Incidental Mutation 'IGL00485:Hmgxb4'
| ID |
5014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmgxb4
|
| Ensembl Gene |
ENSMUSG00000034518 |
| Gene Name |
HMG box domain containing 4 |
| Synonyms |
Hmgb2l1, 4733401K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
IGL00485
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
75720305-75758606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75756131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 545
(S545P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041759]
[ENSMUST00000078847]
[ENSMUST00000109940]
[ENSMUST00000145919]
[ENSMUST00000165630]
[ENSMUST00000211869]
[ENSMUST00000212564]
[ENSMUST00000212299]
[ENSMUST00000212388]
[ENSMUST00000212651]
|
| AlphaFold |
Q80Y32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041759
AA Change: S545P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: S545P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
Pfam:DUF4171
|
107 |
232 |
1.3e-55 |
PFAM |
|
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
339 |
N/A |
INTRINSIC |
|
HMG
|
399 |
469 |
7.63e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078847
|
| SMART Domains |
Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
4.03e-68 |
SMART |
|
Pfam:GAT
|
228 |
303 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109940
AA Change: S148P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105566
Gene: ENSMUSG00000034518
AA Change: S148P
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
2 |
72 |
7.63e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145919
|
| SMART Domains |
Protein: ENSMUSP00000133586
Gene: ENSMUSG00000034518
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165630
|
| SMART Domains |
Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
4.03e-68 |
SMART |
|
Pfam:GAT
|
212 |
312 |
5.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212651
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
G |
A |
11: 97,383,497 (GRCm39) |
|
probably benign |
Het |
| Arhgef37 |
G |
A |
18: 61,656,942 (GRCm39) |
T41I |
probably damaging |
Het |
| Brms1 |
A |
C |
19: 5,099,070 (GRCm39) |
|
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Col4a2 |
A |
G |
8: 11,489,012 (GRCm39) |
M1133V |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,410,141 (GRCm39) |
Y314C |
probably damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,467 (GRCm39) |
M77K |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,758,328 (GRCm39) |
R817G |
unknown |
Het |
| Entrep1 |
G |
A |
19: 23,962,086 (GRCm39) |
R306W |
probably damaging |
Het |
| Ftdc2 |
A |
G |
16: 58,455,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,555,962 (GRCm39) |
S1725G |
possibly damaging |
Het |
| Hrob |
C |
T |
11: 102,146,783 (GRCm39) |
S353F |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 65,002,522 (GRCm39) |
E1049G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,864,375 (GRCm39) |
V1424A |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,340,547 (GRCm39) |
V89A |
probably benign |
Het |
| Osbpl11 |
T |
G |
16: 33,062,115 (GRCm39) |
W741G |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,750,678 (GRCm39) |
V914A |
possibly damaging |
Het |
| Phldb2 |
T |
A |
16: 45,577,551 (GRCm39) |
I1117F |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,525,448 (GRCm39) |
L460* |
probably null |
Het |
| Pramel31 |
G |
A |
4: 144,090,012 (GRCm39) |
V351I |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,238,842 (GRCm39) |
I196F |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,673,244 (GRCm39) |
S1044P |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,695 (GRCm39) |
T13A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,618,995 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,755,433 (GRCm39) |
I380T |
probably damaging |
Het |
| Zfyve27 |
T |
A |
19: 42,171,872 (GRCm39) |
C229S |
probably benign |
Het |
|
| Other mutations in Hmgxb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Hmgxb4
|
APN |
8 |
75,727,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Hmgxb4
|
APN |
8 |
75,726,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03281:Hmgxb4
|
APN |
8 |
75,750,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Exude
|
UTSW |
8 |
75,746,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
golightly
|
UTSW |
8 |
75,756,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Spatter
|
UTSW |
8 |
75,748,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Hmgxb4
|
UTSW |
8 |
75,725,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0749:Hmgxb4
|
UTSW |
8 |
75,727,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Hmgxb4
|
UTSW |
8 |
75,727,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Hmgxb4
|
UTSW |
8 |
75,726,193 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6190:Hmgxb4
|
UTSW |
8 |
75,749,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6307:Hmgxb4
|
UTSW |
8 |
75,749,927 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7031:Hmgxb4
|
UTSW |
8 |
75,756,200 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Hmgxb4
|
UTSW |
8 |
75,746,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Hmgxb4
|
UTSW |
8 |
75,756,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7765:Hmgxb4
|
UTSW |
8 |
75,727,436 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7820:Hmgxb4
|
UTSW |
8 |
75,727,574 (GRCm39) |
nonsense |
probably null |
|
|
R7997:Hmgxb4
|
UTSW |
8 |
75,727,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Hmgxb4
|
UTSW |
8 |
75,756,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Hmgxb4
|
UTSW |
8 |
75,748,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9579:Hmgxb4
|
UTSW |
8 |
75,756,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Hmgxb4
|
UTSW |
8 |
75,750,629 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2012-04-20 |
Incidental Mutation