Incidental Mutation 'IGL01304:Spert'
ID73349
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: 0.114) question?
Stock #IGL01304
Quality Score
Status
Chromosome14
Chromosomal Location75582877-75593116 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 75592645 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 36 (D36V)
Ref Sequence ENSEMBL: ENSMUSP00000127439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035243] [ENSMUST00000164082] [ENSMUST00000165569] [ENSMUST00000169658]
Predicted Effect probably benign
Transcript: ENSMUST00000035243
SMART Domains Protein: ENSMUSP00000046259
Gene: ENSMUSG00000034913

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 possibly damaging
Transcript: ENSMUST00000164082
AA Change: D36V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127439
Gene: ENSMUSG00000034913
AA Change: D36V

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 benign
Transcript: ENSMUST00000165569
SMART Domains Protein: ENSMUSP00000131347
Gene: ENSMUSG00000034913

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 benign
Transcript: ENSMUST00000169658
SMART Domains Protein: ENSMUSP00000129616
Gene: ENSMUSG00000034913

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226623
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Spert
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01556:Spert APN 14 75584111 missense probably damaging 1.00
IGL02653:Spert APN 14 75583157 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 On2013-10-07