Incidental Mutation 'IGL02389:H2-T3'
ID |
291691 |
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, H-2T3, H2-Tw3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02389
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36497500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 59
(M59T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138177
(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 |
probably benign
Transcript: ENSMUST00000025312
AA Change: M329T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025312 Gene: ENSMUSG00000054128 AA Change: M329T
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
AA Change: M59T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000138177 Gene: ENSMUSG00000054128 AA Change: M59T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102675
AA Change: M373T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000099736 Gene: ENSMUSG00000054128 AA Change: M373T
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 benign
Transcript: ENSMUST00000173133
AA Change: M373T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134469 Gene: ENSMUSG00000054128 AA Change: M373T
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: 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 |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
A |
5: 64,053,826 (GRCm39) |
S11N |
probably null |
Het |
Aqp9 |
T |
C |
9: 71,030,188 (GRCm39) |
I200V |
possibly damaging |
Het |
Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
Dennd3 |
A |
G |
15: 73,438,905 (GRCm39) |
D1091G |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,589,567 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
A |
16: 96,442,097 (GRCm39) |
I1577F |
probably benign |
Het |
Egflam |
A |
T |
15: 7,279,559 (GRCm39) |
N482K |
probably benign |
Het |
Fam216a |
T |
C |
5: 122,505,574 (GRCm39) |
T129A |
probably damaging |
Het |
Fbxo40 |
T |
C |
16: 36,790,136 (GRCm39) |
M325V |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,267,020 (GRCm39) |
V148M |
possibly damaging |
Het |
Fcgbp |
C |
T |
7: 27,774,596 (GRCm39) |
R57C |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,616,729 (GRCm39) |
T408A |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,258,187 (GRCm39) |
Q278* |
probably null |
Het |
Krtap21-1 |
C |
T |
16: 89,200,312 (GRCm39) |
G110D |
unknown |
Het |
Myo7a |
C |
T |
7: 97,756,198 (GRCm39) |
|
probably null |
Het |
Nlrp9c |
T |
A |
7: 26,093,632 (GRCm39) |
Q11L |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,336 (GRCm39) |
L141P |
probably damaging |
Het |
Or5b94 |
A |
T |
19: 12,651,899 (GRCm39) |
D110V |
probably benign |
Het |
Or6c75 |
T |
A |
10: 129,336,939 (GRCm39) |
M62K |
probably benign |
Het |
Or6c8 |
A |
C |
10: 128,915,099 (GRCm39) |
I244M |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,289,825 (GRCm39) |
I525T |
probably benign |
Het |
Pign |
A |
T |
1: 105,574,506 (GRCm39) |
L280* |
probably null |
Het |
Pik3r4 |
T |
G |
9: 105,527,530 (GRCm39) |
I294M |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,506 (GRCm39) |
Q471* |
probably null |
Het |
Prrc2c |
A |
G |
1: 162,520,439 (GRCm39) |
F2006L |
probably damaging |
Het |
Ptger3 |
C |
T |
3: 157,272,808 (GRCm39) |
R52C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,115,325 (GRCm39) |
|
probably benign |
Het |
Sh3bp4 |
T |
C |
1: 89,072,870 (GRCm39) |
F573L |
probably damaging |
Het |
Slc18a2 |
G |
T |
19: 59,251,733 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,857,624 (GRCm39) |
I840F |
probably benign |
Het |
Slc5a4b |
A |
T |
10: 75,908,299 (GRCm39) |
Y364* |
probably null |
Het |
Slitrk1 |
A |
G |
14: 109,149,754 (GRCm39) |
I319T |
probably benign |
Het |
Stxbp5l |
C |
T |
16: 37,028,567 (GRCm39) |
A499T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,861,503 (GRCm39) |
S951R |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,031,381 (GRCm39) |
F478S |
probably benign |
Het |
Tyro3 |
C |
T |
2: 119,635,345 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,042 (GRCm39) |
L232Q |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,315,816 (GRCm39) |
C215S |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,782,043 (GRCm39) |
P1995S |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,790,364 (GRCm39) |
V2106D |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |