Incidental Mutation 'R4135:Hbp1'
| ID |
314860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hbp1
|
| Ensembl Gene |
ENSMUSG00000002996 |
| Gene Name |
high mobility group box transcription factor 1 |
| Synonyms |
C86454, C330012F01Rik, 1700058O05Rik |
| MMRRC Submission |
040995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R4135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31976449-32000529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31984421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 262
(L262Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
[ENSMUST00000167458]
[ENSMUST00000172314]
[ENSMUST00000175686]
[ENSMUST00000176084]
[ENSMUST00000176103]
[ENSMUST00000176520]
|
| 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 damaging
Transcript: ENSMUST00000167458
AA Change: L272Q
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: L272Q
| 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 damaging
Transcript: ENSMUST00000172314
AA Change: L272Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: L272Q
| 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 damaging
Transcript: ENSMUST00000175686
AA Change: L276Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135080
Gene: ENSMUSG00000002996
AA Change: L276Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
AXH
|
224 |
354 |
1.35e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176084
|
| SMART Domains |
Protein: ENSMUSP00000135489
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
PDB:3QVE|C
|
206 |
230 |
7e-10 |
PDB |
|
Blast:AXH
|
210 |
230 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176103
|
| SMART Domains |
Protein: ENSMUSP00000135508
Gene: ENSMUSG00000002996
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
PDB:1V06|A
|
218 |
265 |
1e-28 |
PDB |
|
Blast:AXH
|
220 |
265 |
1e-25 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176138
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176520
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135155
Gene: ENSMUSG00000002996
AA Change: L262Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
Pfam:AXH
|
215 |
288 |
3.1e-15 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176643
AA Change: L97Q
|
| Meta Mutation Damage Score |
0.8940 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,905,092 (GRCm39) |
|
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,240,244 (GRCm39) |
T148S |
possibly damaging |
Het |
| Cdc25a |
C |
A |
9: 109,710,585 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Chst5 |
T |
C |
8: 112,616,816 (GRCm39) |
Y268C |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Ctsr |
T |
C |
13: 61,309,084 (GRCm39) |
T224A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,336,750 (GRCm39) |
K921E |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,605,328 (GRCm39) |
K264E |
possibly damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm6987 |
T |
A |
X: 93,068,216 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd11b2 |
T |
C |
8: 106,249,798 (GRCm39) |
V303A |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,857,707 (GRCm39) |
D136G |
probably benign |
Het |
| Mrpl32 |
C |
T |
13: 14,787,564 (GRCm39) |
V14M |
probably damaging |
Het |
| Msl1 |
A |
G |
11: 98,687,126 (GRCm39) |
D157G |
possibly damaging |
Het |
| Mthfd1 |
G |
A |
12: 76,329,648 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,117,823 (GRCm39) |
W516R |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,210 (GRCm39) |
L226P |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,248 (GRCm39) |
V207A |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Or5af1 |
C |
A |
11: 58,722,820 (GRCm39) |
T280K |
probably damaging |
Het |
| Pate5 |
A |
G |
9: 35,750,724 (GRCm39) |
S33P |
possibly damaging |
Het |
| Pold3 |
T |
A |
7: 99,749,854 (GRCm39) |
R104* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,162 (GRCm39) |
N155Y |
probably damaging |
Het |
| Rorc |
C |
A |
3: 94,296,826 (GRCm39) |
Q269K |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,563 (GRCm39) |
D1223N |
possibly damaging |
Het |
| Sema6d |
T |
C |
2: 124,506,040 (GRCm39) |
I616T |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,679,581 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,810 (GRCm39) |
Y58F |
probably damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Washc3 |
G |
A |
10: 88,055,142 (GRCm39) |
E111K |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,741 (GRCm39) |
S3501G |
probably benign |
Het |
| Zfp1004 |
A |
T |
2: 150,023,788 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,261 (GRCm39) |
T467M |
probably damaging |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Hbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02114:Hbp1
|
APN |
12 |
31,980,674 (GRCm39) |
unclassified |
probably benign |
|
|
Sliver
|
UTSW |
12 |
31,987,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGGTGAAACACGCAC -3'
(R):5'- ACATGCAACTATTCTTAGCCTAGGC -3'
Sequencing Primer
(F):5'- TGCAGGTGAAACACGCACAAATATG -3'
(R):5'- ACATATTCTGTGGTCATGATACGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation