Incidental Mutation 'R2289:Klrh1'
| ID |
244208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klrh1
|
| Ensembl Gene |
ENSMUSG00000071158 |
| Gene Name |
killer cell lectin-like receptor subfamily H, member 1 |
| Synonyms |
LOC232415, Gm156 |
| MMRRC Submission |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
129743531-129761233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129745140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 152
(N152S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095409]
[ENSMUST00000118532]
|
| AlphaFold |
Q58A37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095409
AA Change: N152S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000093058
Gene: ENSMUSG00000071158
AA Change: N152S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
CLECT
|
100 |
215 |
2.91e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118532
AA Change: N152S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113766
Gene: ENSMUSG00000071158
AA Change: N152S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
CLECT
|
100 |
178 |
1.85e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
| Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Klrh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0844:Klrh1
|
UTSW |
6 |
129,752,756 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1498:Klrh1
|
UTSW |
6 |
129,748,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1581:Klrh1
|
UTSW |
6 |
129,752,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1866:Klrh1
|
UTSW |
6 |
129,752,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1967:Klrh1
|
UTSW |
6 |
129,752,798 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2384:Klrh1
|
UTSW |
6 |
129,749,343 (GRCm39) |
missense |
probably benign |
|
|
R5192:Klrh1
|
UTSW |
6 |
129,748,721 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5199:Klrh1
|
UTSW |
6 |
129,752,781 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6124:Klrh1
|
UTSW |
6 |
129,745,098 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6290:Klrh1
|
UTSW |
6 |
129,743,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7084:Klrh1
|
UTSW |
6 |
129,743,673 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7472:Klrh1
|
UTSW |
6 |
129,752,345 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7546:Klrh1
|
UTSW |
6 |
129,749,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Klrh1
|
UTSW |
6 |
129,743,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8246:Klrh1
|
UTSW |
6 |
129,752,339 (GRCm39) |
splice site |
probably benign |
|
|
R8924:Klrh1
|
UTSW |
6 |
129,745,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9057:Klrh1
|
UTSW |
6 |
129,752,803 (GRCm39) |
start codon destroyed |
probably benign |
0.09 |
|
R9112:Klrh1
|
UTSW |
6 |
129,743,697 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9713:Klrh1
|
UTSW |
6 |
129,752,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0026:Klrh1
|
UTSW |
6 |
129,745,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Klrh1
|
UTSW |
6 |
129,749,426 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAAGGTATAGTCTAAGTCACAAGGC -3'
(R):5'- ATGCGTGCAACATATCAAGTAC -3'
Sequencing Primer
(F):5'- AAGTCACAAGGCTCTTCCCTTAGG -3'
(R):5'- GAATCTCCAAATCTGACGCTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation