Incidental Mutation 'IGL02620:H2-T24'
| ID |
300828 |
| 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 # |
IGL02620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36328183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 100
(N100T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
| AlphaFold |
F8VQG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113760
AA Change: N100T
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
AA Change: N100T
| 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 damaging
Transcript: ENSMUST00000174063
AA Change: N100T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835
AA Change: N100T
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,231,943 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,090,094 (GRCm39) |
V4174A |
possibly damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,704 (GRCm39) |
L108* |
probably null |
Het |
| Cdon |
C |
T |
9: 35,364,095 (GRCm39) |
T71I |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,753,096 (GRCm39) |
W2R |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,436,714 (GRCm39) |
L1605V |
probably benign |
Het |
| Cluh |
C |
T |
11: 74,555,893 (GRCm39) |
Q819* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,938,714 (GRCm39) |
|
probably benign |
Het |
| Elk4 |
C |
A |
1: 131,946,109 (GRCm39) |
A329D |
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,786,442 (GRCm39) |
H709R |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,582 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,755,587 (GRCm39) |
D592E |
possibly damaging |
Het |
| Hepacam2 |
C |
A |
6: 3,487,280 (GRCm39) |
|
probably benign |
Het |
| Ighv2-2 |
T |
A |
12: 113,551,912 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,012,789 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,205,525 (GRCm39) |
M540T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,836,582 (GRCm39) |
S82P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,939,476 (GRCm39) |
Y20C |
probably benign |
Het |
| Milr1 |
C |
A |
11: 106,645,744 (GRCm39) |
S95R |
probably damaging |
Het |
| Mtnr1b |
A |
C |
9: 15,785,617 (GRCm39) |
V47G |
possibly damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,843,682 (GRCm39) |
R173S |
possibly damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,825 (GRCm39) |
K81* |
probably null |
Het |
| Phactr2 |
T |
C |
10: 13,167,632 (GRCm39) |
R100G |
probably damaging |
Het |
| Potefam1 |
C |
T |
2: 111,041,970 (GRCm39) |
V322I |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,810 (GRCm39) |
Y997H |
probably damaging |
Het |
| Pramel3a |
A |
G |
X: 134,211,158 (GRCm39) |
M397V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,959,739 (GRCm39) |
K79E |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Raf1 |
A |
T |
6: 115,609,848 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
C |
11: 119,671,413 (GRCm39) |
L292P |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,554 (GRCm39) |
D174G |
probably damaging |
Het |
| Tbcd |
C |
T |
11: 121,352,081 (GRCm39) |
T146M |
probably damaging |
Het |
| Zfp458 |
T |
A |
13: 67,406,058 (GRCm39) |
H127L |
probably damaging |
Het |
|
| Other mutations in H2-T24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01818:H2-T24
|
APN |
17 |
36,328,128 (GRCm39) |
splice site |
probably benign |
|
|
IGL02268:H2-T24
|
APN |
17 |
36,328,264 (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 |
2015-04-16 |
Incidental Mutation