Incidental Mutation 'R4044:Spata6l'
ID 314008
Institutional Source Beutler Lab
Gene Symbol Spata6l
Ensembl Gene ENSMUSG00000064202
Gene Name spermatogenesis associated 6 like
Synonyms 4430402I18Rik
MMRRC Submission 040967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R4044 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 28899836-28945289 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28923183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 80 (C80S)
Ref Sequence ENSEMBL: ENSMUSP00000124396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
AlphaFold B2RV46
Predicted Effect possibly damaging
Transcript: ENSMUST00000025872
AA Change: C94S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: C94S

DomainStartEndE-ValueType
Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160542
AA Change: C80S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: C80S

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161813
Predicted Effect possibly damaging
Transcript: ENSMUST00000162110
AA Change: C148S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: C148S

DomainStartEndE-ValueType
Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164777
AA Change: C80S

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: C80S

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175647
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Meta Mutation Damage Score 0.1309 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T A 9: 89,044,347 (GRCm39) noncoding transcript Het
Ada A T 2: 163,577,380 (GRCm39) I36N probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg7 T C 6: 114,678,939 (GRCm39) V384A probably benign Het
Ccl1 T A 11: 82,070,519 (GRCm39) I18L probably benign Het
Cep70 T A 9: 99,144,662 (GRCm39) C66S possibly damaging Het
D16Ertd472e A T 16: 78,372,894 (GRCm39) D14E probably damaging Het
Dnah9 T C 11: 66,024,461 (GRCm39) K278E probably benign Het
Dsg1a C A 18: 20,457,087 (GRCm39) N153K probably damaging Het
Galnt5 T A 2: 57,888,472 (GRCm39) I24N probably damaging Het
Grid1 A T 14: 35,172,358 (GRCm39) probably benign Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Igf1r A G 7: 67,839,810 (GRCm39) T706A possibly damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Jam3 C A 9: 27,013,159 (GRCm39) probably null Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Klk1b4 A G 7: 43,860,179 (GRCm39) M98V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Ksr2 C T 5: 117,693,127 (GRCm39) R192* probably null Het
L3mbtl4 T C 17: 69,084,909 (GRCm39) S607P possibly damaging Het
Map6 T C 7: 98,917,256 (GRCm39) C10R probably damaging Het
Myo3a A G 2: 22,467,712 (GRCm39) E322G probably damaging Het
Nell1 A G 7: 49,869,367 (GRCm39) N214S probably damaging Het
Npm3 T C 19: 45,736,692 (GRCm39) E149G possibly damaging Het
Or4k35 C T 2: 111,099,927 (GRCm39) V262I probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Orc3 G A 4: 34,587,055 (GRCm39) Q345* probably null Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pals1 G A 12: 78,871,613 (GRCm39) E398K probably benign Het
Pramel26 T A 4: 143,538,170 (GRCm39) N267I probably benign Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Reln A T 5: 22,333,630 (GRCm39) V264D possibly damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Scaf1 G A 7: 44,655,798 (GRCm39) probably benign Het
Sncaip A G 18: 53,040,475 (GRCm39) T890A probably benign Het
Thada A G 17: 84,749,135 (GRCm39) V612A probably benign Het
Tsnaxip1 G A 8: 106,560,177 (GRCm39) probably null Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vrtn T C 12: 84,695,844 (GRCm39) I198T probably damaging Het
Wnt9b T C 11: 103,622,824 (GRCm39) D193G probably damaging Het
Znrd2 T C 19: 5,780,431 (GRCm39) E189G probably damaging Het
Zswim5 A G 4: 116,843,899 (GRCm39) D979G probably damaging Het
Other mutations in Spata6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Spata6l APN 19 28,937,073 (GRCm39) intron probably benign
IGL01115:Spata6l APN 19 28,921,842 (GRCm39) splice site probably null
IGL01520:Spata6l APN 19 28,873,532 (GRCm39) splice site probably null
R1104:Spata6l UTSW 19 28,945,032 (GRCm39) start codon destroyed probably null 0.99
R1434:Spata6l UTSW 19 28,905,039 (GRCm39) splice site probably benign
R1850:Spata6l UTSW 19 28,916,571 (GRCm39) critical splice acceptor site probably null
R1992:Spata6l UTSW 19 28,926,024 (GRCm39) missense probably damaging 1.00
R4042:Spata6l UTSW 19 28,923,183 (GRCm39) missense possibly damaging 0.83
R4043:Spata6l UTSW 19 28,923,183 (GRCm39) missense possibly damaging 0.83
R4845:Spata6l UTSW 19 28,905,148 (GRCm39) missense probably benign
R4911:Spata6l UTSW 19 28,874,903 (GRCm39) critical splice donor site probably benign
R4933:Spata6l UTSW 19 28,919,175 (GRCm39) missense possibly damaging 0.86
R5213:Spata6l UTSW 19 28,940,964 (GRCm39) missense probably benign 0.22
R5396:Spata6l UTSW 19 28,905,089 (GRCm39) missense possibly damaging 0.66
R6898:Spata6l UTSW 19 28,921,688 (GRCm39) missense probably benign 0.01
R7530:Spata6l UTSW 19 28,926,121 (GRCm39) nonsense probably null
R7883:Spata6l UTSW 19 28,906,013 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCACAAACTACCCAGGTTATTG -3'
(R):5'- GCCAAGAACTGCTGGTTTAG -3'

Sequencing Primer
(F):5'- ACTACCCAGGTTATTGTATGTTCAG -3'
(R):5'- CTACAGGACACTTGGGTT -3'
Posted On 2015-04-30