Incidental Mutation 'R0553:H2-T5'
ID |
45305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H2-T5
|
Ensembl Gene |
|
Gene Name |
histocompatibility 2, T region locus 5 |
Synonyms |
Gm8909, H2-T26, H-2T5 |
MMRRC Submission |
038745-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R0553 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36478949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 100
(P100Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040467
AA Change: P72Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036092 Gene: ENSMUSG00000073402 AA Change: P72Q
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: ENSMUST00000090537
|
SMART Domains |
Protein: ENSMUSP00000088025 Gene: ENSMUSG00000038311
Domain | Start | End | E-Value | Type |
SCOP:d2sqca2
|
105 |
173 |
2e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097335
AA Change: P100Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000094947 Gene: ENSMUSG00000073402 AA Change: P100Q
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 |
probably damaging
Transcript: ENSMUST00000173353
AA Change: P100Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133663 Gene: ENSMUSG00000073402 AA Change: P100Q
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: ENSMUST00000173648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174693
|
Meta Mutation Damage Score |
0.6396 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
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 |
IGL02312:H2-T5
|
APN |
17 |
36,476,299 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTGCTCCCGAACCTAGACTTG -3'
(R):5'- ACACTCGATGCGGTATTTCACCAC -3'
Sequencing Primer
(F):5'- CGAACCTAGACTTGGGACTG -3'
(R):5'- GGTATTTCACCACCGCAGTG -3'
|
Posted On |
2013-06-11 |