Incidental Mutation 'IGL03395:Spats2l'
ID 421230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spats2l
Ensembl Gene ENSMUSG00000038305
Gene Name spermatogenesis associated, serine-rich 2-like
Synonyms 2810022L02Rik, A230104H11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL03395
Quality Score
Status
Chromosome 1
Chromosomal Location 57813321-57987553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57977175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 318 (I318F)
Ref Sequence ENSEMBL: ENSMUSP00000127598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000163239
AA Change: I211F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: I211F

DomainStartEndE-ValueType
Pfam:DUF1387 1 261 9.7e-124 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164302
AA Change: I249F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: I249F

DomainStartEndE-ValueType
Pfam:DUF1387 59 149 3.6e-25 PFAM
Pfam:DUF1387 146 299 1.6e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164353
Predicted Effect probably damaging
Transcript: ENSMUST00000167085
AA Change: I338F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: I338F

DomainStartEndE-ValueType
Pfam:DUF1387 79 388 1.8e-130 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169772
AA Change: I318F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: I318F

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170139
AA Change: I318F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: I318F

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171699
AA Change: I269F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: I269F

DomainStartEndE-ValueType
Pfam:DUF1387 79 169 1.2e-25 PFAM
Pfam:DUF1387 167 270 2e-60 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,746 (GRCm39) D308G probably damaging Het
Adgrg3 A T 8: 95,761,701 (GRCm39) I155F probably damaging Het
Ado T C 10: 67,384,368 (GRCm39) Y79C probably benign Het
Aox1 T C 1: 58,107,884 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,734 (GRCm39) D165E probably damaging Het
Ccdc124 A C 8: 71,321,251 (GRCm39) M163R probably benign Het
Ceacam5 T C 7: 17,479,304 (GRCm39) probably benign Het
Cenpq A G 17: 41,234,449 (GRCm39) L247P probably damaging Het
Crat A G 2: 30,294,978 (GRCm39) V479A probably benign Het
Egfr T C 11: 16,860,261 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Emc9 C T 14: 55,822,197 (GRCm39) A72T probably benign Het
Fbxo5 G A 10: 5,751,935 (GRCm39) S226F probably benign Het
Gm42688 A C 6: 83,085,352 (GRCm39) E737D possibly damaging Het
Got1l1 G T 8: 27,690,885 (GRCm39) H54Q probably benign Het
Grid2 G A 6: 63,886,053 (GRCm39) V150I possibly damaging Het
Klc4 C T 17: 46,943,789 (GRCm39) V506M probably damaging Het
Lrrc8c A G 5: 105,754,495 (GRCm39) N90S probably benign Het
Lrrk2 T A 15: 91,681,617 (GRCm39) probably null Het
Mbd6 G A 10: 127,119,286 (GRCm39) R950C probably damaging Het
Nol11 A G 11: 107,066,548 (GRCm39) V414A probably benign Het
Or7e178 A T 9: 20,225,847 (GRCm39) M123K probably damaging Het
Pcnt T C 10: 76,272,325 (GRCm39) E177G possibly damaging Het
Pcnx2 G T 8: 126,614,262 (GRCm39) D396E probably benign Het
Pcyt2 A T 11: 120,503,876 (GRCm39) probably null Het
Pds5a T C 5: 65,809,792 (GRCm39) D390G possibly damaging Het
Pik3r2 T C 8: 71,224,999 (GRCm39) T155A probably benign Het
Rab31 T A 17: 66,003,362 (GRCm39) H95L probably benign Het
Rfx5 C T 3: 94,865,113 (GRCm39) R259* probably null Het
Slc6a17 T C 3: 107,384,622 (GRCm39) D285G probably damaging Het
Spef1l G T 7: 139,556,589 (GRCm39) probably benign Het
Tcf12 A G 9: 71,783,304 (GRCm39) S361P probably damaging Het
Other mutations in Spats2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Spats2l APN 1 57,982,231 (GRCm39) missense probably damaging 1.00
IGL00788:Spats2l APN 1 57,924,864 (GRCm39) missense probably damaging 1.00
IGL01627:Spats2l APN 1 57,941,241 (GRCm39) splice site probably benign
IGL01758:Spats2l APN 1 57,918,715 (GRCm39) missense probably damaging 1.00
P0033:Spats2l UTSW 1 57,924,997 (GRCm39) missense probably damaging 0.99
R0762:Spats2l UTSW 1 57,925,043 (GRCm39) missense possibly damaging 0.88
R1167:Spats2l UTSW 1 57,982,270 (GRCm39) missense probably damaging 1.00
R1486:Spats2l UTSW 1 57,939,970 (GRCm39) missense probably damaging 0.99
R1564:Spats2l UTSW 1 57,985,383 (GRCm39) missense probably damaging 1.00
R1938:Spats2l UTSW 1 57,924,941 (GRCm39) missense probably benign 0.32
R2071:Spats2l UTSW 1 57,979,623 (GRCm39) missense possibly damaging 0.90
R2096:Spats2l UTSW 1 57,985,458 (GRCm39) missense probably benign 0.00
R2215:Spats2l UTSW 1 57,985,575 (GRCm39) missense possibly damaging 0.82
R3053:Spats2l UTSW 1 57,939,925 (GRCm39) missense probably damaging 1.00
R3784:Spats2l UTSW 1 57,924,938 (GRCm39) missense probably damaging 0.99
R4814:Spats2l UTSW 1 57,977,085 (GRCm39) missense possibly damaging 0.83
R4915:Spats2l UTSW 1 57,941,347 (GRCm39) missense probably damaging 1.00
R4962:Spats2l UTSW 1 57,924,983 (GRCm39) missense possibly damaging 0.88
R5022:Spats2l UTSW 1 57,918,715 (GRCm39) missense probably damaging 1.00
R5068:Spats2l UTSW 1 57,982,380 (GRCm39) missense probably benign
R5561:Spats2l UTSW 1 57,939,780 (GRCm39) splice site probably null
R5773:Spats2l UTSW 1 57,918,708 (GRCm39) missense possibly damaging 0.86
R5885:Spats2l UTSW 1 57,985,321 (GRCm39) missense probably damaging 0.96
R6136:Spats2l UTSW 1 57,941,302 (GRCm39) missense probably damaging 1.00
R6651:Spats2l UTSW 1 57,985,336 (GRCm39) missense probably damaging 1.00
R6929:Spats2l UTSW 1 57,918,695 (GRCm39) missense probably damaging 1.00
R7030:Spats2l UTSW 1 57,918,689 (GRCm39) missense probably damaging 1.00
R7176:Spats2l UTSW 1 57,977,077 (GRCm39) missense possibly damaging 0.89
R7274:Spats2l UTSW 1 57,918,672 (GRCm39) nonsense probably null
R7342:Spats2l UTSW 1 57,925,106 (GRCm39) missense possibly damaging 0.91
R7387:Spats2l UTSW 1 57,941,293 (GRCm39) missense probably damaging 1.00
R7459:Spats2l UTSW 1 57,838,512 (GRCm39) splice site probably benign
R9239:Spats2l UTSW 1 57,871,257 (GRCm39) start gained probably benign
X0054:Spats2l UTSW 1 57,982,402 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02