Incidental Mutation 'R6034:Hmgxb3'
ID |
480586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmgxb3
|
Ensembl Gene |
ENSMUSG00000024622 |
Gene Name |
HMG box domain containing 3 |
Synonyms |
2510002C16Rik, A630042L21Rik |
MMRRC Submission |
044206-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.749)
|
Stock # |
R6034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
61264349-61310122 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61265594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1128
(H1128L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025523]
[ENSMUST00000091884]
[ENSMUST00000115268]
|
AlphaFold |
Q6AXF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025523
|
SMART Domains |
Protein: ENSMUSP00000025523 Gene: ENSMUSG00000024621
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
102 |
4.63e-8 |
SMART |
IG
|
112 |
196 |
7.82e-6 |
SMART |
IGc2
|
215 |
285 |
1.36e-5 |
SMART |
IG
|
308 |
397 |
3.2e-2 |
SMART |
IG_like
|
402 |
504 |
1.8e2 |
SMART |
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
TyrKc
|
580 |
908 |
1.45e-134 |
SMART |
low complexity region
|
926 |
954 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091884
AA Change: H1128L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089498 Gene: ENSMUSG00000024622 AA Change: H1128L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115268
|
SMART Domains |
Protein: ENSMUSP00000110923 Gene: ENSMUSG00000024621
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IG
|
27 |
102 |
4.63e-8 |
SMART |
IG
|
112 |
196 |
7.82e-6 |
SMART |
IGc2
|
215 |
285 |
1.36e-5 |
SMART |
IG
|
308 |
397 |
3.2e-2 |
SMART |
IG_like
|
402 |
504 |
1.8e2 |
SMART |
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
TyrKc
|
580 |
908 |
1.45e-134 |
SMART |
low complexity region
|
926 |
954 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6312 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.4%
- 20x: 87.0%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
probably damaging |
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 |
|
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 |
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 |
|
Posted On |
2017-06-26 |