Incidental Mutation 'R6885:Spata2l'
ID 536794
Institutional Source Beutler Lab
Gene Symbol Spata2l
Ensembl Gene ENSMUSG00000033594
Gene Name spermatogenesis associated 2-like
Synonyms 2610039E05Rik
MMRRC Submission 045031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6885 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 123958994-123962997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123962297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 88 (L88Q)
Ref Sequence ENSEMBL: ENSMUSP00000148755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000098327] [ENSMUST00000127664] [ENSMUST00000166768] [ENSMUST00000212193] [ENSMUST00000212361] [ENSMUST00000212818] [ENSMUST00000213005]
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 probably damaging
Transcript: ENSMUST00000098327
AA Change: L88Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594
AA Change: L88Q

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: L88Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594
AA Change: L88Q

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: ENSMUST00000212193
Predicted Effect probably benign
Transcript: ENSMUST00000212361
Predicted Effect probably damaging
Transcript: ENSMUST00000212818
AA Change: L88Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213005
Meta Mutation Damage Score 0.8703 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,119,332 (GRCm39) I1025M probably benign Het
Adamtsl5 T A 10: 80,179,465 (GRCm39) T164S probably benign Het
Ankar C T 1: 72,682,195 (GRCm39) A1239T unknown Het
Aox4 A T 1: 58,303,537 (GRCm39) S1192C probably damaging Het
Atl2 T C 17: 80,159,982 (GRCm39) D68G probably damaging Het
Btnl4 T C 17: 34,691,919 (GRCm39) I228V probably benign Het
Catsper4 T C 4: 133,942,460 (GRCm39) T231A probably benign Het
Ccl12 A T 11: 81,993,523 (GRCm39) T54S probably damaging Het
Cntn1 T C 15: 92,140,980 (GRCm39) probably null Het
Cog5 T A 12: 31,944,198 (GRCm39) D694E probably damaging Het
Crat T A 2: 30,305,208 (GRCm39) probably benign Het
Crot T C 5: 9,023,635 (GRCm39) T418A probably benign Het
Cubn G A 2: 13,323,089 (GRCm39) P2826L probably damaging Het
Dnah17 A G 11: 117,981,598 (GRCm39) F1698L possibly damaging Het
Dock8 T A 19: 25,124,742 (GRCm39) D1019E possibly damaging Het
Eps15 A G 4: 109,166,361 (GRCm39) N85D probably damaging Het
Exoc1 T C 5: 76,706,889 (GRCm39) S457P probably damaging Het
Ext1 G A 15: 52,965,088 (GRCm39) T426I probably damaging Het
Fat1 T C 8: 45,405,489 (GRCm39) S747P possibly damaging Het
Gas7 A G 11: 67,574,213 (GRCm39) D396G probably damaging Het
Gm5114 G T 7: 39,057,580 (GRCm39) R680S probably benign Het
Gpcpd1 A T 2: 132,395,994 (GRCm39) L94M possibly damaging Het
Gse1 C A 8: 120,956,221 (GRCm39) probably benign Het
Hmgb1 T C 5: 148,987,471 (GRCm39) E26G probably benign Het
Incenp C T 19: 9,852,496 (GRCm39) R714Q unknown Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Ksr1 A G 11: 78,938,121 (GRCm39) probably null Het
Lpin2 T G 17: 71,522,145 (GRCm39) S60A probably damaging Het
Lrrc71 T C 3: 87,649,927 (GRCm39) probably null Het
Mafb A G 2: 160,207,939 (GRCm39) S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,605,000 (GRCm39) Het
Mcmbp T C 7: 128,326,833 (GRCm39) probably null Het
Or1e30 A T 11: 73,677,926 (GRCm39) H54L possibly damaging Het
Or4s2 A G 2: 88,473,941 (GRCm39) T277A probably damaging Het
Paqr9 T C 9: 95,442,096 (GRCm39) S29P probably benign Het
Parm1 A G 5: 91,742,069 (GRCm39) T146A possibly damaging Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pigv A T 4: 133,392,792 (GRCm39) F126Y probably damaging Het
Pitx2 T C 3: 129,012,257 (GRCm39) M222T probably damaging Het
Plekhg6 T C 6: 125,355,693 (GRCm39) N37S probably benign Het
Pramel25 T C 4: 143,520,103 (GRCm39) C116R probably damaging Het
Psme4 A T 11: 30,784,307 (GRCm39) K961* probably null Het
Rbpj T C 5: 53,810,493 (GRCm39) W392R probably damaging Het
Reg3a T A 6: 78,358,038 (GRCm39) probably null Het
Rfc3 C T 5: 151,571,749 (GRCm39) S85N probably benign Het
Rtn3 T C 19: 7,435,696 (GRCm39) T80A probably benign Het
Sash1 T C 10: 8,659,985 (GRCm39) T195A probably damaging Het
Ska1 A G 18: 74,339,910 (GRCm39) V12A probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc26a5 A T 5: 22,039,342 (GRCm39) V217D probably damaging Het
Slc46a1 A G 11: 78,357,805 (GRCm39) D286G probably benign Het
Sptbn1 T G 11: 30,088,634 (GRCm39) Q876P probably benign Het
Tenm2 T A 11: 35,914,407 (GRCm39) I2377F possibly damaging Het
Thbs4 A T 13: 92,899,377 (GRCm39) D539E probably damaging Het
Tmem154 T A 3: 84,599,813 (GRCm39) C162S possibly damaging Het
Tpcn1 T C 5: 120,682,502 (GRCm39) E502G probably benign Het
Traf7 G A 17: 24,731,266 (GRCm39) R257C probably benign Het
Tsc22d2 T C 3: 58,323,629 (GRCm39) Y174H probably damaging Het
Usp8 A G 2: 126,594,230 (GRCm39) E802G probably damaging Het
Vmn1r5 T C 6: 56,963,042 (GRCm39) V239A possibly damaging Het
Vmn2r99 T A 17: 19,600,457 (GRCm39) S494T possibly damaging Het
Zbtb38 A G 9: 96,568,517 (GRCm39) F856L probably damaging 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
IGL02145:Spata2l APN 8 123,960,770 (GRCm39) missense possibly damaging 0.83
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
R8513:Spata2l UTSW 8 123,960,438 (GRCm39) missense probably benign
R9310:Spata2l UTSW 8 123,960,873 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AGTTCTAGGTGAATGACTGGTAGGC -3'
(R):5'- TCACTGTCCGAGGACTATCG -3'

Sequencing Primer
(F):5'- ATGACTGGTAGGCATGCATCC -3'
(R):5'- TCCGAGGACTATCGCCAGTG -3'
Posted On 2018-10-18