Incidental Mutation 'R3791:H2-K2'
| ID |
272561 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3791 (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 G
at 34218499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
| 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
AA Change: I119T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: I119T
| 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
AA Change: I119T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: I119T
| 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 benign
Transcript: ENSMUST00000173075
AA Change: I139T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: I139T
| 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: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
|
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'- GAGTCTCTCTGCTTCACCAG -3'
(R):5'- GGCTACTACAACCAGAGCAAGG -3'
Sequencing Primer
(F):5'- AGCCTGCTCCCACTTGTG -3'
(R):5'- CAAGGGCGGTGAGTGACC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation