Incidental Mutation 'IGL01344:Preb'
ID74993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Preb
Ensembl Gene ENSMUSG00000045302
Gene Nameprolactin regulatory element binding
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.946) question?
Stock #IGL01344
Quality Score
Status
Chromosome5
Chromosomal Location30950853-30960361 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 30956044 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 349 (V349M)
Ref Sequence ENSEMBL: ENSMUSP00000074387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000006814
SMART Domains Protein: ENSMUSP00000143649
Gene: ENSMUSG00000006638

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Hydrolase_4 127 371 1.3e-9 PFAM
Pfam:Abhydrolase_1 131 373 1.4e-12 PFAM
Pfam:Abhydrolase_5 132 367 2.8e-8 PFAM
Pfam:Abhydrolase_6 133 377 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074840
AA Change: V349M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: V349M

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 99 114 N/A INTRINSIC
WD40 143 182 4.48e-2 SMART
WD40 185 223 4.88e-3 SMART
WD40 289 328 4.42e1 SMART
Blast:WD40 332 382 5e-26 BLAST
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200836
Predicted Effect probably benign
Transcript: ENSMUST00000201002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201730
Predicted Effect probably benign
Transcript: ENSMUST00000201821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202472
Predicted Effect probably benign
Transcript: ENSMUST00000202567
SMART Domains Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 99 114 N/A INTRINSIC
WD40 143 182 4.48e-2 SMART
WD40 185 223 4.88e-3 SMART
WD40 289 328 4.42e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202930
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Aak1 A G 6: 86,946,157 K237R possibly damaging Het
Antxrl A C 14: 34,075,597 M510L probably benign Het
Bdp1 T C 13: 100,078,080 D417G probably benign Het
C3 T G 17: 57,224,880 N250T probably benign Het
Cacna2d1 T A 5: 16,370,631 I1073K probably benign Het
Ccin A T 4: 43,984,069 N159Y probably damaging Het
Cep76 T C 18: 67,623,397 T455A possibly damaging Het
Chaf1a T A 17: 56,064,104 V663E probably damaging Het
Chit1 T C 1: 134,151,314 F454S probably damaging Het
Clasp2 A G 9: 113,813,292 probably null Het
Ctcfl G T 2: 173,094,734 A615E possibly damaging Het
Ddx58 G A 4: 40,208,883 T698I probably damaging Het
Edaradd T C 13: 12,478,490 D107G probably damaging Het
Efl1 T C 7: 82,681,480 probably benign Het
Eps15l1 A G 8: 72,382,325 probably null Het
Fahd2a T C 2: 127,442,067 K18E probably benign Het
Fam166a A T 2: 25,220,333 I86F possibly damaging Het
Fbxl20 A T 11: 98,100,100 C147* probably null Het
Gsap G T 5: 21,242,883 probably null Het
Gtse1 A T 15: 85,862,066 probably null Het
Kcp A T 6: 29,498,951 probably null Het
Llgl2 A G 11: 115,851,193 D687G probably benign Het
Mcpt8 T A 14: 56,083,945 I21F probably damaging Het
Met C A 6: 17,547,032 S888Y probably benign Het
Mkl1 T C 15: 81,016,302 T663A probably damaging Het
Ngf A G 3: 102,520,312 T130A probably benign Het
Otud7b T A 3: 96,150,980 probably benign Het
Prmt1 G T 7: 44,977,635 probably benign Het
Psg27 T C 7: 18,560,417 D355G probably damaging Het
Ptprt T A 2: 161,551,817 D1209V probably damaging Het
Sh3bp4 A G 1: 89,153,236 N925S probably benign Het
Skint3 T A 4: 112,290,322 M414K possibly damaging Het
Skor1 A T 9: 63,142,278 S787R possibly damaging Het
Slc12a7 T A 13: 73,792,737 I288N probably damaging Het
Smg1 A G 7: 118,190,836 probably benign Het
Tpp2 C T 1: 43,983,262 T940I probably benign Het
Trappc11 A T 8: 47,519,704 I278N probably damaging Het
Umodl1 G A 17: 30,996,264 V1021I probably damaging Het
Usp24 T C 4: 106,379,385 S1059P possibly damaging Het
Other mutations in Preb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Preb APN 5 30955964 missense probably damaging 1.00
IGL03383:Preb APN 5 30958321 missense probably damaging 1.00
R1520:Preb UTSW 5 30958524 missense probably benign 0.14
R1987:Preb UTSW 5 30958813 missense probably damaging 1.00
R2327:Preb UTSW 5 30958505 missense probably damaging 0.99
R5607:Preb UTSW 5 30959963 splice site probably benign
R5769:Preb UTSW 5 30958291 nonsense probably null
R5831:Preb UTSW 5 30958864 missense probably benign
R6271:Preb UTSW 5 30958051 missense probably damaging 0.99
R6539:Preb UTSW 5 30956076 missense probably benign 0.03
R7575:Preb UTSW 5 30958495 missense probably damaging 1.00
R7873:Preb UTSW 5 30958765 missense probably benign 0.05
R7956:Preb UTSW 5 30958765 missense probably benign 0.05
X0065:Preb UTSW 5 30958936 missense probably benign 0.01
Posted On2013-10-07