Incidental Mutation 'P0033:Spats2l'
ID7832
Institutional Source Beutler Lab
Gene Symbol Spats2l
Ensembl Gene ENSMUSG00000038305
Gene Namespermatogenesis associated, serine-rich 2-like
SynonymsA230104H11Rik, 2810022L02Rik
MMRRC Submission 038284-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #P0033 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location57774162-57948394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 57885838 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 132 (E132K)
Ref Sequence ENSEMBL: ENSMUSP00000126166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000167971] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068] [ENSMUST00000172287]
Predicted Effect possibly damaging
Transcript: ENSMUST00000163239
AA Change: E5K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: E5K

DomainStartEndE-ValueType
Pfam:DUF1387 1 261 9.7e-124 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164302
AA Change: E112K

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: E112K

DomainStartEndE-ValueType
Pfam:DUF1387 59 149 3.6e-25 PFAM
Pfam:DUF1387 146 299 1.6e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167085
AA Change: E132K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: E132K

DomainStartEndE-ValueType
Pfam:DUF1387 79 388 1.8e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167971
SMART Domains Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305

DomainStartEndE-ValueType
Pfam:DUF1387 79 130 4.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169772
AA Change: E112K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: E112K

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170139
AA Change: E112K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: E112K

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171699
AA Change: E132K

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: E132K

DomainStartEndE-ValueType
Pfam:DUF1387 79 169 1.2e-25 PFAM
Pfam:DUF1387 167 270 2e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172068
AA Change: E132K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: E132K

DomainStartEndE-ValueType
Pfam:DUF1387 79 244 5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172287
SMART Domains Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305

DomainStartEndE-ValueType
low complexity region 84 96 N/A INTRINSIC
Meta Mutation Damage Score 0.1807 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 72.9%
  • 10x: 47.1%
  • 20x: 23.7%
Validation Efficiency 86% (108/125)
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Depdc1a T C 3: 159,516,141 S241P probably damaging Het
Dusp19 T A 2: 80,617,385 M1K probably null Het
Egfem1 G C 3: 29,690,191 Q526H probably damaging Het
Gm10856 C A 15: 79,845,822 noncoding transcript Het
Gm5901 A G 7: 105,377,505 Y160C probably damaging Het
Hmg20a A G 9: 56,489,824 S303G probably benign Het
Lmbrd1 A G 1: 24,685,565 T77A possibly damaging Het
Map3k5 C T 10: 20,132,213 probably benign Het
Ncapg2 G A 12: 116,438,635 V696I probably benign Het
Orm3 A T 4: 63,356,302 T35S probably damaging Het
Pdgfra A G 5: 75,192,561 E1004G probably damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Ppip5k2 A G 1: 97,717,528 V1067A probably damaging Het
Ptprd T A 4: 76,128,854 R392* probably null Het
Rad54b T A 4: 11,609,285 probably benign Het
Rapgef4 T C 2: 72,137,331 probably benign Het
Rasef T C 4: 73,749,852 N134S probably benign Het
Sfswap C T 5: 129,539,755 P421L possibly damaging Het
Sorcs1 T A 19: 50,152,907 I1129F probably damaging Het
Tet3 A G 6: 83,368,512 S1648P probably damaging Het
Ttc16 T A 2: 32,762,574 T691S probably benign Het
Usp38 C T 8: 80,981,896 D1018N probably benign Het
Zcchc14 A C 8: 121,610,159 probably benign Het
Other mutations in Spats2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Spats2l APN 1 57943072 missense probably damaging 1.00
IGL00788:Spats2l APN 1 57885705 missense probably damaging 1.00
IGL01627:Spats2l APN 1 57902082 splice site probably benign
IGL01758:Spats2l APN 1 57879556 missense probably damaging 1.00
IGL03395:Spats2l APN 1 57938016 missense probably damaging 1.00
R0762:Spats2l UTSW 1 57885884 missense possibly damaging 0.88
R1167:Spats2l UTSW 1 57943111 missense probably damaging 1.00
R1486:Spats2l UTSW 1 57900811 missense probably damaging 0.99
R1564:Spats2l UTSW 1 57946224 missense probably damaging 1.00
R1938:Spats2l UTSW 1 57885782 missense probably benign 0.32
R2071:Spats2l UTSW 1 57940464 missense possibly damaging 0.90
R2096:Spats2l UTSW 1 57946299 missense probably benign 0.00
R2215:Spats2l UTSW 1 57946416 missense possibly damaging 0.82
R3053:Spats2l UTSW 1 57900766 missense probably damaging 1.00
R3784:Spats2l UTSW 1 57885779 missense probably damaging 0.99
R4814:Spats2l UTSW 1 57937926 missense possibly damaging 0.83
R4915:Spats2l UTSW 1 57902188 missense probably damaging 1.00
R4962:Spats2l UTSW 1 57885824 missense possibly damaging 0.88
R5022:Spats2l UTSW 1 57879556 missense probably damaging 1.00
R5068:Spats2l UTSW 1 57943221 missense probably benign
R5561:Spats2l UTSW 1 57900621 splice site probably null
R5773:Spats2l UTSW 1 57879549 missense possibly damaging 0.86
R5885:Spats2l UTSW 1 57946162 missense probably damaging 0.96
R6136:Spats2l UTSW 1 57902143 missense probably damaging 1.00
R6651:Spats2l UTSW 1 57946177 missense probably damaging 1.00
R6929:Spats2l UTSW 1 57879536 missense probably damaging 1.00
R7030:Spats2l UTSW 1 57879530 missense probably damaging 1.00
R7176:Spats2l UTSW 1 57937918 missense possibly damaging 0.89
R7274:Spats2l UTSW 1 57879513 nonsense probably null
R7342:Spats2l UTSW 1 57885947 missense possibly damaging 0.91
R7387:Spats2l UTSW 1 57902134 missense probably damaging 1.00
R7459:Spats2l UTSW 1 57799353 splice site probably benign
X0054:Spats2l UTSW 1 57943243 critical splice donor site probably null
Posted On2012-10-29