Incidental Mutation 'R0828:Hmgxb3'
| ID |
78412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgxb3
|
| Ensembl Gene |
ENSMUSG00000024622 |
| Gene Name |
HMG box domain containing 3 |
| Synonyms |
2510002C16Rik, A630042L21Rik |
| MMRRC Submission |
039008-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.749)
|
| Stock # |
R0828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61264349-61310122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61304426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 55
(I55F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091884]
|
| AlphaFold |
Q6AXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091884
AA Change: I55F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622
AA Change: I55F
| 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 |
|
| Meta Mutation Damage Score |
0.2487 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
C |
T |
11: 25,602,020 (GRCm39) |
C70Y |
unknown |
Het |
| Abi3bp |
C |
T |
16: 56,498,193 (GRCm39) |
T929I |
probably damaging |
Het |
| Adap2 |
C |
A |
11: 80,056,490 (GRCm39) |
|
probably benign |
Het |
| Adgrg5 |
A |
G |
8: 95,668,413 (GRCm39) |
|
probably null |
Het |
| Afdn |
C |
A |
17: 14,124,260 (GRCm39) |
N1803K |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,057,132 (GRCm39) |
L451P |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,510,434 (GRCm39) |
|
probably benign |
Het |
| Bcr |
A |
T |
10: 74,993,039 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,734,347 (GRCm39) |
N300D |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,829,097 (GRCm39) |
Q876K |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,837 (GRCm39) |
D356G |
possibly damaging |
Het |
| Cdipt |
T |
A |
7: 126,576,092 (GRCm39) |
Y16N |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,233,411 (GRCm39) |
E772G |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,828,992 (GRCm39) |
I304T |
probably benign |
Het |
| Chpt1 |
C |
A |
10: 88,312,277 (GRCm39) |
G9V |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,739,263 (GRCm39) |
|
probably null |
Het |
| Dock7 |
G |
T |
4: 98,903,982 (GRCm39) |
P688T |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,037,784 (GRCm39) |
|
probably benign |
Het |
| Fcgr2b |
T |
C |
1: 170,788,599 (GRCm39) |
Y336C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,639 (GRCm39) |
H889L |
unknown |
Het |
| Gucy2c |
C |
T |
6: 136,686,746 (GRCm39) |
V806M |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,230,901 (GRCm39) |
Y301* |
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,333,691 (GRCm39) |
R196H |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,715,677 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,515,943 (GRCm39) |
V283A |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,135 (GRCm39) |
L423P |
probably damaging |
Het |
| Krt6a |
T |
C |
15: 101,602,271 (GRCm39) |
N138S |
probably damaging |
Het |
| Lrba |
A |
T |
3: 86,515,677 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
T |
C |
12: 69,852,100 (GRCm39) |
T828A |
probably damaging |
Het |
| Marchf8 |
T |
A |
6: 116,382,639 (GRCm39) |
M434K |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,500,971 (GRCm39) |
Q743* |
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,884 (GRCm39) |
N14S |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,557,073 (GRCm39) |
S808G |
probably damaging |
Het |
| Msi1 |
T |
C |
5: 115,568,953 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
G |
19: 56,333,990 (GRCm39) |
Y874H |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,171,501 (GRCm39) |
F455L |
probably benign |
Het |
| Or2t1 |
G |
T |
14: 14,328,800 (GRCm38) |
V230L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,613,466 (GRCm39) |
V894A |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,990 (GRCm39) |
S173P |
probably damaging |
Het |
| Pphln1-ps1 |
A |
G |
16: 13,495,669 (GRCm39) |
Y256C |
probably damaging |
Het |
| Prep |
C |
T |
10: 45,031,621 (GRCm39) |
A564V |
probably benign |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,922 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
G |
C |
4: 132,063,136 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,584,073 (GRCm39) |
D1514V |
probably benign |
Het |
| Setdb1 |
G |
A |
3: 95,246,171 (GRCm39) |
P584S |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,936,771 (GRCm39) |
I144V |
probably benign |
Het |
| Slc45a4 |
T |
C |
15: 73,458,665 (GRCm39) |
M295V |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,867,565 (GRCm39) |
D456V |
possibly damaging |
Het |
| Sspo |
G |
T |
6: 48,475,668 (GRCm39) |
C4928F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,823 (GRCm39) |
K163N |
probably benign |
Het |
| Tcp11l1 |
A |
T |
2: 104,530,181 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,958,825 (GRCm39) |
I1715F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,108 (GRCm39) |
V1008M |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,312 (GRCm39) |
E587G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,177,864 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp8 |
G |
A |
2: 126,584,034 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,237,612 (GRCm39) |
A464S |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,084 (GRCm39) |
I108V |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGACACAATGCCAGGTTCAAG -3'
(R):5'- TTCGAGTACAATGACAGCAGCCC -3'
Sequencing Primer
(F):5'- CTACCCGTTAAACCAATGAGGGAG -3'
(R):5'- GACAGCAGCCCTGCATATTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation