Incidental Mutation 'IGL02337:Hmgxb4'
| ID |
288910 |
| 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: 0.181)
|
| Stock # |
IGL02337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
75720305-75758606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75726259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 35
(R35W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041759]
[ENSMUST00000145919]
[ENSMUST00000211863]
|
| AlphaFold |
Q80Y32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041759
AA Change: R35W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045126
Gene: ENSMUSG00000034518
AA Change: R35W
| 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 damaging
Transcript: ENSMUST00000145919
AA Change: R35W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133586
Gene: ENSMUSG00000034518
AA Change: R35W
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
| Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
| Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
| Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
| Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
| Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
| Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
| Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
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 |
|
IGL00515:Hmgxb4
|
APN |
8 |
75,727,539 (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 |
2015-04-16 |
Incidental Mutation