Incidental Mutation 'R5607:Preb'
ID |
439329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Preb
|
Ensembl Gene |
ENSMUSG00000045302 |
Gene Name |
prolactin regulatory element binding |
Synonyms |
|
MMRRC Submission |
043271-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.948)
|
Stock # |
R5607 (G1)
|
Quality Score |
163 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31109011-31117700 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 31117307 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 |
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000127081
AA Change: N100K
|
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: ENSMUST00000202593
|
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: ENSMUST00000202445
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202472
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201821
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
Validation Efficiency |
96% (54/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
Ajap1 |
T |
A |
4: 153,516,661 (GRCm39) |
T227S |
possibly damaging |
Het |
Ankmy1 |
A |
G |
1: 92,804,740 (GRCm39) |
F851S |
probably damaging |
Het |
Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
Cacna1e |
T |
A |
1: 154,347,086 (GRCm39) |
N1027I |
probably benign |
Het |
Cacng4 |
A |
T |
11: 107,625,610 (GRCm39) |
V327E |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,303,143 (GRCm39) |
V199A |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
Ctnna1 |
A |
G |
18: 35,382,795 (GRCm39) |
D647G |
probably benign |
Het |
Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
Exoc6 |
T |
A |
19: 37,566,977 (GRCm39) |
V258D |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
G |
A |
1: 174,437,377 (GRCm39) |
C1116Y |
probably damaging |
Het |
H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
Mcm6 |
T |
C |
1: 128,283,326 (GRCm39) |
T60A |
probably damaging |
Het |
Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
Mmp14 |
T |
C |
14: 54,676,869 (GRCm39) |
Y428H |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,771,227 (GRCm39) |
V933A |
probably damaging |
Het |
Nepn |
A |
T |
10: 52,277,233 (GRCm39) |
D323V |
probably benign |
Het |
Nrf1 |
C |
T |
6: 30,126,245 (GRCm39) |
A150V |
probably damaging |
Het |
Nxpe5 |
A |
G |
5: 138,238,033 (GRCm39) |
T199A |
probably benign |
Het |
Obscn |
T |
G |
11: 59,013,674 (GRCm39) |
K1150Q |
probably benign |
Het |
Or12j5 |
A |
C |
7: 140,084,318 (GRCm39) |
V18G |
probably benign |
Het |
Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
Or7a38 |
A |
G |
10: 78,752,933 (GRCm39) |
I86M |
possibly damaging |
Het |
Or7e170 |
T |
A |
9: 19,795,272 (GRCm39) |
M110L |
probably benign |
Het |
Otop1 |
G |
A |
5: 38,451,848 (GRCm39) |
G184S |
possibly damaging |
Het |
Pkp2 |
G |
T |
16: 16,078,239 (GRCm39) |
D494Y |
probably damaging |
Het |
Pop5 |
G |
A |
5: 115,378,260 (GRCm39) |
R68Q |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,800,223 (GRCm39) |
D518G |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
Rag1 |
G |
A |
2: 101,474,137 (GRCm39) |
T335I |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
Sf3a3 |
A |
T |
4: 124,608,746 (GRCm39) |
D20V |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,631,312 (GRCm39) |
N649D |
probably benign |
Het |
Smarcal1 |
A |
G |
1: 72,625,372 (GRCm39) |
D173G |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,718,985 (GRCm39) |
L914P |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,005,246 (GRCm39) |
S796T |
possibly damaging |
Het |
Tex14 |
A |
G |
11: 87,413,404 (GRCm39) |
T1052A |
probably benign |
Het |
Tspan1 |
A |
G |
4: 116,021,277 (GRCm39) |
V109A |
possibly damaging |
Het |
Ttbk2 |
A |
G |
2: 120,637,305 (GRCm39) |
V51A |
possibly damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,245,126 (GRCm39) |
C1633* |
probably null |
Het |
Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
Vmn2r25 |
T |
C |
6: 123,805,318 (GRCm39) |
E513G |
possibly damaging |
Het |
Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTTTGGCTGTCTCAACCAC -3'
(R):5'- ACTCTAGCGCCAAGTTCCTG -3'
Sequencing Primer
(F):5'- CTCTGCTCAGGTGAAACCAG -3'
(R):5'- CCAAGTTCCTGAGCTTTCGGAG -3'
|
Posted On |
2016-10-26 |