Incidental Mutation 'IGL03346:H2-T5'
| ID |
417444 |
| 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 # |
IGL03346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36479001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 83
(D83Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094947
(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: D55Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: D55Y
| 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: D83Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: D83Y
| 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: D83Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: D83Y
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
C |
T |
16: 29,133,422 (GRCm39) |
V410M |
probably benign |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,653 (GRCm39) |
D51E |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,802,282 (GRCm39) |
V2184A |
probably benign |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cldn23 |
G |
A |
8: 36,292,594 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,944,037 (GRCm39) |
I641F |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Creg2 |
T |
G |
1: 39,689,915 (GRCm39) |
D65A |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,795,808 (GRCm39) |
R711G |
possibly damaging |
Het |
| Efr3b |
A |
G |
12: 4,034,648 (GRCm39) |
V58A |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
| Fzr1 |
T |
C |
10: 81,205,018 (GRCm39) |
T300A |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,935,474 (GRCm39) |
Y227N |
possibly damaging |
Het |
| Gins3 |
A |
G |
8: 96,369,903 (GRCm39) |
I197V |
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,338,879 (GRCm39) |
Y320C |
probably damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Klf1 |
T |
C |
8: 85,629,561 (GRCm39) |
S129P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nat8f5 |
A |
G |
6: 85,794,640 (GRCm39) |
S107P |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,581 (GRCm39) |
L267P |
possibly damaging |
Het |
| Or8g24 |
T |
A |
9: 38,989,258 (GRCm39) |
Q261L |
probably damaging |
Het |
| Or8g24 |
C |
A |
9: 38,989,257 (GRCm39) |
Q261H |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,674 (GRCm39) |
M1I |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,775,669 (GRCm39) |
H14R |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,889 (GRCm39) |
D825G |
probably benign |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 108,993,046 (GRCm39) |
|
probably benign |
Het |
| Smad9 |
C |
A |
3: 54,696,636 (GRCm39) |
Q234K |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,025 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Traf1 |
T |
C |
2: 34,838,484 (GRCm39) |
E118G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Uaca |
C |
A |
9: 60,761,600 (GRCm39) |
T204K |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,401,096 (GRCm39) |
Y154N |
probably benign |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,779,929 (GRCm39) |
D500G |
probably damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,693,253 (GRCm39) |
H449L |
probably benign |
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 |
|
|
IGL00534:H2-T5
|
APN |
17 |
36,479,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:H2-T5
|
APN |
17 |
36,476,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2016-08-02 |
Incidental Mutation