Incidental Mutation 'R6565:Hmgb4'
| ID |
522603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hmgb4
|
| Ensembl Gene |
ENSMUSG00000048686 |
| Gene Name |
high-mobility group box 4 |
| Synonyms |
1700001F22Rik |
| MMRRC Submission |
044689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R6565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
128154005-128154688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128154388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 60
(Y60F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053830]
[ENSMUST00000184063]
|
| AlphaFold |
Q6P8W9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053830
AA Change: Y60F
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059625
Gene: ENSMUSG00000048686
AA Change: Y60F
| Domain | Start | End | E-Value | Type |
|---|
|
HMG
|
8 |
80 |
7.01e-17 |
SMART |
|
HMG
|
92 |
162 |
3.99e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184063
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
| Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
| Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
| Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
| Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
| Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
| Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
| Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
| Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
probably damaging |
Het |
|
| Other mutations in Hmgb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Hmgb4
|
APN |
4 |
128,154,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01701:Hmgb4
|
APN |
4 |
128,154,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01805:Hmgb4
|
APN |
4 |
128,154,015 (GRCm39) |
intron |
probably benign |
|
|
IGL02752:Hmgb4
|
APN |
4 |
128,154,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02945:Hmgb4
|
APN |
4 |
128,154,387 (GRCm39) |
nonsense |
probably null |
|
|
IGL03210:Hmgb4
|
APN |
4 |
128,154,535 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0012:Hmgb4
|
UTSW |
4 |
128,154,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Hmgb4
|
UTSW |
4 |
128,154,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2178:Hmgb4
|
UTSW |
4 |
128,154,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Hmgb4
|
UTSW |
4 |
128,154,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCCCAGCAGCCTTGGC -3'
(R):5'- CCAGCGAAGGACATTATGGTTG -3'
Sequencing Primer
(F):5'- TGCACCACGGTCCAGTC -3'
(R):5'- ACATTATGGTTGTATAAACATGGGGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation