Incidental Mutation 'IGL01818:H2-T24'
| ID |
154453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-T24
|
| Ensembl Gene |
ENSMUSG00000053835 |
| Gene Name |
histocompatibility 2, T region locus 24 |
| Synonyms |
H-2T24 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01818
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 36328128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
| AlphaFold |
F8VQG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113760
|
| SMART Domains |
Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
18 |
204 |
3.2e-46 |
PFAM |
|
IGc1
|
223 |
294 |
2.61e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174063
|
| SMART Domains |
Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MHC_I
|
18 |
114 |
1.3e-23 |
PFAM |
|
| 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 |
|---|
| Agrp |
T |
C |
8: 106,294,018 (GRCm39) |
D35G |
probably benign |
Het |
| C3ar1 |
T |
C |
6: 122,827,378 (GRCm39) |
N280D |
probably benign |
Het |
| Ccpg1 |
A |
G |
9: 72,904,735 (GRCm39) |
T15A |
probably damaging |
Het |
| Chmp7 |
A |
G |
14: 69,956,616 (GRCm39) |
V361A |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,889,604 (GRCm39) |
K721M |
probably damaging |
Het |
| Elmod3 |
T |
C |
6: 72,563,490 (GRCm39) |
E46G |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,660,701 (GRCm39) |
D7G |
unknown |
Het |
| Hal |
A |
T |
10: 93,326,846 (GRCm39) |
T161S |
probably damaging |
Het |
| Htr1d |
A |
G |
4: 136,170,197 (GRCm39) |
E142G |
probably benign |
Het |
| Minar1 |
T |
C |
9: 89,483,366 (GRCm39) |
E677G |
probably damaging |
Het |
| Mrps31 |
T |
C |
8: 22,901,483 (GRCm39) |
M1T |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,386,709 (GRCm39) |
L628P |
probably damaging |
Het |
| Oosp2 |
T |
C |
19: 11,627,053 (GRCm39) |
N90S |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 72,003,077 (GRCm39) |
|
probably benign |
Het |
| Ppox |
A |
T |
1: 171,108,318 (GRCm39) |
I6K |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,805,766 (GRCm39) |
Q690K |
probably benign |
Het |
| Stat1 |
T |
C |
1: 52,190,437 (GRCm39) |
I564T |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,664,592 (GRCm39) |
I539F |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,594 (GRCm39) |
R35G |
possibly damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,267 (GRCm39) |
C343S |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,891,838 (GRCm39) |
L736S |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,109 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H2-T24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:H2-T24
|
APN |
17 |
36,328,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:H2-T24
|
APN |
17 |
36,328,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:H2-T24
|
APN |
17 |
36,326,368 (GRCm39) |
nonsense |
probably null |
|
|
IGL03387:H2-T24
|
APN |
17 |
36,317,671 (GRCm39) |
missense |
unknown |
|
|
R0131:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0131:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0132:H2-T24
|
UTSW |
17 |
36,325,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0334:H2-T24
|
UTSW |
17 |
36,325,772 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0531:H2-T24
|
UTSW |
17 |
36,326,463 (GRCm39) |
missense |
probably benign |
|
|
R0678:H2-T24
|
UTSW |
17 |
36,328,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:H2-T24
|
UTSW |
17 |
36,325,888 (GRCm39) |
nonsense |
probably null |
|
|
R1310:H2-T24
|
UTSW |
17 |
36,325,888 (GRCm39) |
nonsense |
probably null |
|
|
R1726:H2-T24
|
UTSW |
17 |
36,326,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3891:H2-T24
|
UTSW |
17 |
36,326,330 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3948:H2-T24
|
UTSW |
17 |
36,328,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:H2-T24
|
UTSW |
17 |
36,328,370 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4182:H2-T24
|
UTSW |
17 |
36,326,376 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4229:H2-T24
|
UTSW |
17 |
36,325,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5220:H2-T24
|
UTSW |
17 |
36,325,562 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6257:H2-T24
|
UTSW |
17 |
36,325,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7081:H2-T24
|
UTSW |
17 |
36,328,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7543:H2-T24
|
UTSW |
17 |
36,325,743 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7739:H2-T24
|
UTSW |
17 |
36,325,483 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8323:H2-T24
|
UTSW |
17 |
36,328,431 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8358:H2-T24
|
UTSW |
17 |
36,328,229 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9231:H2-T24
|
UTSW |
17 |
36,331,363 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9275:H2-T24
|
UTSW |
17 |
36,328,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9594:H2-T24
|
UTSW |
17 |
36,326,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9706:H2-T24
|
UTSW |
17 |
36,325,735 (GRCm39) |
missense |
probably benign |
0.32 |
|
V8831:H2-T24
|
UTSW |
17 |
36,328,216 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-02-04 |
Incidental Mutation