Incidental Mutation 'IGL02898:Spata1'
ID363491
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: 0.093) question?
Stock #IGL02898
Quality Score
Status
Chromosome3
Chromosomal Location146457196-146499753 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 146475339 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 288 (R288Q)
Ref Sequence ENSEMBL: ENSMUSP00000142800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029839] [ENSMUST00000195949] [ENSMUST00000197980]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029839
AA Change: R288Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029839
Gene: ENSMUSG00000028188
AA Change: R288Q

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 noncoding transcript
Transcript: ENSMUST00000123421
Predicted Effect probably benign
Transcript: ENSMUST00000195949
SMART Domains Protein: ENSMUSP00000143495
Gene: ENSMUSG00000028188

DomainStartEndE-ValueType
Pfam:SPATA1_C 11 137 1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197684
Predicted Effect possibly damaging
Transcript: ENSMUST00000197980
AA Change: R288Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142800
Gene: ENSMUSG00000028188
AA Change: R288Q

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,342,231 probably benign Het
Brd3 A G 2: 27,459,741 S267P possibly damaging Het
Btaf1 A G 19: 36,969,068 T425A probably benign Het
Caskin1 A T 17: 24,502,409 E544D probably benign Het
Col20a1 C T 2: 180,989,112 Q58* probably null Het
Eif2ak1 G A 5: 143,889,452 V428I probably damaging Het
Fez2 A G 17: 78,384,755 I345T probably benign Het
Focad A T 4: 88,391,997 M1388L probably benign Het
Gfer T C 17: 24,695,947 R41G probably benign Het
Gm6614 T A 6: 141,994,297 Y140F probably benign Het
Gm9956 C T 10: 56,745,254 S4L unknown Het
Krtap6-1 G A 16: 89,031,755 G13D unknown Het
Megf8 A G 7: 25,346,508 E1492G possibly damaging Het
Myh7 T C 14: 54,983,740 I909V probably damaging Het
Olfr380 T A 11: 73,453,735 H159L probably damaging Het
Olfr741 T A 14: 50,486,186 S243T probably damaging Het
Otog A G 7: 46,310,138 E717G probably damaging Het
Pik3r4 A G 9: 105,650,406 I319M probably benign Het
Piwil4 A T 9: 14,706,287 probably benign Het
Plekho1 T A 3: 95,992,181 H100L probably damaging Het
Prr30 T G 14: 101,198,481 D215A probably benign Het
Prss52 C T 14: 64,113,666 A300V possibly damaging Het
Ralgps2 C A 1: 156,817,744 K514N probably benign Het
Robo4 T C 9: 37,408,176 I463T probably damaging Het
Sars A T 3: 108,429,263 F268Y probably damaging Het
Sidt1 C T 16: 44,282,495 R289Q possibly damaging Het
Slco2a1 T C 9: 103,079,606 V539A probably damaging Het
Snrnp200 A G 2: 127,216,756 probably benign Het
Spag17 A G 3: 100,101,386 D1944G probably benign Het
Tatdn3 T C 1: 191,046,310 *233W probably null Het
Ttc3 T A 16: 94,419,426 V536E probably damaging Het
V1rd19 A C 7: 24,003,429 T107P probably damaging 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
IGL01537:Spata1 APN 3 146489803 splice site probably benign
IGL02363:Spata1 APN 3 146487364 missense possibly damaging 0.96
IGL02873:Spata1 APN 3 146487367 missense possibly damaging 0.86
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
R7997:Spata1 UTSW 3 146476280 missense not run
Posted On2015-12-18