign Het
Nmrk1 G T 19: 18,645,074 R172S probably benign Het
Nudcd3 T C 11: 6,113,286 D201G probably damaging Het
Olfr1255 T A 2: 89,816,549 D68E probably damaging Het
Olfr1384 A G 11: 49,514,592 E318G unknown Het
Olfr205 A T 16: 59,329,151 Y119* probably null Het
Olfr314 G A 11: 58,786,594 R120H probably benign Het
Olfr46 A G 7: 140,610,943 Y259C probably damaging Het
Olfr679 A T 7: 105,090,895 I248N probably damaging Het
Olfr980 C T 9: 40,006,338 V204I probably benign Het
Oprm1 G A 10: 6,789,026 G51D probably damaging Het
Pcdh15 T A 10: 74,185,345 Y130* probably null Het
Pcdh9 G A 14: 93,886,943 T597I probably damaging Het
Pcdhb19 A G 18: 37,498,037 N295S possibly damaging Het
Pcnx3 T C 19: 5,681,579 probably benign Het
Pdzph1 A T 17: 58,879,151 I1215N probably damaging Het
Phf21a C T 2: 92,351,854 T405I possibly damaging Het
Pkd1l2 C A 8: 117,055,018 G763W probably damaging Het
Prox2 A G 12: 85,087,380 F591L probably benign Het
Robo3 T A 9: 37,419,201 H1033L possibly damaging Het
Sdha A T 13: 74,323,120 C222* probably null Het
Sec16a T C 2: 26,414,390 D2303G probably damaging Het
Slc16a5 A G 11: 115,472,778 K422E possibly damaging Het
Slc22a30 A T 19: 8,386,527 M232K probably damaging Het
Slc35b3 A T 13: 38,937,758 F300I probably damaging Het
Susd2 C T 10: 75,638,019 A581T probably damaging Het
Tecta T A 9: 42,345,589 Q1597L possibly damaging Het
Tgfb1i1 A T 7: 128,248,547 probably benign Het
Ticam1 TCACACA TCACA 17: 56,270,629 probably null Het
Tpm3-rs7 A G 14: 113,315,375 T234A probably benign Het
Usp20 A G 2: 31,017,508 Y684C probably damaging Het
Zc3h4 T A 7: 16,429,611 M585K unknown Het
Zfp292 A G 4: 34,806,747 I2099T probably damaging Het
Other mutations in Spata2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Spata2l APN 8 123233977 missense possibly damaging 0.79
IGL01764:Spata2l APN 8 123234175 missense probably benign 0.16
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
R6668:Spata2l UTSW 8 123233428 missense probably damaging 1.00
R6885:Spata2l UTSW 8 123235558 missense probably damaging 1.00
R8513:Spata2l UTSW 8 123233699 missense probably benign
Predicted Primers PCR Primer
(F):5'- AACTCCTTTCTCCAGGGCAG -3'
(R):5'- AGGTCCCTATTTCCAGGTTGG -3'

Sequencing Primer
(F):5'- TTTCTCCAGGGCAGCAGGTAC -3'
(R):5'- CCCTATTTCCAGGTTGGAGGGAG -3'
Posted On2016-11-21