Incidental Mutation 'IGL01537:Spata1'
ID 90023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata1
Ensembl Gene ENSMUSG00000028188
Gene Name spermatogenesis associated 1
Synonyms 4921536I21Rik, SP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL01537
Quality Score
Status
Chromosome 3
Chromosomal Location 146162951-146205508 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 146195558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]
AlphaFold Q9D5R4
Predicted Effect probably benign
Transcript: ENSMUST00000029839
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188

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 probably benign
Transcript: ENSMUST00000093951
SMART Domains Protein: ENSMUSP00000091483
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
low complexity region 89 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197684
Predicted Effect probably benign
Transcript: ENSMUST00000197980
SMART Domains Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 110,459,312 (GRCm39) R317G probably benign Het
B130006D01Rik T A 11: 95,616,992 (GRCm39) probably benign Het
Brinp2 T C 1: 158,074,379 (GRCm39) T581A probably damaging Het
Cacna1b A T 2: 24,548,540 (GRCm39) I1179N probably damaging Het
Cacnb3 A G 15: 98,541,301 (GRCm39) D434G probably damaging Het
Cdh19 T C 1: 110,847,341 (GRCm39) T423A possibly damaging Het
Chkb C T 15: 89,311,986 (GRCm39) probably benign Het
Cit T C 5: 116,071,913 (GRCm39) Y623H probably benign Het
Clstn3 G A 6: 124,408,559 (GRCm39) R918C possibly damaging Het
Dnah2 T A 11: 69,406,906 (GRCm39) M200L probably benign Het
Dnah9 T A 11: 65,838,506 (GRCm39) H3097L probably benign Het
Dst T A 1: 34,314,401 (GRCm39) L4217H probably damaging Het
Fam107b T A 2: 3,779,565 (GRCm39) L80Q probably damaging Het
Fgfr1 T A 8: 26,045,595 (GRCm39) C55S probably damaging Het
Igkv4-71 C A 6: 69,220,264 (GRCm39) G78* probably null Het
Igsf10 A G 3: 59,237,452 (GRCm39) S910P probably benign Het
Ikzf3 T C 11: 98,407,718 (GRCm39) D41G probably damaging Het
Larp1 T A 11: 57,933,648 (GRCm39) I358N possibly damaging Het
Marchf5 C T 19: 37,188,067 (GRCm39) probably benign Het
Mpdz T C 4: 81,287,895 (GRCm39) T455A probably damaging Het
Myo1b A G 1: 51,815,510 (GRCm39) V612A possibly damaging Het
Nipbl T C 15: 8,380,023 (GRCm39) D923G probably benign Het
Nlrp4b T C 7: 10,448,918 (GRCm39) F7L probably damaging Het
Npas4 T C 19: 5,037,355 (GRCm39) N313S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5 T A 9: 39,861,921 (GRCm39) T49S probably benign Het
Or13a22 A G 7: 140,072,751 (GRCm39) N67D probably damaging Het
Or4c107 T C 2: 88,788,885 (GRCm39) V25A probably benign Het
Pclo T C 5: 14,589,647 (GRCm39) V649A unknown Het
Pom121 A G 5: 135,421,389 (GRCm39) probably benign Het
Ptcd2 A T 13: 99,466,521 (GRCm39) I224N possibly damaging Het
Rsrp1 C T 4: 134,651,290 (GRCm39) P18L unknown Het
Sash1 A T 10: 8,605,422 (GRCm39) N989K probably damaging Het
Scn2a T A 2: 65,546,219 (GRCm39) H927Q probably benign Het
Selenoi G T 5: 30,461,222 (GRCm39) V128F probably damaging Het
Slc25a42 T C 8: 70,642,092 (GRCm39) I117V probably benign Het
Sptlc3 A T 2: 139,431,615 (GRCm39) Y379F possibly damaging Het
Tent4a A T 13: 69,648,678 (GRCm39) S693T probably benign Het
Tinag C T 9: 76,952,885 (GRCm39) R33K probably benign Het
Trappc8 T C 18: 20,968,061 (GRCm39) D1092G probably benign Het
Xntrpc A G 7: 101,722,401 (GRCm39) E22G probably damaging Het
Zbtb7b A G 3: 89,287,278 (GRCm39) M397T possibly damaging Het
Zgpat A G 2: 181,020,682 (GRCm39) D285G probably benign 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
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
R2851:Spata1 UTSW 3 146,193,295 (GRCm39) missense possibly damaging 0.96
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
Posted On 2013-12-03