Incidental Mutation 'IGL02653:Spert'
ID302249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spert
Ensembl Gene ENSMUSG00000034913
Gene Namespermatid associated
Synonyms1700086N05Rik, Nurit
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02653
Quality Score
Status
Chromosome14
Chromosomal Location75582877-75593116 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75583157 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 385 (D385G)
Ref Sequence ENSEMBL: ENSMUSP00000129616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]
Predicted Effect probably damaging
Transcript: ENSMUST00000035243
AA Change: D376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913
AA Change: D376G

DomainStartEndE-ValueType
Pfam:Chibby 40 176 1e-13 PFAM
coiled coil region 200 228 N/A INTRINSIC
coiled coil region 317 361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164082
AA Change: D412G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: D412G

DomainStartEndE-ValueType
Pfam:Chibby 77 200 4.9e-15 PFAM
coiled coil region 236 264 N/A INTRINSIC
coiled coil region 353 397 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165569
AA Change: D334G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913
AA Change: D334G

DomainStartEndE-ValueType
Pfam:Chibby 1 135 2.1e-13 PFAM
coiled coil region 158 186 N/A INTRINSIC
coiled coil region 275 319 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169658
AA Change: D385G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913
AA Change: D385G

DomainStartEndE-ValueType
Pfam:Chibby 49 185 2.4e-14 PFAM
coiled coil region 209 237 N/A INTRINSIC
coiled coil region 326 370 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Lnpk A G 2: 74,548,048 V123A probably damaging Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Pwwp2a A G 11: 43,706,035 T676A possibly damaging Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Tbc1d7 T C 13: 43,165,398 I88V probably benign Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Tspear T A 10: 77,706,965 probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Wnt1 G A 15: 98,792,455 G222R probably damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Spert
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Spert APN 14 75592645 missense possibly damaging 0.69
IGL01556:Spert APN 14 75584111 missense probably damaging 1.00
IGL03366:Spert APN 14 75583389 missense probably benign 0.01
R0071:Spert UTSW 14 75584181 missense probably benign 0.00
R1645:Spert UTSW 14 75583649 missense probably benign 0.12
R1738:Spert UTSW 14 75593057 start codon destroyed probably null 0.98
R1844:Spert UTSW 14 75583410 missense probably benign 0.12
R4773:Spert UTSW 14 75583106 missense probably damaging 1.00
R4857:Spert UTSW 14 75593038 missense probably damaging 1.00
R5201:Spert UTSW 14 75584009 missense probably damaging 1.00
R5274:Spert UTSW 14 75583226 missense probably benign 0.00
R5880:Spert UTSW 14 75583803 missense probably benign 0.02
R6915:Spert UTSW 14 75592658 missense probably benign 0.37
R7399:Spert UTSW 14 75592637 missense probably benign 0.00
R8054:Spert UTSW 14 75583899 missense probably benign 0.00
R8062:Spert UTSW 14 75592606 missense probably benign 0.13
X0023:Spert UTSW 14 75583134 missense probably damaging 1.00
Posted On2015-04-16