Incidental Mutation 'IGL00833:H2-T3'
ID |
11200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-T3
|
Ensembl Gene |
ENSMUSG00000054128 |
Gene Name |
histocompatibility 2, T region locus 3 |
Synonyms |
TL, H-2T3, H2-Tw3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00833
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 36497933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 327
(S327R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025312]
[ENSMUST00000095300]
[ENSMUST00000097329]
[ENSMUST00000102675]
[ENSMUST00000172663]
[ENSMUST00000173133]
[ENSMUST00000174101]
[ENSMUST00000173629]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025312
AA Change: S283R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025312 Gene: ENSMUSG00000054128 AA Change: S283R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
27 |
120 |
2.5e-40 |
PFAM |
Pfam:MHC_I
|
114 |
161 |
3.7e-14 |
PFAM |
IGc1
|
180 |
251 |
1.6e-20 |
SMART |
transmembrane domain
|
271 |
290 |
N/A |
INTRINSIC |
low complexity region
|
293 |
301 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097329
|
SMART Domains |
Protein: ENSMUSP00000138177 Gene: ENSMUSG00000054128
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102675
AA Change: S327R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099736 Gene: ENSMUSG00000054128 AA Change: S327R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
27 |
205 |
9.3e-85 |
PFAM |
IGc1
|
224 |
295 |
1.6e-20 |
SMART |
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
low complexity region
|
337 |
345 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172663
|
SMART Domains |
Protein: ENSMUSP00000134547 Gene: ENSMUSG00000054128
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
25 |
203 |
5.1e-85 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173133
AA Change: S327R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134469 Gene: ENSMUSG00000054128 AA Change: S327R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
27 |
205 |
2.6e-84 |
PFAM |
IGc1
|
224 |
295 |
1.6e-20 |
SMART |
transmembrane domain
|
315 |
334 |
N/A |
INTRINSIC |
low complexity region
|
337 |
345 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174101
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173629
|
SMART Domains |
Protein: ENSMUSP00000134607 Gene: ENSMUSG00000054128
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
25 |
119 |
1.4e-40 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: This locus contains the sole gene encoding the thymic leukemia antigen or TL antigen in "b haplotype" mice such as C57BL/6. Mice homozygous for a targeted knock-out are viable with normal reproduction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
A |
G |
11: 61,108,006 (GRCm39) |
E350G |
probably damaging |
Het |
Apob |
T |
C |
12: 8,060,101 (GRCm39) |
V2861A |
probably benign |
Het |
Bpifb9a |
C |
T |
2: 154,106,195 (GRCm39) |
Q358* |
probably null |
Het |
Cbfa2t2 |
T |
A |
2: 154,370,795 (GRCm39) |
Y423N |
probably damaging |
Het |
Cd209e |
A |
C |
8: 3,902,800 (GRCm39) |
M102R |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,122,004 (GRCm39) |
V173D |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 118,143,315 (GRCm39) |
F443L |
probably damaging |
Het |
Exoc4 |
G |
A |
6: 33,948,859 (GRCm39) |
E901K |
probably damaging |
Het |
Gp5 |
T |
C |
16: 30,128,284 (GRCm39) |
D130G |
possibly damaging |
Het |
Myo1e |
T |
C |
9: 70,246,060 (GRCm39) |
I417T |
probably damaging |
Het |
Nasp |
A |
G |
4: 116,459,933 (GRCm39) |
V377A |
probably damaging |
Het |
Nbn |
A |
G |
4: 15,964,320 (GRCm39) |
I132V |
probably benign |
Het |
Nckap5 |
C |
A |
1: 125,954,889 (GRCm39) |
K622N |
probably damaging |
Het |
Nlrp4e |
G |
A |
7: 23,039,896 (GRCm39) |
V740I |
probably benign |
Het |
Polr3gl |
T |
G |
3: 96,485,876 (GRCm39) |
D130A |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,006,230 (GRCm39) |
K784R |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,783,617 (GRCm39) |
|
probably null |
Het |
Tg |
C |
T |
15: 66,560,650 (GRCm39) |
T1004I |
probably benign |
Het |
Tmco5b |
T |
A |
2: 113,127,194 (GRCm39) |
I255N |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
Zeb1 |
A |
G |
18: 5,767,774 (GRCm39) |
T762A |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,649 (GRCm39) |
E296G |
probably damaging |
Het |
|
Other mutations in H2-T3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01922:H2-T3
|
APN |
17 |
36,497,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02389:H2-T3
|
APN |
17 |
36,497,500 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02423:H2-T3
|
APN |
17 |
36,498,248 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02963:H2-T3
|
APN |
17 |
36,500,526 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03298:H2-T3
|
APN |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
hyperbole
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
simile
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R1479:H2-T3
|
UTSW |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:H2-T3
|
UTSW |
17 |
36,498,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3623:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3624:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3779:H2-T3
|
UTSW |
17 |
36,500,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R4271:H2-T3
|
UTSW |
17 |
36,500,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:H2-T3
|
UTSW |
17 |
36,500,236 (GRCm39) |
splice site |
probably null |
|
R5351:H2-T3
|
UTSW |
17 |
36,500,965 (GRCm39) |
missense |
probably benign |
0.06 |
R5387:H2-T3
|
UTSW |
17 |
36,497,594 (GRCm39) |
missense |
probably benign |
0.00 |
R5474:H2-T3
|
UTSW |
17 |
36,500,999 (GRCm39) |
missense |
probably damaging |
0.99 |
R5711:H2-T3
|
UTSW |
17 |
36,498,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:H2-T3
|
UTSW |
17 |
36,497,911 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6849:H2-T3
|
UTSW |
17 |
36,500,697 (GRCm39) |
missense |
probably benign |
0.32 |
R6956:H2-T3
|
UTSW |
17 |
36,500,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:H2-T3
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:H2-T3
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:H2-T3
|
UTSW |
17 |
36,498,275 (GRCm39) |
missense |
not run |
|
R8143:H2-T3
|
UTSW |
17 |
36,498,384 (GRCm39) |
missense |
probably benign |
0.35 |
R8901:H2-T3
|
UTSW |
17 |
36,498,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R9697:H2-T3
|
UTSW |
17 |
36,500,744 (GRCm39) |
missense |
probably damaging |
0.98 |
RF009:H2-T3
|
UTSW |
17 |
36,500,294 (GRCm39) |
intron |
probably benign |
|
Z1176:H2-T3
|
UTSW |
17 |
36,497,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:H2-T3
|
UTSW |
17 |
36,497,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2012-12-06 |