Incidental Mutation 'R8417:Preb'
| ID |
652988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Preb
|
| Ensembl Gene |
ENSMUSG00000045302 |
| Gene Name |
prolactin regulatory element binding |
| Synonyms |
|
| MMRRC Submission |
067771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R8417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 31117461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074840]
[ENSMUST00000202567]
|
| AlphaFold |
Q9WUQ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074840
|
| SMART Domains |
Protein: ENSMUSP00000074387
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 |
|
Blast:WD40
|
332 |
382 |
5e-26 |
BLAST |
|
transmembrane domain
|
391 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201002
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
| Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
| Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
| Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
| Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
| Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
| Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
| Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
| Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
| Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
| Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
| Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
| Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
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 |
|
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 |
|
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'- TATAACCTGTTCTCAGTGGCC -3'
(R):5'- TCATCGTCATTCGGGGCTAG -3'
Sequencing Primer
(F):5'- TGTTCTCAGTGGCCCTGCG -3'
(R):5'- GCACTGAACGCCTGCAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation