Incidental Mutation 'IGL02429:Spata17'
ID293033
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: 0.066) question?
Stock #IGL02429
Quality Score
Status
Chromosome1
Chromosomal Location187044648-187215465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 187140434 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 60 (R60L)
Ref Sequence ENSEMBL: ENSMUSP00000139329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027908] [ENSMUST00000110945] [ENSMUST00000183819] [ENSMUST00000183931] [ENSMUST00000183996] [ENSMUST00000184543]
Predicted Effect probably benign
Transcript: ENSMUST00000027908
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: R169L

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: ENSMUST00000110945
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
AA Change: R169L

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: ENSMUST00000183656
Predicted Effect probably benign
Transcript: ENSMUST00000183819
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: R169L

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 possibly damaging
Transcript: ENSMUST00000183931
AA Change: R60L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: R60L

DomainStartEndE-ValueType
low complexity region 39 63 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000183996
AA Change: R13L
SMART Domains Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: R13L

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000184543
AA Change: R13L
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Spata17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Spata17 APN 1 187117339 missense probably benign 0.34
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
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 On2015-04-16