Incidental Mutation 'IGL03383:Preb'
ID |
420772 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Preb
|
Ensembl Gene |
ENSMUSG00000045302 |
Gene Name |
prolactin regulatory element binding |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.948)
|
Stock # |
IGL03383
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31115665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 222
(W222R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074840]
[ENSMUST00000202567]
|
AlphaFold |
Q9WUQ2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000006814
|
SMART Domains |
Protein: ENSMUSP00000143649 Gene: ENSMUSG00000006638
Domain | Start | End | E-Value | Type |
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: W222R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074387 Gene: ENSMUSG00000045302 AA Change: W222R
Domain | Start | End | E-Value | Type |
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 |
unknown
Transcript: ENSMUST00000201002
AA Change: W48R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201214
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202567
AA Change: W222R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144263 Gene: ENSMUSG00000045302 AA Change: W222R
Domain | Start | End | E-Value | Type |
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: ENSMUST00000202593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202472
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202401
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201730
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201821
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
Other mutations in Preb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Preb
|
APN |
5 |
31,113,308 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01344:Preb
|
APN |
5 |
31,113,388 (GRCm39) |
missense |
probably damaging |
0.99 |
R1520:Preb
|
UTSW |
5 |
31,115,868 (GRCm39) |
missense |
probably benign |
0.14 |
R1987:Preb
|
UTSW |
5 |
31,116,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Preb
|
UTSW |
5 |
31,115,849 (GRCm39) |
missense |
probably damaging |
0.99 |
R5607:Preb
|
UTSW |
5 |
31,117,307 (GRCm39) |
splice site |
probably benign |
|
R5769:Preb
|
UTSW |
5 |
31,115,635 (GRCm39) |
nonsense |
probably null |
|
R5831:Preb
|
UTSW |
5 |
31,116,208 (GRCm39) |
missense |
probably benign |
|
R6271:Preb
|
UTSW |
5 |
31,115,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R6539:Preb
|
UTSW |
5 |
31,113,420 (GRCm39) |
missense |
probably benign |
0.03 |
R7575:Preb
|
UTSW |
5 |
31,115,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Preb
|
UTSW |
5 |
31,116,109 (GRCm39) |
missense |
probably benign |
0.05 |
R8417:Preb
|
UTSW |
5 |
31,117,461 (GRCm39) |
start gained |
probably benign |
|
R8515:Preb
|
UTSW |
5 |
31,116,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Preb
|
UTSW |
5 |
31,115,671 (GRCm39) |
missense |
probably damaging |
0.96 |
R9037:Preb
|
UTSW |
5 |
31,116,590 (GRCm39) |
missense |
probably benign |
0.00 |
R9062:Preb
|
UTSW |
5 |
31,116,196 (GRCm39) |
missense |
probably benign |
0.00 |
R9332:Preb
|
UTSW |
5 |
31,113,673 (GRCm39) |
nonsense |
probably null |
|
R9348:Preb
|
UTSW |
5 |
31,112,995 (GRCm39) |
missense |
probably benign |
0.19 |
R9745:Preb
|
UTSW |
5 |
31,116,732 (GRCm39) |
missense |
probably benign |
|
X0065:Preb
|
UTSW |
5 |
31,116,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |