Incidental Mutation 'IGL00515:Hmgxb4'
| ID |
5015 |
| 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 # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
75720305-75758606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75727539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 174
(P174Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041759]
[ENSMUST00000145919]
[ENSMUST00000211863]
|
| AlphaFold |
Q80Y32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041759
AA Change: P174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: P174Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000133585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134126
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000151062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212372
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Hmgxb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Hmgxb4
|
APN |
8 |
75,756,131 (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