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, H2-Tw3, H-2T3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36185572-36190287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36187041 bp (GRCm38)
|
| 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]
[ENSMUST00000173629]
[ENSMUST00000174101]
|
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174101
|
| 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: 61,217,180 (GRCm38) |
E350G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,010,101 (GRCm38) |
V2861A |
probably benign |
Het |
| Bpifb9a |
C |
T |
2: 154,264,275 (GRCm38) |
Q358* |
probably null |
Het |
| Cbfa2t2 |
T |
A |
2: 154,528,875 (GRCm38) |
Y423N |
probably damaging |
Het |
| Cd209e |
A |
C |
8: 3,852,800 (GRCm38) |
M102R |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,231,178 (GRCm38) |
V173D |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,179,580 (GRCm38) |
F443L |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,971,924 (GRCm38) |
E901K |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,309,466 (GRCm38) |
D130G |
possibly damaging |
Het |
| Myo1e |
T |
C |
9: 70,338,778 (GRCm38) |
I417T |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,602,736 (GRCm38) |
V377A |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,964,320 (GRCm38) |
I132V |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 126,027,152 (GRCm38) |
K622N |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,340,471 (GRCm38) |
V740I |
probably benign |
Het |
| Polr3gl |
T |
G |
3: 96,578,560 (GRCm38) |
D130A |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,078,492 (GRCm38) |
K784R |
possibly damaging |
Het |
| Sycp1 |
A |
G |
3: 102,876,301 (GRCm38) |
|
probably null |
Het |
| Tg |
C |
T |
15: 66,688,801 (GRCm38) |
T1004I |
probably benign |
Het |
| Tmco5b |
T |
A |
2: 113,296,849 (GRCm38) |
I255N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,393,159 (GRCm38) |
|
probably null |
Het |
| Zeb1 |
A |
G |
18: 5,767,774 (GRCm38) |
T762A |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,472,729 (GRCm38) |
E296G |
probably damaging |
Het |
|
| Other mutations in H2-T3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01922:H2-T3
|
APN |
17 |
36,187,100 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02389:H2-T3
|
APN |
17 |
36,186,608 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02423:H2-T3
|
APN |
17 |
36,187,356 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02963:H2-T3
|
APN |
17 |
36,189,634 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03298:H2-T3
|
APN |
17 |
36,189,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
hyperbole
|
UTSW |
17 |
36,187,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
simile
|
UTSW |
17 |
36,187,070 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1479:H2-T3
|
UTSW |
17 |
36,189,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2907:H2-T3
|
UTSW |
17 |
36,187,455 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3623:H2-T3
|
UTSW |
17 |
36,190,065 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3624:H2-T3
|
UTSW |
17 |
36,190,065 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3779:H2-T3
|
UTSW |
17 |
36,189,682 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4271:H2-T3
|
UTSW |
17 |
36,189,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4586:H2-T3
|
UTSW |
17 |
36,189,344 (GRCm38) |
splice site |
probably null |
|
|
R5351:H2-T3
|
UTSW |
17 |
36,190,073 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5387:H2-T3
|
UTSW |
17 |
36,186,702 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5474:H2-T3
|
UTSW |
17 |
36,190,107 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5711:H2-T3
|
UTSW |
17 |
36,187,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6458:H2-T3
|
UTSW |
17 |
36,187,019 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6849:H2-T3
|
UTSW |
17 |
36,189,805 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6956:H2-T3
|
UTSW |
17 |
36,189,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6993:H2-T3
|
UTSW |
17 |
36,187,070 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7336:H2-T3
|
UTSW |
17 |
36,187,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7414:H2-T3
|
UTSW |
17 |
36,187,383 (GRCm38) |
missense |
not run |
|
|
R8143:H2-T3
|
UTSW |
17 |
36,187,492 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8901:H2-T3
|
UTSW |
17 |
36,187,360 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9697:H2-T3
|
UTSW |
17 |
36,189,852 (GRCm38) |
missense |
probably damaging |
0.98 |
|
RF009:H2-T3
|
UTSW |
17 |
36,189,402 (GRCm38) |
intron |
probably benign |
|
|
Z1176:H2-T3
|
UTSW |
17 |
36,186,582 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
Z1176:H2-T3
|
UTSW |
17 |
36,186,580 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation