Incidental Mutation 'IGL03387:H2-T24'
ID |
420911 |
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 # |
IGL03387
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
36316587-36331452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36317671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 120
(K120N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113760]
[ENSMUST00000174063]
|
AlphaFold |
F8VQG4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000113760
AA Change: K350M
|
SMART Domains |
Protein: ENSMUSP00000109389 Gene: ENSMUSG00000053835 AA Change: K350M
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 |
unknown
Transcript: ENSMUST00000174063
AA Change: K120N
|
SMART Domains |
Protein: ENSMUSP00000133476 Gene: ENSMUSG00000053835 AA Change: K120N
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,728,796 (GRCm39) |
|
probably null |
Het |
Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
Nanog |
T |
C |
6: 122,688,731 (GRCm39) |
L104P |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,687,238 (GRCm39) |
Y132C |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,640,784 (GRCm39) |
I985T |
probably benign |
Het |
Tmem87b |
T |
C |
2: 128,665,019 (GRCm39) |
V61A |
probably benign |
Het |
Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
possibly 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 |
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 |
|
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 |
2016-08-02 |