Incidental Mutation 'R8965:Spata6'
ID 682666
Institutional Source Beutler Lab
Gene Symbol Spata6
Ensembl Gene ENSMUSG00000034401
Gene Name spermatogenesis associated 6
Synonyms KRP, 1700062C23Rik, Hash
MMRRC Submission 068799-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8965 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 111577151-111686339 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 111680009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 422 (Y422*)
Ref Sequence ENSEMBL: ENSMUSP00000036964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038868] [ENSMUST00000084354]
AlphaFold Q3U6K5
Predicted Effect probably null
Transcript: ENSMUST00000038868
AA Change: Y422*
SMART Domains Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: Y422*

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 null
Transcript: ENSMUST00000084354
AA Change: Y406*
SMART Domains Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: Y406*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,760,723 (GRCm39) I1260K probably benign Het
Ace3 G T 11: 105,896,175 (GRCm39) C707F probably benign Het
Ahi1 A G 10: 20,839,761 (GRCm39) H224R probably benign Het
Atp1a2 T C 1: 172,107,612 (GRCm39) D669G probably benign Het
Cdk5rap2 A C 4: 70,185,042 (GRCm39) V1136G probably benign Het
Cntnap4 T A 8: 113,479,646 (GRCm39) V277E probably damaging Het
Cyp2d12 T C 15: 82,443,186 (GRCm39) L416P possibly damaging Het
Dnah17 T G 11: 117,915,492 (GRCm39) T4376P probably damaging Het
E4f1 C T 17: 24,664,504 (GRCm39) V429M probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Erich6 A T 3: 58,531,738 (GRCm39) D419E probably benign Het
Grid2 A G 6: 64,296,990 (GRCm39) E451G probably damaging Het
Herpud1 T C 8: 95,118,469 (GRCm39) Y181H probably damaging Het
Igkv2-109 A T 6: 68,280,112 (GRCm39) Y111F probably damaging Het
Lztr1 T C 16: 17,327,296 (GRCm39) probably null Het
Myh13 A T 11: 67,255,432 (GRCm39) M1601L probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Or10ag53 A T 2: 87,082,901 (GRCm39) I207F possibly damaging Het
Or2w2 T C 13: 21,758,387 (GRCm39) T80A probably benign Het
Or5p52 T C 7: 107,502,314 (GRCm39) L130P probably damaging Het
P2rx1 T C 11: 72,900,051 (GRCm39) V156A probably benign Het
P3h2 T C 16: 25,791,134 (GRCm39) N444S probably benign Het
Patz1 T C 11: 3,257,815 (GRCm39) Y559H probably damaging Het
Pcna T C 2: 132,094,769 (GRCm39) D63G possibly damaging Het
Pcnx2 G A 8: 126,485,853 (GRCm39) A1915V probably benign Het
Peli1 T C 11: 21,098,488 (GRCm39) Y408H probably damaging Het
Psma5 T A 3: 108,172,510 (GRCm39) probably null Het
Ptpn11 G A 5: 121,301,229 (GRCm39) T205M possibly damaging Het
Rapgef2 A G 3: 78,999,851 (GRCm39) L453P probably damaging Het
Slc12a4 A G 8: 106,671,982 (GRCm39) V910A possibly damaging Het
Spaca6 A G 17: 18,058,718 (GRCm39) T306A probably damaging Het
Svop A G 5: 114,173,271 (GRCm39) Y367H probably benign Het
Trgv3 T A 13: 19,427,180 (GRCm39) L21Q probably damaging Het
Trim38 T C 13: 23,975,006 (GRCm39) L315S possibly damaging Het
Ttc12 A G 9: 49,349,718 (GRCm39) V693A probably benign Het
Usp20 T A 2: 30,901,797 (GRCm39) Y521N possibly damaging Het
Vcam1 T A 3: 115,922,422 (GRCm39) K34* probably null Het
Vwa1 A T 4: 155,857,440 (GRCm39) Y119* probably null Het
Vwa5b2 A G 16: 20,415,076 (GRCm39) H366R possibly damaging Het
Wac C A 18: 7,905,936 (GRCm39) Q168K probably benign Het
Wipf2 A G 11: 98,783,497 (GRCm39) S308G probably benign Het
Zbtb25 A C 12: 76,396,577 (GRCm39) I215S probably benign Het
Zfp677 T C 17: 21,617,155 (GRCm39) S71P 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
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 4 111,637,994 (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
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'- TCCTCAGTTGTCCAAGCACTTG -3'
(R):5'- CCTGAAACTACAGCTCTAGGGAGATC -3'

Sequencing Primer
(F):5'- CAGTTGTCCAAGCACTTGATTCAG -3'
(R):5'- TGTCTTCAAACTCCAAAGGCATCTG -3'
Posted On 2021-10-11