Incidental Mutation 'R4543:H2-K2'
| ID |
333639 |
| 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 |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34194050-34197764 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 34218532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025181]
[ENSMUST00000025181]
[ENSMUST00000087189]
[ENSMUST00000172912]
[ENSMUST00000172912]
[ENSMUST00000173075]
[ENSMUST00000173075]
[ENSMUST00000173075]
[ENSMUST00000173075]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 |
probably null
Transcript: ENSMUST00000173075
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
| 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 |
probably null
Transcript: ENSMUST00000173075
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
| 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 |
probably null
Transcript: ENSMUST00000173075
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
| 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 |
probably null
Transcript: ENSMUST00000173075
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
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 |
|
|
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 |
|
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'- CCACTTGTGTTTGGTGATCAGC -3'
(R):5'- AGTTTCCGAGTGGACCTGAG -3'
Sequencing Primer
(F):5'- ATCAGCGCCGCCATGTC -3'
(R):5'- TGCTCGGCTACTACAACCAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation