Incidental Mutation 'R5711:H2-T3'
ID |
452238 |
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 |
MMRRC Submission |
043185-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5711 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36498301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 248
(E248G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025312]
[ENSMUST00000095300]
[ENSMUST00000097329]
[ENSMUST00000102675]
[ENSMUST00000172663]
[ENSMUST00000173133]
[ENSMUST00000174101]
[ENSMUST00000173629]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025312
AA Change: E204G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025312 Gene: ENSMUSG00000054128 AA Change: E204G
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: E248G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099736 Gene: ENSMUSG00000054128 AA Change: E248G
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 |
probably damaging
Transcript: ENSMUST00000173133
AA Change: E248G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134469 Gene: ENSMUSG00000054128 AA Change: E248G
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 |
noncoding transcript
Transcript: ENSMUST00000173902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174101
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly 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 |
R3779:H2-T3
|
UTSW |
17 |
36,500,574 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AGCTGAGGGTCTTCAGAAGG -3'
(R):5'- CAGACACTTCTGGAGTCACC -3'
Sequencing Primer
(F):5'- AGGGTCTTCAGAAGGCTCCAG -3'
(R):5'- GTCACCAGGAAAGATATTTGATGCCC -3'
|
Posted On |
2017-01-03 |