Incidental Mutation 'R4324:H2-K2'
| ID |
323982 |
| 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 |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4324 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34194050-34197764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34219014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 30
(V30M)
|
| 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 benign
Transcript: ENSMUST00000025181
|
| SMART Domains |
Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
| 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 benign
Transcript: ENSMUST00000172912
|
| SMART Domains |
Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
| 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 |
possibly damaging
Transcript: ENSMUST00000173075
AA Change: V30M
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: V30M
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
| Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly damaging |
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 |
|
|
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 |
|
|
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'- GCGGCTCATATCTCGGATTC -3'
(R):5'- CAGAACTCAGAAGTCGCGAATCG -3'
Sequencing Primer
(F):5'- GATTCTCCGCGTCGCTG -3'
(R):5'- TGCGATGGTACCGTGCAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation