Incidental Mutation 'IGL02189:H2-K2'
| ID |
283766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H2-K2
|
| Ensembl Gene |
ENSMUSG00000067203 |
| Gene Name |
histocompatibility 2, K region locus 2 |
| Synonyms |
H2-K1, H-2K2, H-2K1K, H-2K1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL02189
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34194050-34197764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34218466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 150
(L150P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025181]
[ENSMUST00000087189]
[ENSMUST00000172912]
[ENSMUST00000173075]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025181
AA Change: L130P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
1.4e-95 |
PFAM |
|
IGc1
|
219 |
290 |
9.98e-22 |
SMART |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
335 |
359 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087189
|
| SMART Domains |
Protein: ENSMUSP00000084436
Gene: ENSMUSG00000061232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
IGc1
|
37 |
108 |
9.98e-22 |
SMART |
|
low complexity region
|
124 |
143 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
152 |
177 |
5.9e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172782
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172912
AA Change: L130P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: L130P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
22 |
200 |
6.7e-97 |
PFAM |
|
IGc1
|
219 |
290 |
9.98e-22 |
SMART |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_C
|
334 |
359 |
9.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173075
AA Change: L150P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: L150P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:MHC_I
|
42 |
220 |
3.7e-97 |
PFAM |
|
Pfam:C1-set
|
229 |
289 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173602
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
T |
11: 48,838,248 (GRCm39) |
Y780N |
probably benign |
Het |
| Aadacl2 |
T |
C |
3: 59,932,609 (GRCm39) |
S375P |
probably damaging |
Het |
| Abi1 |
A |
C |
2: 22,930,076 (GRCm39) |
M1R |
probably null |
Het |
| Acss1 |
T |
C |
2: 150,471,788 (GRCm39) |
D322G |
probably damaging |
Het |
| Adam22 |
G |
A |
5: 8,380,029 (GRCm39) |
R90W |
possibly damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,275 (GRCm39) |
H515R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,113 (GRCm39) |
K779E |
probably benign |
Het |
| Cfhr2 |
A |
G |
1: 139,749,497 (GRCm39) |
Y162H |
probably damaging |
Het |
| Chchd5 |
T |
C |
2: 128,975,188 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,321,620 (GRCm39) |
I493F |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,993,059 (GRCm39) |
R349S |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,046,314 (GRCm39) |
E1708G |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,056,085 (GRCm39) |
D1753G |
probably damaging |
Het |
| Flt4 |
T |
G |
11: 49,516,830 (GRCm39) |
C206G |
probably damaging |
Het |
| Fscn1 |
G |
T |
5: 142,946,375 (GRCm39) |
A58S |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,618,556 (GRCm39) |
N272K |
probably damaging |
Het |
| Gem |
T |
A |
4: 11,706,121 (GRCm39) |
S70T |
possibly damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,454 (GRCm39) |
I290L |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,226,178 (GRCm39) |
R689G |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,765,630 (GRCm39) |
|
probably null |
Het |
| Klra4 |
T |
A |
6: 130,021,105 (GRCm39) |
D230V |
possibly damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,891,056 (GRCm39) |
K57E |
probably damaging |
Het |
| Lilra5 |
A |
T |
7: 4,240,968 (GRCm39) |
M21L |
probably benign |
Het |
| Lrrc20 |
T |
A |
10: 61,362,887 (GRCm39) |
V44D |
possibly damaging |
Het |
| Mtx1 |
T |
G |
3: 89,116,624 (GRCm39) |
M426L |
probably damaging |
Het |
| Mylk2 |
C |
T |
2: 152,757,074 (GRCm39) |
P283L |
probably damaging |
Het |
| Mynn |
T |
A |
3: 30,667,693 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
G |
T |
1: 150,247,784 (GRCm39) |
N356K |
possibly damaging |
Het |
| Or4c1 |
A |
C |
2: 89,133,641 (GRCm39) |
C98W |
probably damaging |
Het |
| Parl |
T |
A |
16: 20,116,453 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdlim3 |
T |
C |
8: 46,338,630 (GRCm39) |
V5A |
probably damaging |
Het |
| Pld1 |
G |
A |
3: 28,174,932 (GRCm39) |
V857I |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,070,839 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,235,139 (GRCm39) |
S170P |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rps27a |
C |
A |
11: 29,496,772 (GRCm39) |
Q40H |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,585,183 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
G |
T |
17: 28,381,970 (GRCm39) |
C332F |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,351 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,693 (GRCm39) |
E818G |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,597 (GRCm39) |
V262I |
probably benign |
Het |
| Sptbn1 |
T |
A |
11: 30,067,871 (GRCm39) |
D1781V |
probably damaging |
Het |
| Ssr1 |
C |
T |
13: 38,171,492 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,064,283 (GRCm39) |
L2442S |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,507,378 (GRCm39) |
V94D |
possibly damaging |
Het |
| Ttc22 |
A |
T |
4: 106,496,354 (GRCm39) |
H468L |
probably benign |
Het |
| Ttc27 |
C |
T |
17: 75,036,894 (GRCm39) |
T189M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,500 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
G |
2: 76,590,239 (GRCm39) |
I21157L |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,433,276 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in H2-K2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4548:H2-K2
|
UTSW |
17 |
34,216,016 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:H2-K2
|
UTSW |
17 |
34,216,016 (GRCm39) |
unclassified |
probably benign |
|
|
R0254:H2-K2
|
UTSW |
17 |
34,215,639 (GRCm39) |
unclassified |
probably benign |
|
|
R0520:H2-K2
|
UTSW |
17 |
34,216,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:H2-K2
|
UTSW |
17 |
34,218,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:H2-K2
|
UTSW |
17 |
34,218,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:H2-K2
|
UTSW |
17 |
34,194,597 (GRCm39) |
splice site |
noncoding transcript |
|
|
R1282:H2-K2
|
UTSW |
17 |
34,218,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:H2-K2
|
UTSW |
17 |
34,216,322 (GRCm39) |
nonsense |
probably null |
|
|
R2307:H2-K2
|
UTSW |
17 |
34,216,113 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3791:H2-K2
|
UTSW |
17 |
34,218,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3847:H2-K2
|
UTSW |
17 |
34,216,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:H2-K2
|
UTSW |
17 |
34,218,525 (GRCm39) |
splice site |
probably benign |
|
|
R4324:H2-K2
|
UTSW |
17 |
34,219,014 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4470:H2-K2
|
UTSW |
17 |
34,219,035 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4543:H2-K2
|
UTSW |
17 |
34,218,532 (GRCm39) |
splice site |
probably null |
|
|
R4647:H2-K2
|
UTSW |
17 |
34,194,989 (GRCm39) |
splice site |
noncoding transcript |
|
|
R4648:H2-K2
|
UTSW |
17 |
34,194,989 (GRCm39) |
splice site |
noncoding transcript |
|
|
R4858:H2-K2
|
UTSW |
17 |
34,216,298 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4921:H2-K2
|
UTSW |
17 |
34,216,050 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5254:H2-K2
|
UTSW |
17 |
34,216,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:H2-K2
|
UTSW |
17 |
34,215,989 (GRCm39) |
unclassified |
probably benign |
|
|
R6058:H2-K2
|
UTSW |
17 |
34,218,305 (GRCm39) |
missense |
probably benign |
|
|
R6058:H2-K2
|
UTSW |
17 |
34,218,304 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7941:H2-K2
|
UTSW |
17 |
34,218,305 (GRCm39) |
missense |
probably benign |
|
|
R8057:H2-K2
|
UTSW |
17 |
34,215,833 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8938:H2-K2
|
UTSW |
17 |
34,216,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:H2-K2
|
UTSW |
17 |
34,216,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9625:H2-K2
|
UTSW |
17 |
34,218,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation