Incidental Mutation 'R6669:Tox4'
ID |
528071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tox4
|
Ensembl Gene |
ENSMUSG00000016831 |
Gene Name |
TOX high mobility group box family member 4 |
Synonyms |
5730589K01Rik |
MMRRC Submission |
044789-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6669 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
52516603-52532966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52524213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 116
(Y116H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
|
AlphaFold |
Q8BU11 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022766
AA Change: Y116H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022766 Gene: ENSMUSG00000016831 AA Change: Y116H
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
HMG
|
222 |
292 |
1.17e-18 |
SMART |
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173361
|
Meta Mutation Damage Score |
0.3879 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
A |
G |
10: 50,716,469 (GRCm39) |
I1952V |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,637,788 (GRCm39) |
E142G |
possibly damaging |
Het |
Bbc3 |
G |
T |
7: 16,047,641 (GRCm39) |
A122S |
possibly damaging |
Het |
Cenpu |
T |
C |
8: 47,029,319 (GRCm39) |
S191P |
probably damaging |
Het |
Clic3 |
G |
T |
2: 25,347,779 (GRCm39) |
R48L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,229,767 (GRCm39) |
K1774E |
probably benign |
Het |
Cnst |
T |
A |
1: 179,432,638 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
T |
A |
7: 55,549,809 (GRCm39) |
S657T |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,572 (GRCm39) |
Y322C |
probably damaging |
Het |
Epn2 |
C |
T |
11: 61,410,384 (GRCm39) |
V550I |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,535,722 (GRCm39) |
P466S |
possibly damaging |
Het |
Fancd2 |
C |
T |
6: 113,570,288 (GRCm39) |
T1413I |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,121,847 (GRCm39) |
W400R |
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,988 (GRCm39) |
V425A |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,158,966 (GRCm39) |
D564E |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,967,702 (GRCm39) |
I889V |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,343,171 (GRCm39) |
I1688V |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,799,467 (GRCm39) |
F234I |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,614,307 (GRCm39) |
T357A |
possibly damaging |
Het |
Ncoa6 |
T |
G |
2: 155,241,613 (GRCm39) |
|
probably null |
Het |
Nlk |
C |
A |
11: 78,477,892 (GRCm39) |
G284* |
probably null |
Het |
Nrxn1 |
T |
A |
17: 90,366,991 (GRCm39) |
T12S |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,531,221 (GRCm39) |
Y627C |
probably damaging |
Het |
Ntn1 |
T |
C |
11: 68,276,576 (GRCm39) |
N124S |
probably benign |
Het |
Pdzd7 |
T |
A |
19: 45,025,190 (GRCm39) |
Q435L |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
G |
A |
1: 185,196,625 (GRCm39) |
R429Q |
probably benign |
Het |
Trpv5 |
G |
A |
6: 41,634,976 (GRCm39) |
A451V |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,605 (GRCm39) |
V482A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,852,850 (GRCm39) |
D703E |
probably benign |
Het |
Xirp2 |
C |
A |
2: 67,343,699 (GRCm39) |
A1980E |
possibly damaging |
Het |
Xrcc1 |
T |
C |
7: 24,246,762 (GRCm39) |
V10A |
probably damaging |
Het |
|
Other mutations in Tox4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00468:Tox4
|
APN |
14 |
52,523,202 (GRCm39) |
missense |
probably damaging |
1.00 |
Gift
|
UTSW |
14 |
52,524,213 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4494001:Tox4
|
UTSW |
14 |
52,529,260 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0517:Tox4
|
UTSW |
14 |
52,530,085 (GRCm39) |
missense |
probably benign |
0.01 |
R0801:Tox4
|
UTSW |
14 |
52,517,335 (GRCm39) |
missense |
probably benign |
0.28 |
R1640:Tox4
|
UTSW |
14 |
52,530,000 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2980:Tox4
|
UTSW |
14 |
52,529,983 (GRCm39) |
missense |
probably benign |
0.00 |
R3899:Tox4
|
UTSW |
14 |
52,517,299 (GRCm39) |
missense |
probably damaging |
0.98 |
R4016:Tox4
|
UTSW |
14 |
52,523,361 (GRCm39) |
critical splice donor site |
probably null |
|
R4614:Tox4
|
UTSW |
14 |
52,524,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R5764:Tox4
|
UTSW |
14 |
52,523,277 (GRCm39) |
missense |
probably damaging |
0.96 |
R5847:Tox4
|
UTSW |
14 |
52,524,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R6978:Tox4
|
UTSW |
14 |
52,524,694 (GRCm39) |
splice site |
probably null |
|
R7155:Tox4
|
UTSW |
14 |
52,529,554 (GRCm39) |
missense |
probably benign |
|
R7770:Tox4
|
UTSW |
14 |
52,517,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R8806:Tox4
|
UTSW |
14 |
52,524,318 (GRCm39) |
missense |
probably damaging |
0.98 |
R9012:Tox4
|
UTSW |
14 |
52,523,208 (GRCm39) |
missense |
probably benign |
0.19 |
R9165:Tox4
|
UTSW |
14 |
52,523,247 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9523:Tox4
|
UTSW |
14 |
52,529,166 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCAAGGATTGTGGGGAATG -3'
(R):5'- TTGAAAGACGATCCTCAGGTG -3'
Sequencing Primer
(F):5'- TTCACATAGGTAGATCAGGCTAGCC -3'
(R):5'- GTGACTGGGCAGGTGGC -3'
|
Posted On |
2018-07-24 |