Incidental Mutation 'IGL02312:H2-T5'
ID |
287825 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
H2-T5
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 5 |
Synonyms |
Gm8909, H2-T26, H-2T5 |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL02312
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36476299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 350
(I350V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040467
AA Change: I322V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000036092 Gene: ENSMUSG00000073402 AA Change: I322V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
26 |
204 |
5.9e-96 |
PFAM |
IGc1
|
223 |
294 |
8.23e-23 |
SMART |
transmembrane domain
|
310 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000090537
|
SMART Domains |
Protein: ENSMUSP00000088025 Gene: ENSMUSG00000038311
Domain | Start | End | E-Value | Type |
SCOP:d2sqca2
|
105 |
173 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097335
AA Change: I350V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000094947 Gene: ENSMUSG00000073402 AA Change: I350V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
54 |
232 |
7.3e-96 |
PFAM |
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173025
|
SMART Domains |
Protein: ENSMUSP00000133655 Gene: ENSMUSG00000038311
Domain | Start | End | E-Value | Type |
SCOP:d2sqca2
|
148 |
216 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173353
AA Change: I350V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000133663 Gene: ENSMUSG00000073402 AA Change: I350V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:MHC_I
|
54 |
232 |
3.9e-93 |
PFAM |
IGc1
|
251 |
322 |
8.23e-23 |
SMART |
transmembrane domain
|
338 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174693
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173648
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
Clint1 |
C |
T |
11: 45,784,883 (GRCm39) |
T294M |
probably damaging |
Het |
Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
Galnt17 |
A |
T |
5: 131,335,371 (GRCm39) |
I23N |
probably benign |
Het |
Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
Hunk |
T |
C |
16: 90,272,829 (GRCm39) |
Y302H |
probably damaging |
Het |
Mybph |
A |
T |
1: 134,125,188 (GRCm39) |
I239F |
probably damaging |
Het |
Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
Pdilt |
G |
A |
7: 119,118,890 (GRCm39) |
T53M |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
Het |
|
Other mutations in H2-T5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:H2-T5
|
APN |
17 |
36,476,246 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00534:H2-T5
|
APN |
17 |
36,479,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03346:H2-T5
|
APN |
17 |
36,479,001 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:H2-T5
|
UTSW |
17 |
36,478,874 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0005:H2-T5
|
UTSW |
17 |
36,473,084 (GRCm39) |
unclassified |
probably benign |
|
R0078:H2-T5
|
UTSW |
17 |
36,476,353 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
R0233:H2-T5
|
UTSW |
17 |
36,478,361 (GRCm39) |
missense |
probably benign |
0.42 |
R0553:H2-T5
|
UTSW |
17 |
36,478,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R0670:H2-T5
|
UTSW |
17 |
36,478,990 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1718:H2-T5
|
UTSW |
17 |
36,472,676 (GRCm39) |
unclassified |
probably benign |
|
R1937:H2-T5
|
UTSW |
17 |
36,478,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:H2-T5
|
UTSW |
17 |
36,478,553 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4393:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
R4396:H2-T5
|
UTSW |
17 |
36,472,861 (GRCm39) |
unclassified |
probably benign |
|
R4409:H2-T5
|
UTSW |
17 |
36,476,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4505:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4506:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4507:H2-T5
|
UTSW |
17 |
36,472,372 (GRCm39) |
unclassified |
probably benign |
|
R4579:H2-T5
|
UTSW |
17 |
36,472,649 (GRCm39) |
unclassified |
probably benign |
|
R4684:H2-T5
|
UTSW |
17 |
36,476,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4740:H2-T5
|
UTSW |
17 |
36,478,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5087:H2-T5
|
UTSW |
17 |
36,476,308 (GRCm39) |
nonsense |
probably null |
|
R5103:H2-T5
|
UTSW |
17 |
36,472,577 (GRCm39) |
unclassified |
probably benign |
|
R5275:H2-T5
|
UTSW |
17 |
36,472,567 (GRCm39) |
splice site |
probably null |
|
R5425:H2-T5
|
UTSW |
17 |
36,479,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:H2-T5
|
UTSW |
17 |
36,478,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6727:H2-T5
|
UTSW |
17 |
36,476,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:H2-T5
|
UTSW |
17 |
36,478,965 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7985:H2-T5
|
UTSW |
17 |
36,478,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:H2-T5
|
UTSW |
17 |
36,479,154 (GRCm39) |
missense |
unknown |
|
R8872:H2-T5
|
UTSW |
17 |
36,476,293 (GRCm39) |
missense |
probably benign |
0.00 |
R9046:H2-T5
|
UTSW |
17 |
36,476,035 (GRCm39) |
critical splice donor site |
probably null |
|
R9296:H2-T5
|
UTSW |
17 |
36,479,169 (GRCm39) |
missense |
unknown |
|
Z1177:H2-T5
|
UTSW |
17 |
36,476,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |