Incidental Mutation 'V1662:H2-T9'
| ID |
63503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-T9
|
| Ensembl Gene |
|
| Gene Name |
histocompatibility 2, T region locus 9 |
| Synonyms |
H-2T9, H2-T25, Gm7030 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
114 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36349299-36432318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36439823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 104
(Y104H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046131]
[ENSMUST00000172968]
[ENSMUST00000173128]
[ENSMUST00000173322]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046131
AA Change: Y104H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000040558
Gene: ENSMUSG00000092243
AA Change: Y104H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
|
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172968
AA Change: Y104H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133748
Gene: ENSMUSG00000092243
AA Change: Y104H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
1.5e-80 |
PFAM |
|
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173128
|
| SMART Domains |
Protein: ENSMUSP00000134339
Gene: ENSMUSG00000092277
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173322
AA Change: Y104H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133734
Gene: ENSMUSG00000092243
AA Change: Y104H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
26 |
204 |
2.3e-81 |
PFAM |
|
IGc1
|
220 |
285 |
8.12e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,091 (GRCm39) |
R82G |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or5m13 |
C |
A |
2: 85,748,938 (GRCm39) |
T223K |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
| Rpusd4 |
C |
A |
9: 35,184,057 (GRCm39) |
S237R |
probably benign |
Het |
| Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,245 (GRCm39) |
I249T |
possibly damaging |
Het |
|
| Other mutations in H2-T9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02997:H2-T9
|
APN |
17 |
36,438,728 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03154:H2-T9
|
APN |
17 |
36,438,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03170:H2-T9
|
APN |
17 |
36,439,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:H2-T9
|
APN |
17 |
36,438,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:H2-T9
|
UTSW |
17 |
36,439,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0666:H2-T9
|
UTSW |
17 |
36,438,726 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1981:H2-T9
|
UTSW |
17 |
36,439,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1982:H2-T9
|
UTSW |
17 |
36,439,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3110:H2-T9
|
UTSW |
17 |
36,440,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:H2-T9
|
UTSW |
17 |
36,440,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:H2-T9
|
UTSW |
17 |
36,438,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5023:H2-T9
|
UTSW |
17 |
36,420,307 (GRCm39) |
unclassified |
probably benign |
|
|
R5146:H2-T9
|
UTSW |
17 |
36,439,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:H2-T9
|
UTSW |
17 |
36,422,179 (GRCm39) |
intron |
probably benign |
|
|
R6628:H2-T9
|
UTSW |
17 |
36,439,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7123:H2-T9
|
UTSW |
17 |
36,438,686 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7244:H2-T9
|
UTSW |
17 |
36,438,496 (GRCm39) |
splice site |
probably null |
|
|
R7880:H2-T9
|
UTSW |
17 |
36,438,761 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8118:H2-T9
|
UTSW |
17 |
36,438,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8926:H2-T9
|
UTSW |
17 |
36,420,626 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACGTAGCATCCGTGCATATC -3'
(R):5'- ATTTCGCCACTGCCATGTCCAG -3'
Sequencing Primer
(F):5'- CATCCGTGCATATCCTGGATAG -3'
(R):5'- ATGTCCAGGCCAGGCTTAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation