Incidental Mutation 'R5773:Spats2l'
ID 445480
Institutional Source Beutler Lab
Gene Symbol Spats2l
Ensembl Gene ENSMUSG00000038305
Gene Name spermatogenesis associated, serine-rich 2-like
Synonyms 2810022L02Rik, A230104H11Rik
MMRRC Submission 043372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5773 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 57813321-57987553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57918708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 27 (N27K)
Ref Sequence ENSEMBL: ENSMUSP00000127598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163239] [ENSMUST00000164302] [ENSMUST00000167085] [ENSMUST00000167971] [ENSMUST00000169772] [ENSMUST00000170139] [ENSMUST00000171699] [ENSMUST00000172068] [ENSMUST00000172287]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000163239
SMART Domains Protein: ENSMUSP00000128992
Gene: ENSMUSG00000038305

DomainStartEndE-ValueType
Pfam:DUF1387 1 261 9.7e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164302
AA Change: N27K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: N27K

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: N47K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF1387 79 388 1.8e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167971
AA Change: N47K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF1387 79 130 4.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168905
Predicted Effect possibly damaging
Transcript: ENSMUST00000169772
AA Change: N27K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: N27K

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170139
AA Change: N27K

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: N27K

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171699
AA Change: N47K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF1387 79 169 1.2e-25 PFAM
Pfam:DUF1387 167 270 2e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172068
AA Change: N47K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF1387 79 244 5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172287
AA Change: N47K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305
AA Change: N47K

DomainStartEndE-ValueType
low complexity region 84 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,416,614 (GRCm39) probably null Het
Akna C T 4: 63,313,307 (GRCm39) S272N probably benign Het
Ap2m1 T C 16: 20,362,140 (GRCm39) V416A probably damaging Het
Atp7b A G 8: 22,517,879 (GRCm39) F320L probably benign Het
Brd1 T C 15: 88,573,752 (GRCm39) K1116E probably benign Het
Ccdc186 T C 19: 56,801,919 (GRCm39) D66G probably benign Het
Cdh4 A G 2: 179,527,789 (GRCm39) Y503C probably damaging Het
Cfb C A 17: 35,076,248 (GRCm39) E166* probably null Het
Cmtm1 A T 8: 105,031,808 (GRCm39) F90I probably damaging Het
Col1a1 A T 11: 94,830,255 (GRCm39) K160N probably benign Het
Cradd T C 10: 95,011,823 (GRCm39) I106V probably benign Het
Defa17 A G 8: 22,146,574 (GRCm39) R67G probably damaging Het
Dgkh T C 14: 78,832,895 (GRCm39) N765S probably damaging Het
Dock5 A G 14: 68,033,507 (GRCm39) V954A possibly damaging Het
Eif2d A G 1: 131,086,040 (GRCm39) probably null Het
Epg5 T A 18: 78,004,040 (GRCm39) F683I probably damaging Het
Fhad1 T G 4: 141,656,881 (GRCm39) K91T probably damaging Het
Fut11 A T 14: 20,748,383 (GRCm39) D476V probably damaging Het
Gldn T C 9: 54,241,775 (GRCm39) probably null Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gm8674 T A 13: 50,055,912 (GRCm39) noncoding transcript Het
Gtpbp6 C A 5: 110,254,757 (GRCm39) E168D possibly damaging Het
Hinfp T A 9: 44,210,533 (GRCm39) H163L probably benign Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Ing3 T A 6: 21,971,834 (GRCm39) C368S probably damaging Het
Itih1 A G 14: 30,657,356 (GRCm39) V489A possibly damaging Het
Itsn2 T C 12: 4,757,089 (GRCm39) L1393P probably damaging Het
Kcnj13 T C 1: 87,314,389 (GRCm39) T278A probably damaging Het
Kntc1 G A 5: 123,932,220 (GRCm39) R1338Q probably damaging Het
Lipi T A 16: 75,370,813 (GRCm39) T135S probably damaging Het
Map7 A G 10: 20,122,390 (GRCm39) K152R probably benign Het
Mmp24 A G 2: 155,641,829 (GRCm39) Y219C probably damaging Het
Nup188 T C 2: 30,212,208 (GRCm39) V565A possibly damaging Het
Nup210 T C 6: 91,062,865 (GRCm39) K265E probably damaging Het
Or10ak9 A G 4: 118,726,718 (GRCm39) T247A probably damaging Het
Pcdha6 A T 18: 37,102,643 (GRCm39) H612L probably benign Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pld2 G T 11: 70,446,758 (GRCm39) S778I probably damaging Het
Ppef2 A C 5: 92,398,420 (GRCm39) Y33D probably damaging Het
Ppfibp2 A T 7: 107,285,079 (GRCm39) T129S possibly damaging Het
Prickle1 G T 15: 93,406,478 (GRCm39) H182N probably damaging Het
R3hdm2 T A 10: 127,280,172 (GRCm39) probably benign Het
Rbm12b1 A T 4: 12,145,765 (GRCm39) E579V probably damaging Het
Rsf1 GGC GGCGGCGGCTGC 7: 97,229,140 (GRCm39) probably benign Het
Slc1a6 T G 10: 78,629,111 (GRCm39) probably null Het
Slc27a6 G T 18: 58,715,245 (GRCm39) A283S probably damaging Het
Srgap1 T C 10: 121,732,614 (GRCm39) M155V probably benign Het
Stxbp5l C A 16: 37,028,459 (GRCm39) A535S probably damaging Het
Svep1 C A 4: 58,099,985 (GRCm39) C1353F possibly damaging Het
Taar4 T A 10: 23,837,056 (GRCm39) I222N probably damaging Het
Tlr6 A G 5: 65,111,846 (GRCm39) F354L probably benign Het
Trp53bp1 A G 2: 121,074,395 (GRCm39) S452P probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Usp42 A T 5: 143,699,467 (GRCm39) M1264K probably benign Het
Zfp865 A T 7: 5,037,693 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,334,511 (GRCm39) L169Q probably damaging Het
Zmym4 A T 4: 126,799,163 (GRCm39) N383K possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGATAGATGGGTTAGCTTTCCCG -3'
(R):5'- GTCCATGTTCTTTTGAAGTCCG -3'

Sequencing Primer
(F):5'- GGGCCTTCCTAAGTTATAATTCTGC -3'
(R):5'- GTCCTTGAACTCACAGAATTCGG -3'
Posted On 2016-11-21