Incidental Mutation 'IGL01537:Spata1'
ID90023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata1
Ensembl Gene ENSMUSG00000028188
Gene Namespermatogenesis associated 1
SynonymsSP-2, 4921536I21Rik
Accession Numbers

Genbank: NM_027617

Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01537
Quality Score
Status
Chromosome3
Chromosomal Location146457196-146499753 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 146489803 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000093951] [ENSMUST00000197980]
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: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Slc25a42 T C 8: 70,189,442 I117V probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Spata1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Spata1 APN 3 146476242 missense possibly damaging 0.94
IGL01306:Spata1 APN 3 146487399 nonsense probably null
IGL02363:Spata1 APN 3 146487364 missense possibly damaging 0.96
IGL02873:Spata1 APN 3 146487367 missense possibly damaging 0.86
IGL02898:Spata1 APN 3 146475339 missense possibly damaging 0.71
IGL03071:Spata1 APN 3 146475334 missense possibly damaging 0.93
IGL03204:Spata1 APN 3 146488679 missense probably benign 0.18
ANU23:Spata1 UTSW 3 146487399 nonsense probably null
H8930:Spata1 UTSW 3 146487271 nonsense probably null
R0414:Spata1 UTSW 3 146476188 splice site probably null
R1109:Spata1 UTSW 3 146475298 missense possibly damaging 0.51
R1742:Spata1 UTSW 3 146469623 critical splice donor site probably null
R1816:Spata1 UTSW 3 146481207 missense probably damaging 0.98
R2006:Spata1 UTSW 3 146493683 missense probably benign 0.18
R2851:Spata1 UTSW 3 146487540 missense possibly damaging 0.96
R2852:Spata1 UTSW 3 146487540 missense possibly damaging 0.96
R3416:Spata1 UTSW 3 146487508 splice site probably benign
R3911:Spata1 UTSW 3 146475324 missense probably damaging 0.99
R4856:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R4859:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R4886:Spata1 UTSW 3 146469774 missense probably damaging 0.99
R6902:Spata1 UTSW 3 146475323 missense possibly damaging 0.77
R7459:Spata1 UTSW 3 146476222 missense possibly damaging 0.86
R7532:Spata1 UTSW 3 146468191 missense possibly damaging 0.86
Posted On2013-12-03