Incidental Mutation 'IGL02736:Spata3'
ID305674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata3
Ensembl Gene ENSMUSG00000026226
Gene Namespermatogenesis associated 3
Synonyms1700029H01Rik, TSARG1, 1700011N12Rik, 4930424D10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02736
Quality Score
Status
Chromosome1
Chromosomal Location86016816-86029958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86024435 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 136 (V136A)
Ref Sequence ENSEMBL: ENSMUSP00000116903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052854] [ENSMUST00000113344] [ENSMUST00000125083] [ENSMUST00000130504] [ENSMUST00000135440] [ENSMUST00000149469] [ENSMUST00000152501] [ENSMUST00000153247] [ENSMUST00000159876]
Predicted Effect unknown
Transcript: ENSMUST00000052854
AA Change: V137A
SMART Domains Protein: ENSMUSP00000050509
Gene: ENSMUSG00000026226
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
low complexity region 169 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113344
AA Change: V136A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108971
Gene: ENSMUSG00000026226
AA Change: V136A

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 107 122 N/A INTRINSIC
low complexity region 168 190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125083
SMART Domains Protein: ENSMUSP00000120768
Gene: ENSMUSG00000026226

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129169
Predicted Effect probably damaging
Transcript: ENSMUST00000130504
AA Change: V136A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116903
Gene: ENSMUSG00000026226
AA Change: V136A

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 107 122 N/A INTRINSIC
low complexity region 168 190 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000131151
AA Change: V117A
SMART Domains Protein: ENSMUSP00000123844
Gene: ENSMUSG00000026226
AA Change: V117A

DomainStartEndE-ValueType
Pfam:SPATA3 1 173 8.4e-85 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135440
AA Change: V137A
SMART Domains Protein: ENSMUSP00000123587
Gene: ENSMUSG00000026226
AA Change: V137A

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000149469
AA Change: V277A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000152501
AA Change: V136A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123194
Gene: ENSMUSG00000026226
AA Change: V136A

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 107 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153247
SMART Domains Protein: ENSMUSP00000117650
Gene: ENSMUSG00000026226

DomainStartEndE-ValueType
low complexity region 2 52 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
transmembrane domain 113 135 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000159876
AA Change: V137A
SMART Domains Protein: ENSMUSP00000124671
Gene: ENSMUSG00000026226
AA Change: V137A

DomainStartEndE-ValueType
Pfam:SPATA3 1 192 1.1e-95 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Dapk2 T A 9: 66,268,916 M333K probably benign Het
Decr1 T A 4: 15,930,952 T127S probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Ighv1-4 A G 12: 114,487,252 Y79H probably benign Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mgarp C A 3: 51,396,445 A36S possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
St6galnac6 G A 2: 32,614,971 R129H probably benign Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in Spata3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01632:Spata3 APN 1 86022308 missense possibly damaging 0.51
IGL02553:Spata3 APN 1 86024489 missense probably damaging 1.00
PIT4696001:Spata3 UTSW 1 86024447 missense unknown
R1930:Spata3 UTSW 1 86022061 intron probably benign
R1931:Spata3 UTSW 1 86022061 intron probably benign
R4472:Spata3 UTSW 1 86026430 missense probably benign 0.05
R4579:Spata3 UTSW 1 86026453 missense probably damaging 0.97
R4824:Spata3 UTSW 1 86024326 critical splice acceptor site probably null
R7823:Spata3 UTSW 1 86022059 intron probably benign
R8062:Spata3 UTSW 1 86024426 missense unknown
R8123:Spata3 UTSW 1 86024353 missense unknown
R8124:Spata3 UTSW 1 86024353 missense unknown
R8125:Spata3 UTSW 1 86024353 missense unknown
R8126:Spata3 UTSW 1 86024353 missense unknown
Posted On2015-04-16