Incidental Mutation 'R1104:Spata6l'
ID 98423
Institutional Source Beutler Lab
Gene Symbol Spata6l
Ensembl Gene ENSMUSG00000064202
Gene Name spermatogenesis associated 6 like
Synonyms 4430402I18Rik
MMRRC Submission 039177-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1104 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 28899836-28945289 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 28945032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000123818 (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 null
Transcript: ENSMUST00000162110
AA Change: M1V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: M1V

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 null
Transcript: ENSMUST00000175647
AA Change: M1V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202
AA Change: M1V

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Meta Mutation Damage Score 0.9604 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930550C14Rik A G 9: 53,332,917 (GRCm39) I93V probably benign Het
Abcg5 A C 17: 84,989,477 (GRCm39) I77S possibly damaging Het
Adam3 T C 8: 25,171,545 (GRCm39) Y762C probably benign Het
Agap1 T C 1: 89,716,962 (GRCm39) S26P probably damaging Het
Ago1 T C 4: 126,347,426 (GRCm39) Y441C probably damaging Het
B3gnt3 A G 8: 72,146,481 (GRCm39) L16S possibly damaging Het
Btaf1 T A 19: 36,982,002 (GRCm39) D1677E probably damaging Het
Cd5l T A 3: 87,268,206 (GRCm39) S18T probably benign Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Cfap61 C A 2: 145,792,981 (GRCm39) S64* probably null Het
Cryzl2 T A 1: 157,298,174 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dhrs1 T C 14: 55,981,162 (GRCm39) K83E probably benign Het
Dmrt2 T A 19: 25,655,980 (GRCm39) F526L probably benign Het
Dnajb14 T A 3: 137,614,115 (GRCm39) M342K possibly damaging Het
Dpf3 A G 12: 83,378,761 (GRCm39) V101A probably benign Het
Dthd1 A C 5: 62,979,302 (GRCm39) T321P probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fras1 G A 5: 96,856,530 (GRCm39) R1971Q probably benign Het
Fry A G 5: 150,419,754 (GRCm39) N608S probably damaging Het
Gabrr3 T A 16: 59,281,998 (GRCm39) V451D probably damaging Het
Glg1 A G 8: 111,924,235 (GRCm39) L251P probably benign Het
Gli2 T A 1: 118,781,080 (GRCm39) S222C probably damaging Het
Gsr A G 8: 34,159,949 (GRCm39) E99G probably damaging Het
H1f5 T C 13: 21,964,451 (GRCm39) T92A possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hus1b T C 13: 31,131,679 (GRCm39) probably benign Het
Igf1r T A 7: 67,844,774 (GRCm39) I849N possibly damaging Het
Itih5 A G 2: 10,256,323 (GRCm39) T930A probably benign Het
Ivns1abp T A 1: 151,235,860 (GRCm39) M309K probably benign Het
Kdm3b T A 18: 34,952,864 (GRCm39) F1078Y probably damaging Het
Krt12 C A 11: 99,312,792 (GRCm39) G84V unknown Het
Krt40 T G 11: 99,431,059 (GRCm39) E150A probably damaging Het
Lcn11 G T 2: 25,669,115 (GRCm39) probably benign Het
Lcor G T 19: 41,574,502 (GRCm39) G1086C probably damaging Het
Liph A G 16: 21,802,898 (GRCm39) I57T possibly damaging Het
Lrrc46 C T 11: 96,926,997 (GRCm39) V107M probably damaging Het
Ltb4r1 T C 14: 56,004,832 (GRCm39) I45T probably damaging Het
Mapkbp1 A G 2: 119,841,554 (GRCm39) probably benign Het
Mark3 C T 12: 111,584,831 (GRCm39) probably benign Het
Mug2 C T 6: 122,036,014 (GRCm39) A642V probably benign Het
Myh11 A G 16: 14,019,991 (GRCm39) S1814P possibly damaging Het
Ndst1 T A 18: 60,830,218 (GRCm39) S631C probably damaging Het
Nrbf2 A T 10: 67,103,691 (GRCm39) D137E possibly damaging Het
Or2ag16 A T 7: 106,351,989 (GRCm39) M202K probably benign Het
Or51l4 A G 7: 103,404,183 (GRCm39) V203A probably benign Het
Or6c208 T A 10: 129,224,090 (GRCm39) M196K probably benign Het
Parn A G 16: 13,485,449 (GRCm39) Y16H probably damaging Het
Parp14 A G 16: 35,664,785 (GRCm39) probably benign Het
Prl3d1 C T 13: 27,283,992 (GRCm39) T187I probably benign Het
Ptgir G A 7: 16,641,055 (GRCm39) probably null Het
Rabgap1l C T 1: 160,059,445 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rnf213 T C 11: 119,368,055 (GRCm39) Y4697H probably benign Het
Rps6ka4 T A 19: 6,808,364 (GRCm39) I598F probably damaging Het
Ryr2 C T 13: 11,684,855 (GRCm39) V3029M probably damaging Het
Slc34a1 T C 13: 24,003,920 (GRCm39) F335S probably damaging Het
Stau2 A T 1: 16,510,585 (GRCm39) Y124* probably null Het
Tbl3 A G 17: 24,920,580 (GRCm39) I652T probably benign Het
Trappc3 C T 4: 126,166,759 (GRCm39) probably benign Het
Trim60 A T 8: 65,454,071 (GRCm39) F59L probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,648,453 (GRCm39) F4686S probably benign Het
Vcan T C 13: 89,840,529 (GRCm39) T1672A probably damaging Het
Vmn1r215 T A 13: 23,260,758 (GRCm39) I266N possibly damaging Het
Vmn2r6 A T 3: 64,445,487 (GRCm39) V657E possibly damaging Het
Wdr95 G T 5: 149,529,802 (GRCm39) A548S probably benign Het
Zfp12 A G 5: 143,231,500 (GRCm39) Y609C probably damaging Het
Znfx1 C A 2: 166,897,560 (GRCm39) E455* probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGCCAAGGAACATGTCGGTTTGGG -3'
(R):5'- AGCATAAATGCGCCTGCGTCTC -3'

Sequencing Primer
(F):5'- ACAGATTGAACTGAGTTTAAAGGC -3'
(R):5'- GACGCTTCAGCCTTCTGAAAG -3'
Posted On 2014-01-05