Incidental Mutation 'IGL02422:Spata32'
ID292721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spata32
Ensembl Gene ENSMUSG00000044787
Gene Namespermatogenesis associated 32
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.020) question?
Stock #IGL02422
Quality Score
Status
Chromosome11
Chromosomal Location103208127-103218432 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103208880 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 266 (N266K)
Ref Sequence ENSEMBL: ENSMUSP00000099365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000103076] [ENSMUST00000107026] [ENSMUST00000172850] [ENSMUST00000174567]
Predicted Effect probably benign
Transcript: ENSMUST00000021323
SMART Domains Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 7.23e1 SMART
EFh 145 173 6.68e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103076
AA Change: N266K

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099365
Gene: ENSMUSG00000044787
AA Change: N266K

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
Pfam:VAD1-2 106 332 3e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107026
SMART Domains Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 40 68 7.23e1 SMART
EFh 76 104 6.68e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect probably benign
Transcript: ENSMUST00000172850
SMART Domains Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 3.5e-1 SMART
EFh 145 173 3.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174567
SMART Domains Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
SCOP:d1mr8a_ 153 209 5e-8 SMART
Blast:EFh 159 187 4e-12 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Rpl3l C A 17: 24,733,988 Y307* probably null Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Spata32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02712:Spata32 APN 11 103208147 intron probably benign
IGL02966:Spata32 APN 11 103208803 missense possibly damaging 0.89
IGL03178:Spata32 APN 11 103210762 missense probably benign
R0245:Spata32 UTSW 11 103209095 missense probably damaging 0.99
R0454:Spata32 UTSW 11 103209299 missense probably damaging 1.00
R1773:Spata32 UTSW 11 103208818 missense probably damaging 1.00
R1881:Spata32 UTSW 11 103210735 unclassified probably benign
R3545:Spata32 UTSW 11 103210744 missense possibly damaging 0.67
R5485:Spata32 UTSW 11 103209296 missense probably damaging 0.96
R5576:Spata32 UTSW 11 103209827 missense possibly damaging 0.87
Posted On2015-04-16