Incidental Mutation 'IGL01364:Hmgxb3'
ID |
75883 |
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? |
Possibly essential
(E-score: 0.749)
|
Stock # |
IGL01364
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61264349-61310122 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61279506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 769
(Y769C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091884]
|
AlphaFold |
Q6AXF8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091884
AA Change: Y769C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000089498 Gene: ENSMUSG00000024622 AA Change: Y769C
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
A |
4: 40,181,380 (GRCm39) |
|
probably null |
Het |
Acot6 |
T |
C |
12: 84,147,840 (GRCm39) |
V32A |
possibly damaging |
Het |
Aff3 |
A |
T |
1: 38,574,762 (GRCm39) |
L73I |
probably damaging |
Het |
Aldh1l2 |
C |
A |
10: 83,328,531 (GRCm39) |
D729Y |
probably damaging |
Het |
Alox15 |
T |
C |
11: 70,235,992 (GRCm39) |
Q525R |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,747,677 (GRCm39) |
Y320H |
probably benign |
Het |
Atxn3 |
C |
T |
12: 101,900,682 (GRCm39) |
|
probably benign |
Het |
Caprin2 |
C |
A |
6: 148,774,526 (GRCm39) |
S262I |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,612,653 (GRCm39) |
|
probably null |
Het |
Ccdc14 |
T |
A |
16: 34,543,583 (GRCm39) |
L647H |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,017,176 (GRCm39) |
D49G |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,308,081 (GRCm39) |
T1280A |
probably benign |
Het |
Ddb1 |
T |
C |
19: 10,605,024 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 66,046,285 (GRCm39) |
Y88H |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,540,512 (GRCm39) |
T351A |
probably damaging |
Het |
Evi2b |
T |
A |
11: 79,407,449 (GRCm39) |
Y42F |
probably benign |
Het |
Fdps |
A |
T |
3: 89,001,577 (GRCm39) |
C274* |
probably null |
Het |
Flnb |
A |
C |
14: 7,934,562 (GRCm38) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,306,643 (GRCm39) |
V917E |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,251,826 (GRCm39) |
Q854* |
probably null |
Het |
Hps3 |
G |
T |
3: 20,057,469 (GRCm39) |
Q772K |
possibly damaging |
Het |
Ifnab |
T |
C |
4: 88,608,987 (GRCm39) |
S160G |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,082,999 (GRCm39) |
E652G |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,397,716 (GRCm39) |
L255S |
probably damaging |
Het |
Kbtbd7 |
T |
A |
14: 79,665,486 (GRCm39) |
D439E |
possibly damaging |
Het |
Kcnn4 |
T |
C |
7: 24,081,128 (GRCm39) |
F289L |
probably benign |
Het |
Mapk6 |
A |
C |
9: 75,296,072 (GRCm39) |
D475E |
possibly damaging |
Het |
Msh5 |
A |
G |
17: 35,247,745 (GRCm39) |
V825A |
possibly damaging |
Het |
Mst1 |
A |
G |
9: 107,958,800 (GRCm39) |
I111V |
probably benign |
Het |
Myo1h |
T |
A |
5: 114,486,500 (GRCm39) |
I586N |
probably damaging |
Het |
Or4k36 |
G |
T |
2: 111,146,015 (GRCm39) |
A64S |
probably damaging |
Het |
Panx1 |
C |
T |
9: 14,932,761 (GRCm39) |
V80M |
probably damaging |
Het |
Polr3b |
T |
A |
10: 84,531,533 (GRCm39) |
I803N |
probably benign |
Het |
Rasa4 |
T |
C |
5: 136,124,425 (GRCm39) |
V158A |
possibly damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,145 (GRCm39) |
M31K |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,404 (GRCm39) |
K154E |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,604,356 (GRCm39) |
|
probably null |
Het |
Sox5 |
C |
T |
6: 144,062,198 (GRCm39) |
M151I |
probably damaging |
Het |
Sun1 |
T |
A |
5: 139,220,496 (GRCm39) |
L290Q |
probably damaging |
Het |
Tm9sf2 |
T |
A |
14: 122,380,872 (GRCm39) |
I155N |
probably damaging |
Het |
Trmt9b |
A |
G |
8: 36,979,501 (GRCm39) |
K368R |
probably benign |
Het |
Tuft1 |
A |
G |
3: 94,542,810 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
A |
G |
9: 40,929,311 (GRCm39) |
|
probably null |
Het |
Vwa1 |
A |
G |
4: 155,855,200 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 119,914,372 (GRCm39) |
E80G |
probably damaging |
Het |
Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
Other mutations in Hmgxb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00594:Hmgxb3
|
APN |
18 |
61,290,811 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01325:Hmgxb3
|
APN |
18 |
61,267,078 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |