Incidental Mutation 'R6136:Spats2l'
ID 488327
Institutional Source Beutler Lab
Gene Symbol Spats2l
Ensembl Gene ENSMUSG00000038305
Gene Name spermatogenesis associated, serine-rich 2-like
Synonyms 2810022L02Rik, A230104H11Rik
MMRRC Submission 044283-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6136 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 57813321-57987553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57941302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 187 (T187M)
Ref Sequence ENSEMBL: ENSMUSP00000128239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000163239
AA Change: T129M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305
AA Change: T129M

DomainStartEndE-ValueType
Pfam:DUF1387 1 261 9.7e-124 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164302
AA Change: T167M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: T167M

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: T256M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: T256M

DomainStartEndE-ValueType
Pfam:DUF1387 79 388 1.8e-130 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169772
AA Change: T236M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: T236M

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170139
AA Change: T236M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: T236M

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171699
AA Change: T187M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: T187M

DomainStartEndE-ValueType
Pfam:DUF1387 79 169 1.2e-25 PFAM
Pfam:DUF1387 167 270 2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172068
SMART Domains Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305

DomainStartEndE-ValueType
Pfam:DUF1387 79 244 5e-43 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,181 (GRCm39) G124C unknown Het
3425401B19Rik A T 14: 32,384,239 (GRCm39) D575E possibly damaging Het
Abca15 A T 7: 119,939,272 (GRCm39) H222L possibly damaging Het
Arhgef18 T C 8: 3,504,507 (GRCm39) V1013A probably benign Het
Arsj T C 3: 126,158,424 (GRCm39) M1T probably null Het
Atp10a A C 7: 58,478,088 (GRCm39) Q1377P probably benign Het
Atrip T A 9: 108,900,804 (GRCm39) E178D probably damaging Het
Cblif G A 19: 11,727,649 (GRCm39) A158T probably damaging Het
Chadl T C 15: 81,577,755 (GRCm39) N625D probably benign Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Cox11 T C 11: 90,535,221 (GRCm39) L84P probably damaging Het
Dchs1 T G 7: 105,410,132 (GRCm39) T1747P probably benign Het
Dnah12 A G 14: 26,597,227 (GRCm39) K3529E probably damaging Het
Ecd T C 14: 20,370,859 (GRCm39) N620S probably damaging Het
Fbn1 T A 2: 125,245,052 (GRCm39) K278N possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fzd7 T G 1: 59,522,419 (GRCm39) F101V probably damaging Het
Galnt13 G T 2: 54,406,491 (GRCm39) probably benign Het
Gm32647 C T 7: 94,124,939 (GRCm39) Het
Gm5624 A T 14: 44,797,333 (GRCm39) D152E probably benign Het
Heatr6 T A 11: 83,663,329 (GRCm39) V664E possibly damaging Het
Hpgd A G 8: 56,747,987 (GRCm39) D36G probably damaging Het
Ifnlr1 A G 4: 135,431,108 (GRCm39) T199A possibly damaging Het
Kalrn T G 16: 34,177,481 (GRCm39) D228A probably damaging Het
Miox T C 15: 89,219,524 (GRCm39) M47T probably damaging Het
Nampt A T 12: 32,880,301 (GRCm39) I65F probably benign Het
Ncf1 T C 5: 134,255,487 (GRCm39) K135E probably damaging Het
Nop53 G A 7: 15,672,314 (GRCm39) Q452* probably null Het
Or8u10 A G 2: 85,915,245 (GRCm39) L292S probably damaging Het
Pik3cg A G 12: 32,254,358 (GRCm39) V543A probably benign Het
Ralgds T C 2: 28,440,577 (GRCm39) probably null Het
Rap1a A G 3: 105,657,598 (GRCm39) V7A probably damaging Het
Rasal1 T C 5: 120,813,543 (GRCm39) V639A possibly damaging Het
Rassf8 A G 6: 145,761,382 (GRCm39) N236S probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sbno1 T C 5: 124,516,554 (GRCm39) D1272G probably benign Het
Setx A G 2: 29,038,039 (GRCm39) D1508G probably benign Het
Slc1a1 T A 19: 28,882,810 (GRCm39) L358Q probably damaging Het
Slc7a12 C A 3: 14,564,186 (GRCm39) L20I probably benign Het
Spata31g1 T C 4: 42,972,853 (GRCm39) S729P probably damaging Het
Specc1l A G 10: 75,082,494 (GRCm39) D647G probably benign Het
Steap4 G A 5: 8,028,562 (GRCm39) R380Q probably damaging Het
Syne2 A G 12: 75,952,099 (GRCm39) S456G probably benign Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tns2 T A 15: 102,015,465 (GRCm39) D122E probably damaging Het
Tshr A G 12: 91,505,008 (GRCm39) M649V probably benign Het
Ubr3 A G 2: 69,824,107 (GRCm39) T1440A probably benign Het
Urb2 A G 8: 124,756,831 (GRCm39) D846G probably benign Het
Vmn1r202 T C 13: 22,685,632 (GRCm39) T262A possibly damaging Het
Vmn2r61 G T 7: 41,916,455 (GRCm39) W356L probably damaging Het
Wdr11 T A 7: 129,220,427 (GRCm39) M605K possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
IGL03395:Spats2l APN 1 57,977,175 (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
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
Predicted Primers PCR Primer
(F):5'- GGCGGTCTAAACAACCCATC -3'
(R):5'- CTGCCTGCAGAACTTTACAAAAG -3'

Sequencing Primer
(F):5'- ACCCATCCCCTCTTAACAGTG -3'
(R):5'- GAGAGAGATCACTGCTCTGTG -3'
Posted On 2017-10-10