Incidental Mutation 'IGL00534:H2-T5'
| ID |
3855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-T5
|
| Ensembl Gene |
|
| Gene Name |
histocompatibility 2, T region locus 5 |
| Synonyms |
Gm8909, H2-T26, H-2T5 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL00534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36479021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 76
(I76N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040467
AA Change: I48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: I48N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
5.9e-96 |
PFAM |
|
IGc1
|
223 |
294 |
8.23e-23 |
SMART |
|
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000090537
|
| SMART Domains |
Protein: ENSMUSP00000088025
Gene: ENSMUSG00000038311
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2sqca2
|
105 |
173 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097335
AA Change: I76N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: I76N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
54 |
232 |
7.3e-96 |
PFAM |
|
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
|
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173353
AA Change: I76N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: I76N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
54 |
232 |
3.9e-93 |
PFAM |
|
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
|
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174693
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsj |
G |
T |
3: 126,158,594 (GRCm39) |
A58S |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,150 (GRCm39) |
S2148T |
probably benign |
Het |
| Esd |
T |
C |
14: 74,975,901 (GRCm39) |
V34A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,553 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,967,765 (GRCm39) |
T462M |
probably damaging |
Het |
| Gm382 |
A |
G |
X: 125,971,238 (GRCm39) |
Y1141C |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,562 (GRCm39) |
E143G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,958,215 (GRCm39) |
T153A |
probably damaging |
Het |
| Irs1 |
A |
G |
1: 82,266,192 (GRCm39) |
S675P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,362,719 (GRCm39) |
H573Q |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,055 (GRCm39) |
E237G |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,610,305 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,574,437 (GRCm39) |
|
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,958 (GRCm39) |
L136P |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,272,420 (GRCm39) |
M158K |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,378,604 (GRCm39) |
E308G |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,055,503 (GRCm39) |
N562K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,545 (GRCm39) |
Y264C |
probably damaging |
Het |
| Snx27 |
G |
A |
3: 94,469,279 (GRCm39) |
H21Y |
probably damaging |
Het |
|
| Other mutations in H2-T5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:H2-T5
|
APN |
17 |
36,476,246 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02312:H2-T5
|
APN |
17 |
36,476,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03346:H2-T5
|
APN |
17 |
36,479,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8441:H2-T5
|
UTSW |
17 |
36,478,874 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0005:H2-T5
|
UTSW |
17 |
36,473,084 (GRCm39) |
unclassified |
probably benign |
|
|
R0078:H2-T5
|
UTSW |
17 |
36,476,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0553:H2-T5
|
UTSW |
17 |
36,478,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:H2-T5
|
UTSW |
17 |
36,478,990 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1718:H2-T5
|
UTSW |
17 |
36,472,676 (GRCm39) |
unclassified |
probably benign |
|
|
R1937:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:H2-T5
|
UTSW |
17 |
36,478,553 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4393:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
|
R4396:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
|
R4409:H2-T5
|
UTSW |
17 |
36,476,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4505:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
|
R4506:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
|
R4507:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
|
R4579:H2-T5
|
UTSW |
17 |
36,472,649 (GRCm39) |
unclassified |
probably benign |
|
|
R4684:H2-T5
|
UTSW |
17 |
36,476,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4740:H2-T5
|
UTSW |
17 |
36,478,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:H2-T5
|
UTSW |
17 |
36,476,308 (GRCm39) |
nonsense |
probably null |
|
|
R5103:H2-T5
|
UTSW |
17 |
36,472,577 (GRCm39) |
unclassified |
probably benign |
|
|
R5275:H2-T5
|
UTSW |
17 |
36,472,567 (GRCm39) |
splice site |
probably null |
|
|
R5425:H2-T5
|
UTSW |
17 |
36,479,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:H2-T5
|
UTSW |
17 |
36,478,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6727:H2-T5
|
UTSW |
17 |
36,476,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:H2-T5
|
UTSW |
17 |
36,478,965 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7985:H2-T5
|
UTSW |
17 |
36,478,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:H2-T5
|
UTSW |
17 |
36,479,154 (GRCm39) |
missense |
unknown |
|
|
R8872:H2-T5
|
UTSW |
17 |
36,476,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9046:H2-T5
|
UTSW |
17 |
36,476,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9296:H2-T5
|
UTSW |
17 |
36,479,169 (GRCm39) |
missense |
unknown |
|
|
Z1177:H2-T5
|
UTSW |
17 |
36,476,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation