Incidental Mutation 'R6539:Preb'
| ID |
520578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Preb
|
| Ensembl Gene |
ENSMUSG00000045302 |
| Gene Name |
prolactin regulatory element binding |
| Synonyms |
|
| MMRRC Submission |
044665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31113420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
| 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 benign
Transcript: ENSMUST00000074840
AA Change: V338A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: V338A
| 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: ENSMUST00000202590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201339
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000202904
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202401
|
| Meta Mutation Damage Score |
0.1098 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,272,616 (GRCm39) |
A513V |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,937,127 (GRCm39) |
D147G |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,913,924 (GRCm39) |
D649G |
probably damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,251,606 (GRCm39) |
I329V |
probably benign |
Het |
| Card6 |
T |
A |
15: 5,134,873 (GRCm39) |
N110I |
probably damaging |
Het |
| Cfap410 |
A |
G |
10: 77,820,322 (GRCm39) |
T231A |
probably benign |
Het |
| Chn2 |
T |
A |
6: 54,150,446 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
G |
A |
12: 108,319,416 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
A |
17: 49,776,739 (GRCm39) |
H782L |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,262 (GRCm39) |
I22V |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,245 (GRCm39) |
M278V |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,159,478 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
T |
A |
2: 24,694,779 (GRCm39) |
H1056L |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,040,218 (GRCm39) |
D527N |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,515,186 (GRCm39) |
K1079E |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,592,206 (GRCm39) |
G231R |
probably benign |
Het |
| Gm4924 |
T |
A |
10: 82,214,358 (GRCm39) |
|
probably benign |
Het |
| Ifrd1 |
G |
A |
12: 40,253,434 (GRCm39) |
A426V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,313,643 (GRCm39) |
L1358P |
possibly damaging |
Het |
| Igkv5-37 |
A |
T |
6: 69,940,800 (GRCm39) |
S16T |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,778,966 (GRCm39) |
L449P |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,986,863 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
T |
6: 60,964,168 (GRCm39) |
T1056S |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,935,056 (GRCm39) |
H164Y |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,548,621 (GRCm39) |
T5891A |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,021,565 (GRCm39) |
E62G |
possibly damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,789 (GRCm38) |
V475D |
possibly damaging |
Het |
| Or4c101 |
T |
C |
2: 88,389,864 (GRCm39) |
F6S |
probably damaging |
Het |
| Or5ac15 |
A |
C |
16: 58,940,114 (GRCm39) |
S106R |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Parvg |
T |
A |
15: 84,225,541 (GRCm39) |
D349E |
probably damaging |
Het |
| Pitpna |
A |
G |
11: 75,489,127 (GRCm39) |
Y58C |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,168,503 (GRCm39) |
D73E |
probably benign |
Het |
| Sec23a |
T |
C |
12: 59,031,998 (GRCm39) |
T411A |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,347,011 (GRCm39) |
|
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,950,177 (GRCm39) |
M1056T |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,447,813 (GRCm39) |
|
probably null |
Het |
| Tent5a |
T |
C |
9: 85,208,614 (GRCm39) |
I70V |
possibly damaging |
Het |
| Tpx2 |
G |
T |
2: 152,718,518 (GRCm39) |
E174* |
probably null |
Het |
| Trpc4ap |
G |
T |
2: 155,478,178 (GRCm39) |
P663T |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,045 (GRCm39) |
G441D |
probably damaging |
Het |
| Xrcc2 |
G |
T |
5: 25,897,530 (GRCm39) |
R140S |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,247,907 (GRCm39) |
E1037K |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,309,168 (GRCm39) |
Q798L |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,716 (GRCm39) |
T236M |
probably 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 |
|
IGL01344:Preb
|
APN |
5 |
31,113,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGTGGTACCCTCCCTGC -3'
(R):5'- GCTCTGTCGCCATCTACATAGC -3'
Sequencing Primer
(F):5'- GGTACCCTCCCTGCCAACAC -3'
(R):5'- CCAGGTAATGGCAGCGGTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation