Incidental Mutation 'IGL01344:Preb'
| ID |
74993 |
| 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 # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31113388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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: V349M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: V349M
| 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 |
probably benign
Transcript: ENSMUST00000201002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201821
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202567
|
| SMART Domains |
Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
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 |
|
IGL03383:Preb
|
APN |
5 |
31,115,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation