Incidental Mutation 'R5862:Hmgxb4'
ID |
453967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hmgxb4
|
Ensembl Gene |
ENSMUSG00000034518 |
Gene Name |
HMG box domain containing 4 |
Synonyms |
Hmgb2l1, 4733401K04Rik |
MMRRC Submission |
043231-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R5862 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
75720305-75758606 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75727683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 222
(K222R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041759]
[ENSMUST00000145919]
[ENSMUST00000211863]
|
AlphaFold |
Q80Y32 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041759
AA Change: K222R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045126 Gene: ENSMUSG00000034518 AA Change: K222R
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Pfam:DUF4171
|
107 |
232 |
1.3e-55 |
PFAM |
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
low complexity region
|
293 |
307 |
N/A |
INTRINSIC |
low complexity region
|
317 |
339 |
N/A |
INTRINSIC |
HMG
|
399 |
469 |
7.63e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133585
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134126
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145919
|
SMART Domains |
Protein: ENSMUSP00000133586 Gene: ENSMUSG00000034518
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212372
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
Rnf167 |
A |
G |
11: 70,541,918 (GRCm39) |
T308A |
probably damaging |
Het |
Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
Het |
|
Other mutations in Hmgxb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00485:Hmgxb4
|
APN |
8 |
75,756,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00515:Hmgxb4
|
APN |
8 |
75,727,539 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02337:Hmgxb4
|
APN |
8 |
75,726,259 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03281:Hmgxb4
|
APN |
8 |
75,750,790 (GRCm39) |
missense |
probably damaging |
1.00 |
Exude
|
UTSW |
8 |
75,746,890 (GRCm39) |
missense |
probably damaging |
1.00 |
golightly
|
UTSW |
8 |
75,756,624 (GRCm39) |
missense |
probably damaging |
1.00 |
Spatter
|
UTSW |
8 |
75,748,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Hmgxb4
|
UTSW |
8 |
75,725,556 (GRCm39) |
missense |
probably benign |
0.00 |
R0749:Hmgxb4
|
UTSW |
8 |
75,727,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Hmgxb4
|
UTSW |
8 |
75,726,193 (GRCm39) |
missense |
probably benign |
0.21 |
R6190:Hmgxb4
|
UTSW |
8 |
75,749,927 (GRCm39) |
missense |
probably benign |
0.00 |
R6307:Hmgxb4
|
UTSW |
8 |
75,749,927 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7031:Hmgxb4
|
UTSW |
8 |
75,756,200 (GRCm39) |
nonsense |
probably null |
|
R7171:Hmgxb4
|
UTSW |
8 |
75,746,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R7197:Hmgxb4
|
UTSW |
8 |
75,756,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R7765:Hmgxb4
|
UTSW |
8 |
75,727,436 (GRCm39) |
missense |
probably damaging |
0.97 |
R7820:Hmgxb4
|
UTSW |
8 |
75,727,574 (GRCm39) |
nonsense |
probably null |
|
R7997:Hmgxb4
|
UTSW |
8 |
75,727,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8482:Hmgxb4
|
UTSW |
8 |
75,756,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R8972:Hmgxb4
|
UTSW |
8 |
75,748,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Hmgxb4
|
UTSW |
8 |
75,756,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R9779:Hmgxb4
|
UTSW |
8 |
75,750,629 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATGACAGCAATGCCCAC -3'
(R):5'- TCGGACTCTACTAGAATTGGGTC -3'
Sequencing Primer
(F):5'- GGATGACAGCAATGCCCACAAATC -3'
(R):5'- GACTCTACTAGAATTGGGTCAAGCC -3'
|
Posted On |
2017-02-10 |