Incidental Mutation 'IGL02114:Hbp1'
| ID |
280311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hbp1
|
| Ensembl Gene |
ENSMUSG00000002996 |
| Gene Name |
high mobility group box transcription factor 1 |
| Synonyms |
C86454, C330012F01Rik, 1700058O05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
IGL02114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31976449-32000529 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 31980674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
[ENSMUST00000167458]
[ENSMUST00000172314]
[ENSMUST00000175686]
[ENSMUST00000176520]
[ENSMUST00000219837]
[ENSMUST00000218428]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
|
| SMART Domains |
Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:COG5
|
35 |
158 |
3.8e-37 |
PFAM |
|
Pfam:Vps51
|
37 |
120 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167458
|
| SMART Domains |
Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
AXH
|
220 |
350 |
1.35e-88 |
SMART |
|
PDB:1S5R|A
|
368 |
390 |
6e-7 |
PDB |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
PDB:2E6O|A
|
437 |
474 |
6e-20 |
PDB |
|
SCOP:d1cg7a_
|
443 |
474 |
2e-9 |
SMART |
|
Blast:HMG
|
445 |
474 |
3e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172314
|
| SMART Domains |
Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
AXH
|
220 |
350 |
1.35e-88 |
SMART |
|
PDB:1S5R|A
|
368 |
390 |
7e-7 |
PDB |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
HMG
|
445 |
515 |
8.7e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175686
|
| SMART Domains |
Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
AXH
|
224 |
354 |
1.35e-88 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176138
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176520
|
| SMART Domains |
Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
Pfam:AXH
|
215 |
288 |
3.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218428
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a gene trapped allele have behavioral abnormalities and show alterations in leukocyte, platelet and NK cell number, blood urea nitrogen levels, and circulating amylase and calcium levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
| Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
| Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
| Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
| Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
| Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
| Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
| Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
| Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
| Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
| Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
| Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
| Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
| Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
probably benign |
Het |
|
| Other mutations in Hbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Sliver
|
UTSW |
12 |
31,987,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4135:Hbp1
|
UTSW |
12 |
31,984,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Hbp1
|
UTSW |
12 |
32,000,231 (GRCm39) |
unclassified |
probably benign |
|
|
R5324:Hbp1
|
UTSW |
12 |
31,978,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Hbp1
|
UTSW |
12 |
31,987,651 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5936:Hbp1
|
UTSW |
12 |
31,987,095 (GRCm39) |
splice site |
probably null |
|
|
R6062:Hbp1
|
UTSW |
12 |
31,987,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6439:Hbp1
|
UTSW |
12 |
31,987,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Hbp1
|
UTSW |
12 |
31,993,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Hbp1
|
UTSW |
12 |
31,987,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7519:Hbp1
|
UTSW |
12 |
31,983,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Hbp1
|
UTSW |
12 |
31,993,899 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7731:Hbp1
|
UTSW |
12 |
31,983,367 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8284:Hbp1
|
UTSW |
12 |
31,987,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Hbp1
|
UTSW |
12 |
31,983,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8551:Hbp1
|
UTSW |
12 |
31,980,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Hbp1
|
UTSW |
12 |
31,980,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation