Incidental Mutation 'IGL03181:Spata6'
ID 412237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata6
Ensembl Gene ENSMUSG00000034401
Gene Name spermatogenesis associated 6
Synonyms KRP, 1700062C23Rik, Hash
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 4
Chromosomal Location 111577151-111686339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111679963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000081383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038868] [ENSMUST00000084354]
AlphaFold Q3U6K5
Predicted Effect probably benign
Transcript: ENSMUST00000038868
AA Change: D407G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: D407G

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 benign
Transcript: ENSMUST00000084354
AA Change: D391G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: D391G

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: ENSMUST00000132802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149834
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Spata6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Spata6 APN 4 111,663,125 (GRCm39) splice site probably benign
IGL02110:Spata6 APN 4 111,642,003 (GRCm39) missense possibly damaging 0.53
PIT4378001:Spata6 UTSW 4 111,603,378 (GRCm39) missense possibly damaging 0.71
R0043:Spata6 UTSW 4 111,638,002 (GRCm39) missense probably damaging 0.98
R1199:Spata6 UTSW 4 111,656,342 (GRCm39) missense possibly damaging 0.53
R1491:Spata6 UTSW 4 111,603,388 (GRCm39) missense probably damaging 0.99
R1548:Spata6 UTSW 4 111,636,203 (GRCm39) missense probably benign 0.18
R1582:Spata6 UTSW 4 111,637,994 (GRCm39) missense probably benign 0.00
R1582:Spata6 UTSW 4 111,637,992 (GRCm39) nonsense probably null
R4690:Spata6 UTSW 4 111,632,023 (GRCm39) missense probably damaging 1.00
R5123:Spata6 UTSW 4 111,625,992 (GRCm39) missense possibly damaging 0.71
R5360:Spata6 UTSW 4 111,680,026 (GRCm39) missense possibly damaging 0.96
R5373:Spata6 UTSW 4 111,680,031 (GRCm39) critical splice donor site probably null
R5396:Spata6 UTSW 4 111,656,315 (GRCm39) missense probably damaging 1.00
R5919:Spata6 UTSW 4 111,636,405 (GRCm39) missense probably damaging 0.96
R6017:Spata6 UTSW 4 111,632,024 (GRCm39) missense probably damaging 1.00
R6476:Spata6 UTSW 4 111,632,020 (GRCm39) missense probably damaging 1.00
R6573:Spata6 UTSW 4 111,636,476 (GRCm39) missense probably damaging 1.00
R6807:Spata6 UTSW 4 111,642,012 (GRCm39) missense probably benign 0.01
R7341:Spata6 UTSW 4 111,625,935 (GRCm39) nonsense probably null
R7406:Spata6 UTSW 4 111,638,017 (GRCm39) missense possibly damaging 0.70
R8116:Spata6 UTSW 4 111,685,517 (GRCm39) missense possibly damaging 0.96
R8745:Spata6 UTSW 4 111,636,476 (GRCm39) missense probably benign 0.18
R8965:Spata6 UTSW 4 111,680,009 (GRCm39) nonsense probably null
R9342:Spata6 UTSW 4 111,636,389 (GRCm39) missense possibly damaging 0.53
R9400:Spata6 UTSW 4 111,577,428 (GRCm39) missense probably benign 0.04
R9539:Spata6 UTSW 4 111,685,526 (GRCm39) missense possibly damaging 0.70
RF002:Spata6 UTSW 4 111,685,502 (GRCm39) missense probably benign
X0066:Spata6 UTSW 4 111,685,501 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02