Incidental Mutation 'IGL03298:H2-T3'
| ID |
416158 |
| 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 # |
IGL03298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36185572-36190287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36189428 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 125
(Y125C)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
| 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 damaging
Transcript: ENSMUST00000102675
AA Change: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Y125C
| 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 damaging
Transcript: ENSMUST00000172663
AA Change: Y123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Y123C
| 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 damaging
Transcript: ENSMUST00000173133
AA Change: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Y125C
| 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 |
silent
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 |
probably benign
Transcript: ENSMUST00000174101
|
| Meta Mutation Damage Score |
0.6467 |
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,543,960 |
T1344A |
probably benign |
Het |
| Abcc4 |
C |
A |
14: 118,611,468 |
D491Y |
probably damaging |
Het |
| Casp2 |
C |
T |
6: 42,268,990 |
|
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,418,874 |
T63A |
probably benign |
Het |
| Cgrrf1 |
A |
G |
14: 46,846,321 |
I187V |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,456,572 |
V845M |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,864,818 |
M691T |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,714,475 |
I4081M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 93,066,181 |
D349V |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,282,798 |
T651A |
unknown |
Het |
| Megf10 |
C |
T |
18: 57,283,838 |
Q760* |
probably null |
Het |
| Mroh7 |
T |
A |
4: 106,714,091 |
K22* |
probably null |
Het |
| Olfr1276 |
A |
T |
2: 111,257,534 |
M140L |
probably benign |
Het |
| Olfr847 |
A |
T |
9: 19,375,062 |
V273E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,521,829 |
Y107N |
probably damaging |
Het |
| Reln |
T |
A |
5: 21,910,836 |
Q3058L |
probably damaging |
Het |
| Ss18 |
T |
C |
18: 14,679,427 |
M36V |
possibly damaging |
Het |
| Tlr7 |
C |
A |
X: 167,306,707 |
K594N |
probably benign |
Het |
| Trim10 |
A |
G |
17: 36,877,025 |
S378G |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,635,101 |
S1105P |
possibly damaging |
Het |
|
| Other mutations in H2-T3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:H2-T3
|
APN |
17 |
36187041 |
missense |
probably benign |
|
|
IGL01922:H2-T3
|
APN |
17 |
36187100 |
missense |
possibly damaging |
0.53 |
|
IGL02389:H2-T3
|
APN |
17 |
36186608 |
missense |
probably benign |
0.01 |
|
IGL02423:H2-T3
|
APN |
17 |
36187356 |
missense |
probably damaging |
0.98 |
|
IGL02963:H2-T3
|
APN |
17 |
36189634 |
missense |
probably damaging |
0.98 |
|
hyperbole
|
UTSW |
17 |
36187345 |
missense |
probably damaging |
1.00 |
|
simile
|
UTSW |
17 |
36187070 |
missense |
probably damaging |
0.99 |
|
R1479:H2-T3
|
UTSW |
17 |
36189428 |
missense |
probably damaging |
1.00 |
|
R2907:H2-T3
|
UTSW |
17 |
36187455 |
missense |
possibly damaging |
0.90 |
|
R3623:H2-T3
|
UTSW |
17 |
36190065 |
missense |
possibly damaging |
0.91 |
|
R3624:H2-T3
|
UTSW |
17 |
36190065 |
missense |
possibly damaging |
0.91 |
|
R3779:H2-T3
|
UTSW |
17 |
36189682 |
missense |
probably damaging |
0.99 |
|
R4271:H2-T3
|
UTSW |
17 |
36189618 |
missense |
probably damaging |
1.00 |
|
R4586:H2-T3
|
UTSW |
17 |
36189344 |
splice site |
probably null |
|
|
R5351:H2-T3
|
UTSW |
17 |
36190073 |
missense |
probably benign |
0.06 |
|
R5387:H2-T3
|
UTSW |
17 |
36186702 |
missense |
probably benign |
0.00 |
|
R5474:H2-T3
|
UTSW |
17 |
36190107 |
missense |
probably damaging |
0.99 |
|
R5711:H2-T3
|
UTSW |
17 |
36187409 |
missense |
probably damaging |
1.00 |
|
R6458:H2-T3
|
UTSW |
17 |
36187019 |
missense |
possibly damaging |
0.53 |
|
R6849:H2-T3
|
UTSW |
17 |
36189805 |
missense |
probably benign |
0.32 |
|
R6956:H2-T3
|
UTSW |
17 |
36189371 |
missense |
probably damaging |
1.00 |
|
R6993:H2-T3
|
UTSW |
17 |
36187070 |
missense |
probably damaging |
0.99 |
|
R7336:H2-T3
|
UTSW |
17 |
36187345 |
missense |
probably damaging |
1.00 |
|
R7414:H2-T3
|
UTSW |
17 |
36187383 |
missense |
not run |
|
|
R8143:H2-T3
|
UTSW |
17 |
36187492 |
missense |
probably benign |
0.35 |
|
R8901:H2-T3
|
UTSW |
17 |
36187360 |
missense |
probably damaging |
0.99 |
|
R9697:H2-T3
|
UTSW |
17 |
36189852 |
missense |
probably damaging |
0.98 |
|
RF009:H2-T3
|
UTSW |
17 |
36189402 |
intron |
probably benign |
|
|
Z1176:H2-T3
|
UTSW |
17 |
36186580 |
missense |
possibly damaging |
0.86 |
|
Z1176:H2-T3
|
UTSW |
17 |
36186582 |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2016-08-02 |
Incidental Mutation