Incidental Mutation 'IGL00594:Hmgxb3'
| ID |
11298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hmgxb3
|
| Ensembl Gene |
ENSMUSG00000024622 |
| Gene Name |
HMG box domain containing 3 |
| Synonyms |
2510002C16Rik, A630042L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
IGL00594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61264349-61310122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61290811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091884]
|
| AlphaFold |
Q6AXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091884
AA Change: V354A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622
AA Change: V354A
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
40 |
110 |
6.8e-15 |
SMART |
|
low complexity region
|
182 |
194 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
307 |
336 |
1.98e-9 |
PROSPERO |
|
internal_repeat_1
|
583 |
612 |
1.98e-9 |
PROSPERO |
|
low complexity region
|
817 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1254 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
| Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
| Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
| Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
| Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
| Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
| Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
| Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
| Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
| Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
| Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,294 (GRCm39) |
F361S |
possibly damaging |
Het |
| Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
| Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
| Other mutations in Hmgxb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Hmgxb3
|
APN |
18 |
61,267,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01364:Hmgxb3
|
APN |
18 |
61,279,506 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02160:Hmgxb3
|
APN |
18 |
61,304,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Hmgxb3
|
APN |
18 |
61,265,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Hmgxb3
|
APN |
18 |
61,305,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Hmgxb3
|
UTSW |
18 |
61,288,200 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Hmgxb3
|
UTSW |
18 |
61,304,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1276:Hmgxb3
|
UTSW |
18 |
61,298,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1429:Hmgxb3
|
UTSW |
18 |
61,283,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1491:Hmgxb3
|
UTSW |
18 |
61,266,980 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1675:Hmgxb3
|
UTSW |
18 |
61,268,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Hmgxb3
|
UTSW |
18 |
61,270,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1887:Hmgxb3
|
UTSW |
18 |
61,270,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2070:Hmgxb3
|
UTSW |
18 |
61,304,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2084:Hmgxb3
|
UTSW |
18 |
61,288,095 (GRCm39) |
splice site |
probably benign |
|
|
R2110:Hmgxb3
|
UTSW |
18 |
61,288,458 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2112:Hmgxb3
|
UTSW |
18 |
61,288,458 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2149:Hmgxb3
|
UTSW |
18 |
61,290,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2342:Hmgxb3
|
UTSW |
18 |
61,296,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2436:Hmgxb3
|
UTSW |
18 |
61,280,566 (GRCm39) |
missense |
probably benign |
|
|
R2898:Hmgxb3
|
UTSW |
18 |
61,288,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2975:Hmgxb3
|
UTSW |
18 |
61,296,038 (GRCm39) |
nonsense |
probably null |
|
|
R3110:Hmgxb3
|
UTSW |
18 |
61,280,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Hmgxb3
|
UTSW |
18 |
61,280,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Hmgxb3
|
UTSW |
18 |
61,280,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Hmgxb3
|
UTSW |
18 |
61,300,611 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4710:Hmgxb3
|
UTSW |
18 |
61,270,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Hmgxb3
|
UTSW |
18 |
61,300,568 (GRCm39) |
missense |
probably benign |
|
|
R4876:Hmgxb3
|
UTSW |
18 |
61,279,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5177:Hmgxb3
|
UTSW |
18 |
61,305,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Hmgxb3
|
UTSW |
18 |
61,296,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5601:Hmgxb3
|
UTSW |
18 |
61,270,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Hmgxb3
|
UTSW |
18 |
61,273,909 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6011:Hmgxb3
|
UTSW |
18 |
61,296,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6034:Hmgxb3
|
UTSW |
18 |
61,265,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Hmgxb3
|
UTSW |
18 |
61,265,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Hmgxb3
|
UTSW |
18 |
61,270,672 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6142:Hmgxb3
|
UTSW |
18 |
61,269,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6419:Hmgxb3
|
UTSW |
18 |
61,285,296 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6675:Hmgxb3
|
UTSW |
18 |
61,270,648 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7130:Hmgxb3
|
UTSW |
18 |
61,265,450 (GRCm39) |
missense |
probably benign |
|
|
R7431:Hmgxb3
|
UTSW |
18 |
61,280,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Hmgxb3
|
UTSW |
18 |
61,300,410 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8559:Hmgxb3
|
UTSW |
18 |
61,288,491 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8674:Hmgxb3
|
UTSW |
18 |
61,269,303 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8711:Hmgxb3
|
UTSW |
18 |
61,290,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation