Incidental Mutation 'IGL01922:H2-T3'
| ID |
180127 |
| 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 # |
IGL01922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36185572-36190287 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36187100 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 307
(M307T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000025312
AA Change: M263T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: M263T
| 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 |
possibly damaging
Transcript: ENSMUST00000102675
AA Change: M307T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: M307T
| 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 |
possibly damaging
Transcript: ENSMUST00000173133
AA Change: M307T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: M307T
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
A |
G |
15: 8,270,821 |
K3204R |
unknown |
Het |
| Adam12 |
C |
A |
7: 133,937,472 |
G104* |
probably null |
Het |
| Adamtsl1 |
A |
G |
4: 86,249,902 |
K477R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,564,255 |
V295G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,668 |
I1234N |
probably damaging |
Het |
| Ccdc151 |
G |
T |
9: 21,993,530 |
|
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,330,119 |
E997G |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,986,425 |
N601S |
probably benign |
Het |
| Col28a1 |
G |
T |
6: 8,158,133 |
D308E |
probably damaging |
Het |
| Cspg4 |
G |
A |
9: 56,887,887 |
D969N |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,739,807 |
V347I |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 66,075,034 |
|
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,662,387 |
Y282H |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 |
S144L |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,761,722 |
I48V |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,210,466 |
|
probably null |
Het |
| Nphp1 |
T |
C |
2: 127,780,069 |
Y46C |
possibly damaging |
Het |
| Olfr128 |
A |
T |
17: 37,923,959 |
H131L |
possibly damaging |
Het |
| Olfr325 |
G |
A |
11: 58,581,073 |
M76I |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 122,492,692 |
S1066R |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,079,579 |
S1353P |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,315,360 |
D37V |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,339,152 |
|
probably null |
Het |
| Selenoo |
T |
C |
15: 89,099,649 |
V585A |
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,176,930 |
T61A |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,769,605 |
T340A |
probably damaging |
Het |
| Unc50 |
A |
G |
1: 37,437,203 |
D148G |
probably benign |
Het |
| Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
| Xpc |
C |
T |
6: 91,505,425 |
R192H |
probably 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 |
|
|
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 |
|
IGL03298:H2-T3
|
APN |
17 |
36189428 |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation