Incidental Mutation 'R1282:H2-K2'
| ID |
151075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2-K2
|
| Ensembl Gene |
ENSMUSG00000067203 |
| Gene Name |
histocompatibility 2, K region locus 2 |
| Synonyms |
H2-K1, H-2K2, H-2K1K, H-2K1 |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34194050-34197764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34218421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 165
(I165S)
|
| 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: I145S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: I145S
| 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: I145S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: I145S
| 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: I165S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: I165S
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
| Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
| Other mutations in H2-K2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02189:H2-K2
|
APN |
17 |
34,218,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGAGGGTTTCTTCTTCCCCAG -3'
(R):5'- GGCAATGAGCAGAGTTTCCGAGTG -3'
Sequencing Primer
(F):5'- TCTTCCCCAGGACTGAGC -3'
(R):5'- CAGAGTTTCCGAGTGGACCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation