Incidental Mutation 'IGL02978:H2-T22'
| ID |
406454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-T22
|
| Ensembl Gene |
ENSMUSG00000056116 |
| Gene Name |
histocompatibility 2, T region locus 22 |
| Synonyms |
H2-T17, H-2T17, H-2T22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36348020-36353634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36352517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 136
(L136H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058801]
[ENSMUST00000077960]
[ENSMUST00000080015]
[ENSMUST00000097331]
[ENSMUST00000173280]
|
| AlphaFold |
Q31615 |
| PDB Structure |
Immune receptor [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058801
AA Change: L136H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: L136H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
5.8e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077960
AA Change: L136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: L136H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
4e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080015
AA Change: L136H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: L136H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
29 |
191 |
7.3e-47 |
PFAM |
|
IGc1
|
210 |
281 |
2.06e-23 |
SMART |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097331
|
| SMART Domains |
Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172633
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
Het |
|
| Other mutations in H2-T22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:H2-T22
|
APN |
17 |
36,352,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0078:H2-T22
|
UTSW |
17 |
36,351,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0448:H2-T22
|
UTSW |
17 |
36,353,278 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1402:H2-T22
|
UTSW |
17 |
36,351,161 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1402:H2-T22
|
UTSW |
17 |
36,351,161 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1592:H2-T22
|
UTSW |
17 |
36,352,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1830:H2-T22
|
UTSW |
17 |
36,352,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:H2-T22
|
UTSW |
17 |
36,351,409 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2116:H2-T22
|
UTSW |
17 |
36,349,949 (GRCm39) |
splice site |
probably null |
|
|
R2964:H2-T22
|
UTSW |
17 |
36,351,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:H2-T22
|
UTSW |
17 |
36,351,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3425:H2-T22
|
UTSW |
17 |
36,352,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:H2-T22
|
UTSW |
17 |
36,351,195 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4614:H2-T22
|
UTSW |
17 |
36,351,429 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4691:H2-T22
|
UTSW |
17 |
36,352,462 (GRCm39) |
frame shift |
probably null |
|
|
R4870:H2-T22
|
UTSW |
17 |
36,349,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:H2-T22
|
UTSW |
17 |
36,352,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:H2-T22
|
UTSW |
17 |
36,350,113 (GRCm39) |
nonsense |
probably null |
|
|
R5995:H2-T22
|
UTSW |
17 |
36,352,377 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7379:H2-T22
|
UTSW |
17 |
36,353,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7597:H2-T22
|
UTSW |
17 |
36,351,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:H2-T22
|
UTSW |
17 |
36,352,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8861:H2-T22
|
UTSW |
17 |
36,353,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9661:H2-T22
|
UTSW |
17 |
36,353,371 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:H2-T22
|
UTSW |
17 |
36,352,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation