Incidental Mutation 'R7530:Spata6l'
ID 583288
Institutional Source Beutler Lab
Gene Symbol Spata6l
Ensembl Gene ENSMUSG00000064202
Gene Name spermatogenesis associated 6 like
Synonyms 4430402I18Rik
MMRRC Submission 045602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R7530 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 28899836-28945289 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 28926121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 43 (Y43*)
Ref Sequence ENSEMBL: ENSMUSP00000025872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
AlphaFold B2RV46
Predicted Effect probably null
Transcript: ENSMUST00000025872
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: Y43*

DomainStartEndE-ValueType
Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160542
AA Change: Y29*
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: Y29*

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161813
Predicted Effect probably null
Transcript: ENSMUST00000162110
AA Change: Y97*
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: Y97*

DomainStartEndE-ValueType
Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000164777
AA Change: Y29*
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: Y29*

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000175647
AA Change: M67K
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202
AA Change: M67K

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik C T 2: 155,845,840 (GRCm39) V6I probably benign Het
Atp10a A G 7: 58,423,724 (GRCm39) T230A probably benign Het
Atp5mc2 A T 15: 102,576,183 (GRCm39) M1K probably null Het
Atp8a1 A C 5: 67,902,971 (GRCm39) L535R Het
Bsn A G 9: 107,989,155 (GRCm39) I2199T probably damaging Het
Ccdc73 A G 2: 104,824,915 (GRCm39) T155A Het
Cdc42bpg T G 19: 6,372,305 (GRCm39) F1430L probably benign Het
Cdc42bpg G T 19: 6,372,306 (GRCm39) V1431L probably benign Het
Chat A T 14: 32,130,915 (GRCm39) Y575* probably null Het
Cimip4 T C 15: 78,270,516 (GRCm39) D84G probably benign Het
Col6a4 A T 9: 105,945,589 (GRCm39) C842S probably damaging Het
Coq2 T C 5: 100,822,008 (GRCm39) S34G probably benign Het
Crybg1 C T 10: 43,875,069 (GRCm39) A680T possibly damaging Het
Ctsr T A 13: 61,310,931 (GRCm39) K38N probably damaging Het
Dpm2 T C 2: 32,462,313 (GRCm39) F33S probably damaging Het
Ecpas A G 4: 58,815,317 (GRCm39) M1322T probably damaging Het
Ext2 T A 2: 93,491,998 (GRCm39) H564L probably benign Het
Fbxl2 G T 9: 113,818,241 (GRCm39) H202N probably benign Het
Fra10ac1 A T 19: 38,204,353 (GRCm39) Y74* probably null Het
Greb1 T A 12: 16,767,207 (GRCm39) I332F probably benign Het
Ifnar2 A G 16: 91,201,201 (GRCm39) S481G probably benign Het
Igkv9-123 G A 6: 67,931,381 (GRCm39) P62S possibly damaging Het
Iqub T C 6: 24,450,622 (GRCm39) Q659R probably benign Het
Kansl2 T C 15: 98,426,896 (GRCm39) T242A probably benign Het
Kif28 C T 1: 179,536,045 (GRCm39) G543D probably benign Het
Lsg1 A G 16: 30,401,419 (GRCm39) S93P possibly damaging Het
Med23 T A 10: 24,781,851 (GRCm39) C1052S probably benign Het
Mgam G T 6: 40,686,152 (GRCm39) probably null Het
Mtmr4 C T 11: 87,502,702 (GRCm39) R919W probably damaging Het
Muc5ac G T 7: 141,367,536 (GRCm39) V2986L possibly damaging Het
Myo5b A G 18: 74,864,802 (GRCm39) E1340G probably benign Het
Nkd2 T C 13: 73,995,078 (GRCm39) D40G possibly damaging Het
Nudt5 T C 2: 5,869,179 (GRCm39) L135S probably damaging Het
Oca2 A C 7: 55,981,720 (GRCm39) D614A probably damaging Het
Or1e16 A G 11: 73,279,189 (GRCm39) V221A possibly damaging Het
Or6c201 A C 10: 128,969,849 (GRCm39) probably null Het
Or8k24 T A 2: 86,216,515 (GRCm39) L82F probably damaging Het
Plec C A 15: 76,069,844 (GRCm39) A991S unknown Het
Plekhg2 G A 7: 28,061,353 (GRCm39) R817C probably damaging Het
Plrg1 T A 3: 82,965,989 (GRCm39) L48H probably damaging Het
Prx A G 7: 27,207,397 (GRCm39) E18G probably damaging Het
Ptprf T C 4: 118,069,945 (GRCm39) Y1479C probably damaging Het
Rap1b A T 10: 117,653,357 (GRCm39) Y159* probably null Het
Rbck1 T C 2: 152,166,212 (GRCm39) E242G possibly damaging Het
Rxfp1 T C 3: 79,557,768 (GRCm39) D570G probably benign Het
Slc35f5 G T 1: 125,512,275 (GRCm39) L358F probably damaging Het
Smarcd2 A G 11: 106,156,587 (GRCm39) W274R probably damaging Het
Ssu72 A G 4: 155,815,786 (GRCm39) T77A probably benign Het
Tomm40 G A 7: 19,436,829 (GRCm39) T297I possibly damaging Het
Urb1 A T 16: 90,558,522 (GRCm39) I1743N probably damaging Het
Utp20 G A 10: 88,588,868 (GRCm39) R2434C 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
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
R7883:Spata6l UTSW 19 28,906,013 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CATCTGACCATGGGCAGAAATAGAAC -3'
(R):5'- TTTTCTCAATGGAGGGTCCC -3'

Sequencing Primer
(F):5'- AGGCCAACCCTGTCAGGAATG -3'
(R):5'- CTCCTCCGAGGTGACTATAGATTG -3'
Posted On 2019-10-17