Incidental Mutation 'R1582:Spata6'
ID 171460
Institutional Source Beutler Lab
Gene Symbol Spata6
Ensembl Gene ENSMUSG00000034401
Gene Name spermatogenesis associated 6
Synonyms KRP, 1700062C23Rik, Hash
MMRRC Submission 039619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1582 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 111577151-111686339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111637994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 275 (P275S)
Ref Sequence ENSEMBL: ENSMUSP00000081383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038868] [ENSMUST00000084354] [ENSMUST00000153746]
AlphaFold Q3U6K5
Predicted Effect probably benign
Transcript: ENSMUST00000038868
AA Change: P275S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: P275S

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: P275S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: P275S

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: ENSMUST00000156179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143879
Predicted Effect probably benign
Transcript: ENSMUST00000153746
SMART Domains Protein: ENSMUSP00000114610
Gene: ENSMUSG00000034401

DomainStartEndE-ValueType
Pfam:SPATA6 10 149 3e-58 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.6%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C G 2: 31,690,371 (GRCm39) A630G probably damaging Het
Actr3 A G 1: 125,333,662 (GRCm39) Y202H probably benign Het
Adamts19 A G 18: 59,103,013 (GRCm39) N685D probably damaging Het
Atl3 A G 19: 7,494,264 (GRCm39) T138A probably damaging Het
Bpifa2 T C 2: 153,855,638 (GRCm39) S188P probably damaging Het
Bsn T C 9: 107,982,291 (GRCm39) T3821A unknown Het
Dcun1d2 A G 8: 13,330,926 (GRCm39) L68P probably damaging Het
Ddhd1 A T 14: 45,842,566 (GRCm39) L630I probably damaging Het
Ddx25 T C 9: 35,457,272 (GRCm39) T348A probably damaging Het
Dtnb C T 12: 3,823,554 (GRCm39) T580M possibly damaging Het
Dysf A G 6: 84,074,749 (GRCm39) S561G probably damaging Het
Ehbp1l1 A G 19: 5,771,995 (GRCm39) I101T possibly damaging Het
Erich3 T C 3: 154,469,960 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a T C 1: 24,068,398 (GRCm39) T611A probably damaging Het
Gpbp1 T C 13: 111,573,066 (GRCm39) probably null Het
H2-Oa A T 17: 34,313,695 (GRCm39) T218S probably damaging Het
Kctd19 G A 8: 106,122,092 (GRCm39) L152F probably damaging Het
Kdm5b T A 1: 134,552,591 (GRCm39) M1189K probably damaging Het
Kif13a A G 13: 46,947,398 (GRCm39) V862A probably benign Het
Lct T C 1: 128,228,299 (GRCm39) T1065A probably damaging Het
Mark3 G A 12: 111,621,744 (GRCm39) A697T probably benign Het
Mosmo A G 7: 120,329,728 (GRCm39) I116M possibly damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc15 A T 2: 110,567,817 (GRCm39) M321L probably benign Het
Naa25 T A 5: 121,572,892 (GRCm39) N670K probably benign Het
Or1e1c T A 11: 73,266,090 (GRCm39) C172S probably damaging Het
Or5e1 G T 7: 108,354,317 (GRCm39) V85L probably benign Het
Or6z3 A G 7: 6,463,813 (GRCm39) M102V probably benign Het
Ppara T C 15: 85,682,429 (GRCm39) I375T possibly damaging Het
Prss27 A G 17: 24,263,877 (GRCm39) I188V probably benign Het
Rbms1 A T 2: 60,589,179 (GRCm39) M287K possibly damaging Het
Relt C T 7: 100,500,560 (GRCm39) probably null Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Smarca2 G A 19: 26,729,305 (GRCm39) D19N probably damaging Het
Sorbs2 G A 8: 46,258,814 (GRCm39) G620D probably damaging Het
Spata31d1c C A 13: 65,181,038 (GRCm39) Q46K probably benign Het
Tas2r108 T A 6: 40,470,566 (GRCm39) V14D probably benign Het
Thbs2 G T 17: 14,891,550 (GRCm39) P996T probably damaging Het
Tmem131l T C 3: 83,839,090 (GRCm39) Q620R probably damaging Het
Ubap2l A G 3: 89,941,978 (GRCm39) S203P probably damaging Het
Unc45b G A 11: 82,816,771 (GRCm39) G404S probably benign Het
Uri1 A G 7: 37,664,811 (GRCm39) S292P possibly damaging Het
Usp21 A T 1: 171,110,655 (GRCm39) C444S probably damaging Het
Vmn1r117 A T 7: 20,617,484 (GRCm39) V188D possibly damaging Het
Vmn1r7 T C 6: 57,002,143 (GRCm39) D39G probably damaging Het
Wdr25 T C 12: 108,863,980 (GRCm39) F42L possibly 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
IGL03181:Spata6 APN 4 111,679,963 (GRCm39) missense probably benign 0.11
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 4 111,637,992 (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
Predicted Primers PCR Primer
(F):5'- AGAAGCACTGTGGAATTCACCTGC -3'
(R):5'- AGACCCTAGCTCCAGGCAATTAGC -3'

Sequencing Primer
(F):5'- TGGAATTCACCTGCTGTGTG -3'
(R):5'- cccctctctctctctctctg -3'
Posted On 2014-04-13