Incidental Mutation 'R0043:Spata6'
ID18559
Institutional Source Beutler Lab
Gene Symbol Spata6
Ensembl Gene ENSMUSG00000034401
Gene Namespermatogenesis associated 6
Synonyms1700062C23Rik, Hash, KRP
MMRRC Submission 038337-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0043 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location111719984-111829184 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111780805 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 277 (R277S)
Ref Sequence ENSEMBL: ENSMUSP00000081383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038868] [ENSMUST00000084354] [ENSMUST00000153746]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038868
AA Change: R277S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: R277S

DomainStartEndE-ValueType
Pfam:SPATA6 11 149 3.4e-56 PFAM
low complexity region 182 198 N/A INTRINSIC
low complexity region 397 413 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084354
AA Change: R277S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: R277S

DomainStartEndE-ValueType
Pfam:SPATA6 10 149 1.9e-57 PFAM
low complexity region 182 198 N/A INTRINSIC
low complexity region 377 394 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149834
Predicted Effect probably benign
Transcript: ENSMUST00000153746
SMART Domains Protein: ENSMUSP00000114610
Gene: ENSMUSG00000034401

DomainStartEndE-ValueType
Pfam:SPATA6 10 149 3e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156179
Meta Mutation Damage Score 0.0988 question?
Coding Region Coverage
  • 1x: 81.2%
  • 3x: 72.1%
  • 10x: 49.9%
  • 20x: 30.2%
Validation Efficiency 90% (56/62)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit abnormal formation of the sperm connecting piece during late spermiogenesis, leading to acephalic spermatozoa and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,802 I766F possibly damaging Het
Accs A G 2: 93,841,885 Y213H probably benign Het
Adcy9 A G 16: 4,289,015 L982P probably benign Het
Cntnap2 T A 6: 46,483,983 V651E probably benign Het
Cstf3 A T 2: 104,645,085 probably benign Het
Dnah1 T C 14: 31,274,405 D2658G probably damaging Het
Dsg4 T C 18: 20,452,972 S240P probably damaging Het
Dync2h1 C T 9: 7,005,574 M3765I probably benign Het
Fam160b2 A T 14: 70,588,661 S304T probably benign Het
Fbxw7 T C 3: 84,972,567 probably benign Het
Gata4 T C 14: 63,203,301 probably benign Het
Hyal1 T C 9: 107,579,320 L152P probably benign Het
Ifi207 T A 1: 173,729,112 T694S possibly damaging Het
Kalrn C A 16: 34,054,906 G99W probably damaging Het
Man1a2 A T 3: 100,587,880 W448R probably damaging Het
Mfsd6 A T 1: 52,708,652 Y351* probably null Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mki67 T C 7: 135,700,581 D908G probably benign Het
Nav3 A G 10: 109,767,518 S1057P possibly damaging Het
Rasgef1b T C 5: 99,243,194 Y102C probably damaging Het
Sbf1 A G 15: 89,295,561 V1281A probably benign Het
Sfmbt1 T A 14: 30,816,807 S794R probably damaging Het
Skint3 T A 4: 112,277,623 V331E probably damaging Het
Spink12 T C 18: 44,107,696 C50R probably damaging Het
Trappc11 A G 8: 47,505,575 probably benign Het
Ube2u G T 4: 100,482,829 V66F possibly damaging Het
Usp42 A C 5: 143,714,710 V1186G probably benign Het
Yme1l1 T C 2: 23,187,803 I419T probably damaging Het
Other mutations in Spata6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Spata6 APN 4 111805928 splice site probably benign
IGL02110:Spata6 APN 4 111784806 missense possibly damaging 0.53
IGL03181:Spata6 APN 4 111822766 missense probably benign 0.11
PIT4378001:Spata6 UTSW 4 111746181 missense possibly damaging 0.71
R1199:Spata6 UTSW 4 111799145 missense possibly damaging 0.53
R1491:Spata6 UTSW 4 111746191 missense probably damaging 0.99
R1548:Spata6 UTSW 4 111779006 missense probably benign 0.18
R1582:Spata6 UTSW 4 111780795 nonsense probably null
R1582:Spata6 UTSW 4 111780797 missense probably benign 0.00
R4690:Spata6 UTSW 4 111774826 missense probably damaging 1.00
R5123:Spata6 UTSW 4 111768795 missense possibly damaging 0.71
R5360:Spata6 UTSW 4 111822829 missense possibly damaging 0.96
R5373:Spata6 UTSW 4 111822834 critical splice donor site probably null
R5396:Spata6 UTSW 4 111799118 missense probably damaging 1.00
R5919:Spata6 UTSW 4 111779208 missense probably damaging 0.96
R6017:Spata6 UTSW 4 111774827 missense probably damaging 1.00
R6476:Spata6 UTSW 4 111774823 missense probably damaging 1.00
R6573:Spata6 UTSW 4 111779279 missense probably damaging 1.00
R6807:Spata6 UTSW 4 111784815 missense probably benign 0.01
R7341:Spata6 UTSW 4 111768738 nonsense probably null
R7406:Spata6 UTSW 4 111780820 missense possibly damaging 0.70
RF002:Spata6 UTSW 4 111828305 missense probably benign
X0066:Spata6 UTSW 4 111828304 missense probably benign 0.00
Posted On2013-03-25