Incidental Mutation 'R5831:Preb'
| ID |
449306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Preb
|
| Ensembl Gene |
ENSMUSG00000045302 |
| Gene Name |
prolactin regulatory element binding |
| Synonyms |
|
| MMRRC Submission |
043220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R5831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31116208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 133
(H133R)
|
| 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 benign
Transcript: ENSMUST00000074840
AA Change: H133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: H133R
| 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: ENSMUST00000125524
AA Change: H26R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125986
AA Change: H207R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202567
AA Change: H133R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: H133R
| 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: ENSMUST00000202930
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201821
AA Change: H28R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202013
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,517,777 (GRCm39) |
K4460* |
probably null |
Het |
| Adam21 |
A |
G |
12: 81,605,875 (GRCm39) |
V629A |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,006 (GRCm39) |
V653I |
probably damaging |
Het |
| Adarb2 |
G |
A |
13: 8,609,169 (GRCm39) |
A44T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,132,808 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,024 (GRCm39) |
Y833C |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,820,636 (GRCm39) |
S1297P |
probably damaging |
Het |
| Cdc25b |
G |
T |
2: 131,029,301 (GRCm39) |
|
probably null |
Het |
| Ciart |
A |
T |
3: 95,786,214 (GRCm39) |
V287D |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,213,650 (GRCm39) |
F353S |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,119,592 (GRCm39) |
E1717K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,421,611 (GRCm39) |
K82R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,998,947 (GRCm39) |
T1034S |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,714,332 (GRCm39) |
E1837G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,900,019 (GRCm39) |
S110T |
possibly damaging |
Het |
| Flg2 |
G |
A |
3: 93,107,541 (GRCm39) |
V9I |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,988,918 (GRCm39) |
T602S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,440,117 (GRCm39) |
E1015G |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,232,763 (GRCm39) |
F201L |
probably damaging |
Het |
| Isoc2b |
C |
A |
7: 4,854,023 (GRCm39) |
L116F |
probably null |
Het |
| Loxl3 |
A |
T |
6: 83,025,999 (GRCm39) |
T416S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,746,798 (GRCm39) |
*960W |
probably null |
Het |
| Morn1 |
A |
G |
4: 155,185,733 (GRCm39) |
H183R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,523 (GRCm39) |
N918I |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,679,540 (GRCm39) |
V763A |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,439 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
G |
A |
2: 88,356,824 (GRCm39) |
W299* |
probably null |
Het |
| Papola |
A |
G |
12: 105,789,859 (GRCm39) |
K482E |
probably benign |
Het |
| Pck1 |
C |
T |
2: 172,998,792 (GRCm39) |
T350I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,405,727 (GRCm39) |
A51T |
probably damaging |
Het |
| Rpl36-ps4 |
T |
C |
17: 88,228,685 (GRCm39) |
V73A |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,314,962 (GRCm39) |
P1240L |
probably benign |
Het |
| Selenom |
G |
T |
11: 3,466,882 (GRCm39) |
E81* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,081,081 (GRCm39) |
M1V |
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,615,685 (GRCm39) |
S231P |
possibly damaging |
Het |
| Trappc10 |
C |
T |
10: 78,045,260 (GRCm39) |
R476Q |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,091,386 (GRCm39) |
D200E |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,272,922 (GRCm39) |
D579N |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,349 (GRCm39) |
E33V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACTCAAGTTTCACAG -3'
(R):5'- TTGGGTCACTAGAGGACTGG -3'
Sequencing Primer
(F):5'- GGTGTTATTGCAACTAACACTCACC -3'
(R):5'- CACAGCTGTAGTCTCAGAGCTTAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation