Incidental Mutation 'IGL00662:Spata17'
ID14201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata17
Ensembl Gene ENSMUSG00000026611
Gene Namespermatogenesis associated 17
Synonyms1700065F16Rik, 4930504I07Rik, 4930513F16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00662
Quality Score
Status
Chromosome1
Chromosomal Location187044648-187215465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 187117339 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 124 (N124S)
Ref Sequence ENSEMBL: ENSMUSP00000139329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027908] [ENSMUST00000183819] [ENSMUST00000183931] [ENSMUST00000183996]
Predicted Effect probably benign
Transcript: ENSMUST00000027908
AA Change: N233S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: N233S

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159848
AA Change: N233S

PolyPhen 2 Score 0.000 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123771
Gene: ENSMUSG00000026611
AA Change: N233S

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162615
Predicted Effect probably benign
Transcript: ENSMUST00000183819
AA Change: N233S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: N233S

DomainStartEndE-ValueType
IQ 47 69 5.27e0 SMART
IQ 70 92 1.77e-2 SMART
IQ 106 128 1.4e1 SMART
coiled coil region 133 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183931
AA Change: N124S

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: N124S

DomainStartEndE-ValueType
low complexity region 39 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183996
AA Change: N77S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: N77S

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,289,896 N587S probably benign Het
Bcar3 C T 3: 122,512,936 A186V probably benign Het
Bcr A T 10: 75,168,100 probably benign Het
Cd207 A G 6: 83,675,926 I74T possibly damaging Het
Cenpn T C 8: 116,928,587 probably null Het
Chuk A T 19: 44,097,210 F228I possibly damaging Het
Cmss1 T C 16: 57,303,729 D233G probably damaging Het
Copg1 C T 6: 87,902,370 T466I possibly damaging Het
Ctsll3 A G 13: 60,798,942 S288P probably benign Het
Ddx58 A G 4: 40,220,389 probably benign Het
Fat3 T A 9: 15,996,427 I2760F possibly damaging Het
Gpi1 A G 7: 34,215,950 probably benign Het
Il18rap C T 1: 40,541,921 R318C probably benign Het
Kcnk9 A G 15: 72,546,075 S69P probably benign Het
Kctd18 T C 1: 57,956,738 T127A probably damaging Het
Khk T C 5: 30,929,675 probably benign Het
Ncapg T A 5: 45,693,160 S703T possibly damaging Het
Nup98 T A 7: 102,194,987 N47I probably damaging Het
Rad1 A G 15: 10,490,409 N154S probably benign Het
Slc35f5 T A 1: 125,587,424 L438H probably damaging Het
Slc7a2 A G 8: 40,905,622 Y334C possibly damaging Het
Tfap2c T C 2: 172,551,518 Y118H probably damaging Het
Tnpo3 A T 6: 29,565,846 L503* probably null Het
Utrn C T 10: 12,664,961 E1907K probably damaging Het
Vav3 T A 3: 109,528,392 probably benign Het
Vps13a T A 19: 16,704,540 K1033I probably damaging Het
Zfp202 A G 9: 40,211,043 N367S probably benign Het
Other mutations in Spata17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02101:Spata17 APN 1 187117460 missense probably benign 0.40
IGL02268:Spata17 APN 1 187140398 missense probably damaging 0.97
IGL02406:Spata17 APN 1 187117261 critical splice donor site probably null
IGL02429:Spata17 APN 1 187140434 missense possibly damaging 0.66
IGL03333:Spata17 APN 1 187140470 start codon destroyed probably null
R0147:Spata17 UTSW 1 187112601 missense probably damaging 1.00
R0148:Spata17 UTSW 1 187112601 missense probably damaging 1.00
R0269:Spata17 UTSW 1 187097872 missense probably benign 0.02
R1521:Spata17 UTSW 1 187193994 missense probably damaging 0.96
R1620:Spata17 UTSW 1 187183215 intron probably benign
R2017:Spata17 UTSW 1 187048453 missense possibly damaging 0.73
R2113:Spata17 UTSW 1 187097911 missense possibly damaging 0.93
R2251:Spata17 UTSW 1 187048473 missense possibly damaging 0.96
R4260:Spata17 UTSW 1 187048480 missense possibly damaging 0.53
R4572:Spata17 UTSW 1 187193996 missense possibly damaging 0.91
R4894:Spata17 UTSW 1 187140446 missense probably benign 0.00
R4910:Spata17 UTSW 1 187194011 missense probably damaging 0.98
R6277:Spata17 UTSW 1 187193954 nonsense probably null
V7732:Spata17 UTSW 1 187048480 missense possibly damaging 0.53
X0027:Spata17 UTSW 1 187193959 missense probably damaging 0.97
Posted On2012-12-06