Incidental Mutation 'IGL00535:Spata6l'
ID 5675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata6l
Ensembl Gene ENSMUSG00000064202
Gene Name spermatogenesis associated 6 like
Synonyms 4430402I18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL00535
Quality Score
Status
Chromosome 19
Chromosomal Location 28899836-28945289 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 28937073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000045674] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
AlphaFold B2RV46
Predicted Effect probably benign
Transcript: ENSMUST00000025872
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045674
SMART Domains Protein: ENSMUSP00000047776
Gene: ENSMUSG00000040105

DomainStartEndE-ValueType
low complexity region 10 34 N/A INTRINSIC
low complexity region 69 84 N/A INTRINSIC
acidPPc 161 273 7.73e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160542
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161813
Predicted Effect probably benign
Transcript: ENSMUST00000162110
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164777
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T G 17: 79,935,328 (GRCm39) probably benign Het
Armc3 A G 2: 19,308,669 (GRCm39) E767G possibly damaging Het
Btaf1 A T 19: 36,974,935 (GRCm39) D1403V probably damaging Het
Chd2 C A 7: 73,190,576 (GRCm39) M2I probably benign Het
Cyp2r1 C A 7: 114,151,061 (GRCm39) M419I probably benign Het
Dnttip2 A T 3: 122,078,148 (GRCm39) R727W probably damaging Het
Gtf3c1 G T 7: 125,243,325 (GRCm39) H1760N probably benign Het
Iffo1 C T 6: 125,137,516 (GRCm39) A532V probably damaging Het
Ints6 T C 14: 62,940,628 (GRCm39) D574G probably damaging Het
Rims1 A T 1: 22,503,172 (GRCm39) S671T probably benign Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spam1 T A 6: 24,796,722 (GRCm39) Y224* probably null Het
Spata7 A C 12: 98,635,099 (GRCm39) E345A probably damaging Het
Tbc1d32 A G 10: 56,091,221 (GRCm39) probably benign Het
Tex28 T C X: 73,204,647 (GRCm39) H215R probably damaging Het
Tmigd3 A T 3: 105,824,384 (GRCm39) R118* probably null Het
Wnk4 T A 11: 101,155,175 (GRCm39) M362K probably damaging Het
Other mutations in Spata6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4044: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
Posted On 2012-04-20