Incidental Mutation 'IGL02755:Hmgxb3'
| ID |
306415 |
| 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 # |
IGL02755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61264349-61310122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61305260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 33
(K33E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091884]
|
| AlphaFold |
Q6AXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091884
AA Change: K33E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622
AA Change: K33E
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
T |
A |
11: 11,539,358 (GRCm39) |
N189I |
unknown |
Het |
| Adamts19 |
T |
A |
18: 59,103,005 (GRCm39) |
I682K |
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,965,110 (GRCm39) |
V367I |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,507 (GRCm39) |
E1108G |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,801,828 (GRCm39) |
N96K |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,918,168 (GRCm39) |
Y160H |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,238,759 (GRCm39) |
V683E |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,081,416 (GRCm39) |
H786R |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,760,210 (GRCm39) |
I1985T |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,457,040 (GRCm39) |
T36S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,671,189 (GRCm39) |
S1126P |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,972 (GRCm39) |
V264E |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,658,842 (GRCm39) |
T46A |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,600,356 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
A |
G |
8: 120,317,410 (GRCm39) |
D313G |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,448 (GRCm39) |
D561E |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,186,895 (GRCm39) |
T321A |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,297,705 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,742,065 (GRCm39) |
|
probably null |
Het |
| Gm28177 |
G |
A |
1: 52,136,031 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,581,913 (GRCm39) |
V123A |
possibly damaging |
Het |
| Ift22 |
T |
C |
5: 136,940,640 (GRCm39) |
W102R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,762,530 (GRCm39) |
F44L |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,671,843 (GRCm39) |
E29G |
possibly damaging |
Het |
| Nf2 |
A |
G |
11: 4,768,542 (GRCm39) |
L109P |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,110,187 (GRCm39) |
H349R |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,065 (GRCm39) |
M256L |
probably benign |
Het |
| Otub1 |
T |
A |
19: 7,183,624 (GRCm39) |
M1L |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,668,318 (GRCm39) |
|
probably null |
Het |
| Popdc3 |
C |
A |
10: 45,191,314 (GRCm39) |
H142N |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,612 (GRCm39) |
F203S |
possibly damaging |
Het |
| Prdx5 |
A |
G |
19: 6,886,963 (GRCm39) |
V8A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,427,326 (GRCm39) |
Y636H |
probably damaging |
Het |
| Rad51d |
A |
T |
11: 82,772,458 (GRCm39) |
I236N |
probably benign |
Het |
| Reep3 |
G |
T |
10: 66,857,656 (GRCm39) |
T145K |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,120,475 (GRCm39) |
L156F |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,829 (GRCm39) |
T101A |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,344,605 (GRCm39) |
V257A |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,092,247 (GRCm39) |
V506A |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,861,595 (GRCm39) |
S2471T |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,381 (GRCm39) |
T319A |
probably damaging |
Het |
| Vmn2r94 |
C |
T |
17: 18,464,761 (GRCm39) |
V510I |
probably benign |
Het |
| Wscd2 |
T |
A |
5: 113,712,092 (GRCm39) |
M337K |
possibly damaging |
Het |
| Zfp866 |
A |
G |
8: 70,219,290 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation