Incidental Mutation 'R2851:Spata1'
ID 252182
Institutional Source Beutler Lab
Gene Symbol Spata1
Ensembl Gene ENSMUSG00000028188
Gene Name spermatogenesis associated 1
Synonyms 4921536I21Rik, SP-2
MMRRC Submission 040444-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2851 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146162951-146205508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146193295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 96 (L96P)
Ref Sequence ENSEMBL: ENSMUSP00000142800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]
AlphaFold Q9D5R4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029839
AA Change: L96P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: L96P

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
Pfam:SPATA1_C 279 428 1.7e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000093951
AA Change: L96P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188
AA Change: L96P

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197684
Predicted Effect possibly damaging
Transcript: ENSMUST00000197980
AA Change: L96P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: L96P

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
low complexity region 215 227 N/A INTRINSIC
SCOP:d1eq1a_ 267 365 8e-5 SMART
Meta Mutation Damage Score 0.0775 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Ceacam11 T C 7: 17,712,451 (GRCm39) I300T probably benign Het
Cmtm5 A G 14: 55,175,512 (GRCm39) probably benign Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Col12a1 A T 9: 79,585,614 (GRCm39) N1254K probably damaging Het
Crispld2 T A 8: 120,740,828 (GRCm39) L107Q probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cyp1b1 T C 17: 80,017,649 (GRCm39) N502S probably benign Het
Cyp51 A T 5: 4,149,183 (GRCm39) D231E probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dscam T C 16: 96,423,915 (GRCm39) T1677A possibly damaging Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Emilin1 A G 5: 31,074,509 (GRCm39) D250G probably benign Het
Frrs1 A G 3: 116,678,778 (GRCm39) N200S probably benign Het
Fstl5 T A 3: 76,337,045 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,703,159 (GRCm39) S92A probably damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Il19 A G 1: 130,863,694 (GRCm39) V99A possibly damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Itgad T A 7: 127,803,732 (GRCm39) V42E probably benign Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mfsd4b2 T A 10: 39,798,119 (GRCm39) S79C probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mthfsd G A 8: 121,832,512 (GRCm39) T60I probably benign Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Nceh1 A G 3: 27,295,504 (GRCm39) Y255C probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ndufb5 T C 3: 32,800,600 (GRCm39) F58L probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Obscn C A 11: 58,920,844 (GRCm39) probably null Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pias3 A G 3: 96,610,853 (GRCm39) E377G possibly damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Ppa2 A T 3: 133,026,764 (GRCm39) probably null Het
Proser1 G A 3: 53,387,966 (GRCm39) A885T probably benign Het
Robo2 A G 16: 73,758,776 (GRCm39) I665T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Secisbp2 G A 13: 51,808,671 (GRCm39) probably null Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Tbl3 T C 17: 24,921,557 (GRCm39) T445A probably damaging Het
Tdrd12 G A 7: 35,184,798 (GRCm39) T705M probably damaging Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Timm22 G A 11: 76,304,925 (GRCm39) A188T probably damaging Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Tmprss12 C A 15: 100,180,296 (GRCm39) T112K possibly damaging Het
U2surp A G 9: 95,382,735 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,230,036 (GRCm39) E25D probably benign Het
Wdr62 A T 7: 29,960,862 (GRCm39) N22K possibly damaging Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A possibly damaging Het
Other mutations in Spata1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Spata1 APN 3 146,181,997 (GRCm39) missense possibly damaging 0.94
IGL01306:Spata1 APN 3 146,193,154 (GRCm39) nonsense probably null
IGL01537:Spata1 APN 3 146,195,558 (GRCm39) splice site probably benign
IGL02363:Spata1 APN 3 146,193,119 (GRCm39) missense possibly damaging 0.96
IGL02873:Spata1 APN 3 146,193,122 (GRCm39) missense possibly damaging 0.86
IGL02898:Spata1 APN 3 146,181,094 (GRCm39) missense possibly damaging 0.71
IGL03071:Spata1 APN 3 146,181,089 (GRCm39) missense possibly damaging 0.93
IGL03204:Spata1 APN 3 146,194,434 (GRCm39) missense probably benign 0.18
ANU23:Spata1 UTSW 3 146,193,154 (GRCm39) nonsense probably null
H8930:Spata1 UTSW 3 146,193,026 (GRCm39) nonsense probably null
R0414:Spata1 UTSW 3 146,181,943 (GRCm39) splice site probably null
R1109:Spata1 UTSW 3 146,181,053 (GRCm39) missense possibly damaging 0.51
R1742:Spata1 UTSW 3 146,175,378 (GRCm39) critical splice donor site probably null
R1816:Spata1 UTSW 3 146,186,962 (GRCm39) missense probably damaging 0.98
R2006:Spata1 UTSW 3 146,199,438 (GRCm39) missense probably benign 0.18
R2852:Spata1 UTSW 3 146,193,295 (GRCm39) missense possibly damaging 0.96
R3416:Spata1 UTSW 3 146,193,263 (GRCm39) splice site probably benign
R3911:Spata1 UTSW 3 146,181,079 (GRCm39) missense probably damaging 0.99
R4856:Spata1 UTSW 3 146,175,529 (GRCm39) missense probably damaging 0.99
R4859:Spata1 UTSW 3 146,175,529 (GRCm39) missense probably damaging 0.99
R4886:Spata1 UTSW 3 146,175,529 (GRCm39) missense probably damaging 0.99
R6902:Spata1 UTSW 3 146,181,078 (GRCm39) missense possibly damaging 0.77
R7459:Spata1 UTSW 3 146,181,977 (GRCm39) missense possibly damaging 0.86
R7532:Spata1 UTSW 3 146,173,946 (GRCm39) missense possibly damaging 0.86
R7997:Spata1 UTSW 3 146,182,035 (GRCm39) missense probably benign 0.44
R8194:Spata1 UTSW 3 146,195,614 (GRCm39) missense possibly damaging 0.72
R8673:Spata1 UTSW 3 146,181,079 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTTGATGCTGAATAAACATTTCCT -3'
(R):5'- ACACCAATTCCCATGCAAATGAT -3'

Sequencing Primer
(F):5'- TCCTAAGTGATCTATTACAGGAAGC -3'
(R):5'- TCAGTTAAGTTTGGTTCAGTGAATAG -3'
Posted On 2014-12-04