Incidental Mutation 'H8441:H2-T5'
| ID |
82561 |
| Institutional Source |
Beutler Lab
|
| 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 # |
H8441 (G3)
of strain
599
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36475335-36479429 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36478874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 125
(Q125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040467]
[ENSMUST00000097335]
[ENSMUST00000173353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040467
AA Change: Q97L
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: Q97L
| 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 |
possibly damaging
Transcript: ENSMUST00000097335
AA Change: Q125L
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: Q125L
| 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 benign
Transcript: ENSMUST00000173353
AA Change: Q125L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: Q125L
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
C |
11: 50,675,505 (GRCm39) |
D677A |
probably damaging |
Het |
| Dido1 |
G |
T |
2: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,152,815 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,618,192 (GRCm39) |
D69G |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
| Pomgnt2 |
T |
G |
9: 121,811,650 (GRCm39) |
Y377S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,636,976 (GRCm39) |
I242F |
probably damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,271,355 (GRCm39) |
V535M |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,614,578 (GRCm39) |
D310G |
probably damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,642,474 (GRCm39) |
H276Q |
probably benign |
Het |
| Susd5 |
A |
T |
9: 113,925,253 (GRCm39) |
K379* |
probably null |
Het |
| Tbc1d16 |
C |
A |
11: 119,039,840 (GRCm39) |
E656* |
probably null |
Het |
| Tcp10b |
T |
C |
17: 13,289,748 (GRCm39) |
S234P |
probably damaging |
Het |
| Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,169 (GRCm39) |
E161G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTGCTCCCGAACCTAGACTTG -3'
(R):5'- ACACTCGATGCGGTATTTCACCAC -3'
Sequencing Primer
(F):5'- CGAACCTAGACTTGGGACTG -3'
(R):5'- GGTATTTCACCACCGCAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation