Incidental Mutation 'R8551:Hbp1'
| ID |
659874 |
| 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 |
068516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R8551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31976449-32000529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31980709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 465
(T465A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
[ENSMUST00000167458]
[ENSMUST00000172314]
[ENSMUST00000175686]
[ENSMUST00000176520]
[ENSMUST00000218428]
[ENSMUST00000219837]
|
| 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: T465A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131983
Gene: ENSMUSG00000002996
AA Change: T465A
| 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: T465A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131158
Gene: ENSMUSG00000002996
AA Change: T465A
| 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 |
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: ENSMUST00000218428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219837
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
G |
A |
7: 82,189,678 (GRCm39) |
R634H |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,496,227 (GRCm39) |
I1493K |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,155,360 (GRCm39) |
S303P |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,062 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,881,829 (GRCm39) |
C467F |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,285,351 (GRCm39) |
T811A |
possibly damaging |
Het |
| Galr1 |
T |
A |
18: 82,424,191 (GRCm39) |
I29F |
probably benign |
Het |
| Gata3 |
C |
A |
2: 9,867,994 (GRCm39) |
C320F |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,732,351 (GRCm39) |
Y247* |
probably null |
Het |
| Gnao1 |
A |
G |
8: 94,682,735 (GRCm39) |
Q307R |
probably damaging |
Het |
| Liph |
C |
G |
16: 21,800,158 (GRCm39) |
G152R |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,093,446 (GRCm39) |
S656P |
probably damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,163,844 (GRCm39) |
N85I |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,808,645 (GRCm39) |
I105N |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,764,488 (GRCm39) |
T159A |
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,430,326 (GRCm39) |
L152* |
probably null |
Het |
| Map3k20 |
T |
G |
2: 72,232,704 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
G |
T |
9: 88,570,943 (GRCm39) |
R102S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,337,277 (GRCm39) |
S391R |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,979,996 (GRCm39) |
D128G |
probably benign |
Het |
| Nlrp14 |
C |
T |
7: 106,782,359 (GRCm39) |
R519C |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,109 (GRCm39) |
I151T |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Oxtr |
T |
C |
6: 112,465,939 (GRCm39) |
K274E |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,103 (GRCm39) |
K32R |
probably damaging |
Het |
| Relt |
T |
C |
7: 100,512,409 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,575,479 (GRCm39) |
I4840F |
possibly damaging |
Het |
| Sccpdh |
T |
A |
1: 179,509,013 (GRCm39) |
Y27N |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,050 (GRCm39) |
S343P |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,971 (GRCm39) |
D950G |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,207,199 (GRCm39) |
Y115H |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,993 (GRCm39) |
V198A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,024 (GRCm39) |
D159G |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,003,810 (GRCm39) |
D253G |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,768,900 (GRCm39) |
F359I |
possibly damaging |
Het |
| Twist1 |
C |
T |
12: 34,008,103 (GRCm39) |
R43W |
unknown |
Het |
| Usp19 |
A |
T |
9: 108,376,496 (GRCm39) |
E1026V |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,397 (GRCm39) |
Y417C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,122 (GRCm39) |
I689V |
probably benign |
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 |
|
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 |
|
R9477:Hbp1
|
UTSW |
12 |
31,980,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTTGGAATGCAAAGCTTC -3'
(R):5'- AGTAAAAGCTGTGGTTCACCTG -3'
Sequencing Primer
(F):5'- TTCCAGAGGACCCAGGTTCATATC -3'
(R):5'- GTGGTTCACCTGGATCATCACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation