Incidental Mutation 'IGL02963:H2-T3'
ID |
365442 |
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 # |
IGL02963
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36496463-36501043 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36500526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134607
(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 damaging
Transcript: ENSMUST00000025312
AA Change: T106A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025312 Gene: ENSMUSG00000054128 AA Change: T106A
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: T106A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099736 Gene: ENSMUSG00000054128 AA Change: T106A
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: T104A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134547 Gene: ENSMUSG00000054128 AA Change: T104A
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: ENSMUST00000173133
AA Change: T106A
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134469 Gene: ENSMUSG00000054128 AA Change: T106A
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 |
probably damaging
Transcript: ENSMUST00000173629
AA Change: T104A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134607 Gene: ENSMUSG00000054128 AA Change: T104A
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: ENSMUST00000173577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173435
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
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 |
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 |
2015-12-18 |