Incidental Mutation 'R7274:Spats2l'
ID 565429
Institutional Source Beutler Lab
Gene Symbol Spats2l
Ensembl Gene ENSMUSG00000038305
Gene Name spermatogenesis associated, serine-rich 2-like
Synonyms 2810022L02Rik, A230104H11Rik
MMRRC Submission 067851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7274 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 57813321-57987553 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 57918672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 35 (Y35*)
Ref Sequence ENSEMBL: ENSMUSP00000133054 (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 null
Transcript: ENSMUST00000164302
AA Change: Y15*
SMART Domains Protein: ENSMUSP00000132592
Gene: ENSMUSG00000038305
AA Change: Y15*

DomainStartEndE-ValueType
Pfam:DUF1387 59 149 3.6e-25 PFAM
Pfam:DUF1387 146 299 1.6e-93 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167085
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000133054
Gene: ENSMUSG00000038305
AA Change: Y35*

DomainStartEndE-ValueType
Pfam:DUF1387 79 388 1.8e-130 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167971
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000128764
Gene: ENSMUSG00000038305
AA Change: Y35*

DomainStartEndE-ValueType
Pfam:DUF1387 79 130 4.2e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169772
AA Change: Y15*
SMART Domains Protein: ENSMUSP00000132975
Gene: ENSMUSG00000038305
AA Change: Y15*

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170139
AA Change: Y15*
SMART Domains Protein: ENSMUSP00000127598
Gene: ENSMUSG00000038305
AA Change: Y15*

DomainStartEndE-ValueType
Pfam:DUF1387 59 368 5.6e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171699
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000128239
Gene: ENSMUSG00000038305
AA Change: Y35*

DomainStartEndE-ValueType
Pfam:DUF1387 79 169 1.2e-25 PFAM
Pfam:DUF1387 167 270 2e-60 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172068
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000126166
Gene: ENSMUSG00000038305
AA Change: Y35*

DomainStartEndE-ValueType
Pfam:DUF1387 79 244 5e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172287
AA Change: Y35*
SMART Domains Protein: ENSMUSP00000131125
Gene: ENSMUSG00000038305
AA Change: Y35*

DomainStartEndE-ValueType
low complexity region 84 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik T C 8: 121,338,005 (GRCm39) S69G possibly damaging Het
Alg12 G A 15: 88,690,910 (GRCm39) S337F probably damaging Het
Bcl11a T C 11: 24,113,985 (GRCm39) S443P probably damaging Het
C1qtnf4 T C 2: 90,719,885 (GRCm39) Y53H probably damaging Het
Cacna1d T A 14: 29,864,600 (GRCm39) E454V probably damaging Het
Cacna1h A G 17: 25,597,811 (GRCm39) F1761S probably damaging Het
Cacna1i A T 15: 80,261,023 (GRCm39) I1344F possibly damaging Het
Cat T C 2: 103,307,235 (GRCm39) N33D probably benign Het
Cdh17 C T 4: 11,783,174 (GRCm39) Q172* probably null Het
Chrna2 A G 14: 66,386,675 (GRCm39) I274V probably benign Het
Cog2 T G 8: 125,262,258 (GRCm39) S299A possibly damaging Het
Cpa6 C A 1: 10,479,524 (GRCm39) M236I probably damaging Het
Crym T A 7: 119,789,742 (GRCm39) Q242L probably benign Het
Ddx60 T C 8: 62,393,142 (GRCm39) probably null Het
Eif4a3l1 A G 6: 136,306,396 (GRCm39) T286A possibly damaging Het
Epdr1 A T 13: 19,777,458 (GRCm39) I180N possibly damaging Het
Fancd2os G A 6: 113,574,851 (GRCm39) L52F probably benign Het
Fbxo16 C A 14: 65,558,716 (GRCm39) R292S probably benign Het
Fn1 T C 1: 71,667,272 (GRCm39) Q820R probably benign Het
Gm4131 T A 14: 62,704,301 (GRCm39) Y140F possibly damaging Het
Grin2a T C 16: 9,396,986 (GRCm39) R1034G possibly damaging Het
Hypk A G 2: 121,284,805 (GRCm39) probably benign Het
Ighmbp2 A G 19: 3,314,951 (GRCm39) V823A probably benign Het
Irf5 A G 6: 29,534,039 (GRCm39) N95S probably damaging Het
Kdr A T 5: 76,125,360 (GRCm39) M379K probably benign Het
Kif19a G T 11: 114,656,281 (GRCm39) probably benign Het
Klhdc4 T C 8: 122,526,397 (GRCm39) probably null Het
Lama2 A T 10: 26,995,976 (GRCm39) I1717N probably damaging Het
Lama4 A T 10: 38,968,295 (GRCm39) Q1479L probably benign Het
Lgr5 T A 10: 115,288,410 (GRCm39) T745S probably damaging Het
Lifr T A 15: 7,196,540 (GRCm39) probably null Het
Llgl1 C T 11: 60,596,812 (GRCm39) R138C possibly damaging Het
Mccc1 A T 3: 36,044,005 (GRCm39) V246E probably damaging Het
Mdn1 T A 4: 32,725,944 (GRCm39) L2621H probably benign Het
Mecr C A 4: 131,581,089 (GRCm39) A80D probably damaging Het
Mia2 A G 12: 59,154,905 (GRCm39) E206G probably damaging Het
Nubpl A G 12: 52,179,203 (GRCm39) probably benign Het
Obscn C T 11: 59,024,053 (GRCm39) R539H probably damaging Het
Or4n4b T A 14: 50,535,879 (GRCm39) T296S probably benign Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pde5a A T 3: 122,648,895 (GRCm39) K838* probably null Het
Pgm3 A G 9: 86,444,650 (GRCm39) L295P probably damaging Het
Pkp2 T C 16: 16,064,793 (GRCm39) L439P possibly damaging Het
Polr1a T A 6: 71,897,500 (GRCm39) C205* probably null Het
Rab3gap1 T A 1: 127,855,249 (GRCm39) I429K probably benign Het
Rassf8 T C 6: 145,761,295 (GRCm39) V207A probably benign Het
Sacs T A 14: 61,451,530 (GRCm39) D4525E possibly damaging Het
Sec24a A T 11: 51,598,082 (GRCm39) L864Q probably damaging Het
Sptlc2 A T 12: 87,388,380 (GRCm39) D367E probably benign Het
Ssc4d T C 5: 135,996,810 (GRCm39) D97G possibly damaging Het
Tjp1 A G 7: 65,177,400 (GRCm39) Y3H possibly damaging Het
Tkt T A 14: 30,291,102 (GRCm39) probably null Het
Trim60 T A 8: 65,453,133 (GRCm39) N372I possibly damaging Het
Trpm2 T C 10: 77,759,389 (GRCm39) N1132D probably benign Het
Tsc22d1 T C 14: 76,654,154 (GRCm39) I211T probably damaging Het
Ttc39b T C 4: 83,180,088 (GRCm39) K132E possibly damaging Het
Ttn C T 2: 76,553,932 (GRCm39) V30924I probably damaging Het
Tubgcp6 G A 15: 88,987,173 (GRCm39) Q1267* probably null Het
Zfp30 C A 7: 29,492,043 (GRCm39) T180N probably benign Het
Zp2 A G 7: 119,731,614 (GRCm39) *714R probably null 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
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
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'- CACTTCTCTGAAAGGCCTGGAG -3'
(R):5'- GTCCATGTTCTTTTGAAGTCCG -3'

Sequencing Primer
(F):5'- CTCTGAAAGGCCTGGAGTATGTTTC -3'
(R):5'- GTCCTTGAACTCACAGAATTCGG -3'
Posted On 2019-06-26