Incidental Mutation 'R3779:H2-T3'
ID |
271983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T3
|
Ensembl Gene |
ENSMUSG00000054128 |
Gene Name |
histocompatibility 2, T region locus 3 |
Synonyms |
TL, H-2T3, H2-Tw3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36500574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 90
(T90A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025312]
[ENSMUST00000095300]
[ENSMUST00000097329]
[ENSMUST00000102675]
[ENSMUST00000172663]
[ENSMUST00000173629]
[ENSMUST00000173133]
[ENSMUST00000174101]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025312
AA Change: T90A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025312 Gene: ENSMUSG00000054128 AA Change: T90A
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: T90A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099736 Gene: ENSMUSG00000054128 AA Change: T90A
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: T88A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134547 Gene: ENSMUSG00000054128 AA Change: T88A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
25 |
203 |
5.1e-85 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172822
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173629
AA Change: T88A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134607 Gene: ENSMUSG00000054128 AA Change: T88A
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 damaging
Transcript: ENSMUST00000173133
AA Change: T90A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134469 Gene: ENSMUSG00000054128 AA Change: T90A
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: ENSMUST00000174101
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (47/48) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
G |
16: 88,424,273 (GRCm39) |
C73R |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,665,628 (GRCm39) |
V371A |
probably damaging |
Het |
Ambn |
C |
A |
5: 88,613,201 (GRCm39) |
|
probably benign |
Het |
Ankrd34a |
T |
C |
3: 96,506,247 (GRCm39) |
F484L |
possibly damaging |
Het |
Bcl11a |
A |
G |
11: 24,114,568 (GRCm39) |
K637R |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,962,337 (GRCm39) |
S1968P |
possibly damaging |
Het |
Cfap61 |
T |
C |
2: 145,792,714 (GRCm39) |
I52T |
probably damaging |
Het |
Cit |
A |
T |
5: 115,997,400 (GRCm39) |
M128L |
probably benign |
Het |
Cnga1 |
G |
T |
5: 72,762,126 (GRCm39) |
L463I |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,094,448 (GRCm39) |
|
probably benign |
Het |
Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
G |
5: 110,839,515 (GRCm39) |
I1853T |
unknown |
Het |
Flg2 |
C |
T |
3: 93,109,730 (GRCm39) |
S586L |
unknown |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm21886 |
G |
T |
18: 80,132,649 (GRCm39) |
Q170K |
possibly damaging |
Het |
Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
Gm9376 |
T |
C |
14: 118,504,727 (GRCm39) |
V53A |
probably benign |
Het |
Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
Hmgcs2 |
C |
T |
3: 98,206,428 (GRCm39) |
|
probably benign |
Het |
Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
Jak1 |
G |
A |
4: 101,013,687 (GRCm39) |
H1014Y |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,306 (GRCm39) |
D253G |
probably damaging |
Het |
Lpin1 |
G |
A |
12: 16,614,569 (GRCm39) |
T404M |
probably damaging |
Het |
Map3k9 |
A |
T |
12: 81,790,565 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
T |
13: 113,039,926 (GRCm39) |
|
probably benign |
Het |
Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
Or6c38 |
A |
G |
10: 128,929,165 (GRCm39) |
F226S |
possibly damaging |
Het |
Pdgfrb |
T |
A |
18: 61,205,738 (GRCm39) |
S575T |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,569,118 (GRCm39) |
Y1247C |
probably damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,260 (GRCm39) |
T181S |
probably benign |
Het |
Pkn2 |
A |
G |
3: 142,499,741 (GRCm39) |
V928A |
possibly damaging |
Het |
Skint5 |
C |
T |
4: 113,636,237 (GRCm39) |
|
probably benign |
Het |
Slc24a1 |
A |
G |
9: 64,855,579 (GRCm39) |
Y443H |
unknown |
Het |
Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
Syncrip |
A |
C |
9: 88,358,992 (GRCm39) |
D172E |
probably damaging |
Het |
Tex26 |
T |
C |
5: 149,369,316 (GRCm39) |
I48T |
probably damaging |
Het |
Trpm6 |
A |
C |
19: 18,853,403 (GRCm39) |
I1808L |
possibly damaging |
Het |
Uba2 |
T |
C |
7: 33,854,071 (GRCm39) |
|
probably null |
Het |
Vwa8 |
T |
A |
14: 79,339,762 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
Wrn |
T |
A |
8: 33,731,048 (GRCm39) |
R1095W |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
Other mutations in H2-T3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00833:H2-T3
|
APN |
17 |
36,497,933 (GRCm39) |
missense |
probably benign |
|
IGL01922:H2-T3
|
APN |
17 |
36,497,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02389:H2-T3
|
APN |
17 |
36,497,500 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02423:H2-T3
|
APN |
17 |
36,498,248 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02963:H2-T3
|
APN |
17 |
36,500,526 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03298:H2-T3
|
APN |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
hyperbole
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
simile
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R1479:H2-T3
|
UTSW |
17 |
36,500,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R2907:H2-T3
|
UTSW |
17 |
36,498,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3623:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3624:H2-T3
|
UTSW |
17 |
36,500,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4271:H2-T3
|
UTSW |
17 |
36,500,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:H2-T3
|
UTSW |
17 |
36,500,236 (GRCm39) |
splice site |
probably null |
|
R5351:H2-T3
|
UTSW |
17 |
36,500,965 (GRCm39) |
missense |
probably benign |
0.06 |
R5387:H2-T3
|
UTSW |
17 |
36,497,594 (GRCm39) |
missense |
probably benign |
0.00 |
R5474:H2-T3
|
UTSW |
17 |
36,500,999 (GRCm39) |
missense |
probably damaging |
0.99 |
R5711:H2-T3
|
UTSW |
17 |
36,498,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:H2-T3
|
UTSW |
17 |
36,497,911 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6849:H2-T3
|
UTSW |
17 |
36,500,697 (GRCm39) |
missense |
probably benign |
0.32 |
R6956:H2-T3
|
UTSW |
17 |
36,500,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:H2-T3
|
UTSW |
17 |
36,497,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:H2-T3
|
UTSW |
17 |
36,498,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R7414:H2-T3
|
UTSW |
17 |
36,498,275 (GRCm39) |
missense |
not run |
|
R8143:H2-T3
|
UTSW |
17 |
36,498,384 (GRCm39) |
missense |
probably benign |
0.35 |
R8901:H2-T3
|
UTSW |
17 |
36,498,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R9697:H2-T3
|
UTSW |
17 |
36,500,744 (GRCm39) |
missense |
probably damaging |
0.98 |
RF009:H2-T3
|
UTSW |
17 |
36,500,294 (GRCm39) |
intron |
probably benign |
|
Z1176:H2-T3
|
UTSW |
17 |
36,497,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:H2-T3
|
UTSW |
17 |
36,497,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAGGAATTCTCCAAACTGAAAGG -3'
(R):5'- ACAGTCTCACCACATGCTGC -3'
Sequencing Primer
(F):5'- GGAAACCGGTCCCTTTTGCAC -3'
(R):5'- CTCACACTCGCTGAGGTAC -3'
|
Posted On |
2015-03-25 |