Incidental Mutation 'R0844:Klrh1'
| ID |
77290 |
| 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 |
039023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
129743531-129761233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 129752756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 16
(K16N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095409]
[ENSMUST00000118532]
|
| AlphaFold |
Q58A37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095409
AA Change: K16N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093058
Gene: ENSMUSG00000071158
AA Change: K16N
| 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 |
possibly damaging
Transcript: ENSMUST00000118532
AA Change: K16N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113766
Gene: ENSMUSG00000071158
AA Change: K16N
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
T |
C |
12: 55,126,858 (GRCm39) |
D2G |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,210,658 (GRCm39) |
T174A |
probably benign |
Het |
| Asb2 |
T |
C |
12: 103,291,805 (GRCm39) |
H374R |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,622,532 (GRCm39) |
I511T |
probably damaging |
Het |
| Cnmd |
G |
A |
14: 79,879,391 (GRCm39) |
T249I |
probably benign |
Het |
| Cyp4a12b |
T |
G |
4: 115,289,721 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,440,395 (GRCm39) |
Y1016H |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,388,279 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,530,457 (GRCm39) |
L325P |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,911,353 (GRCm39) |
L393P |
probably damaging |
Het |
| Fdx1 |
G |
T |
9: 51,859,909 (GRCm39) |
D33E |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,395,359 (GRCm39) |
C264R |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 48,977,211 (GRCm39) |
M907K |
possibly damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,339,431 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,743,119 (GRCm39) |
S60L |
probably benign |
Het |
| Naxe |
A |
T |
3: 87,965,715 (GRCm39) |
V28E |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,252 (GRCm39) |
S1654P |
possibly damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,912,101 (GRCm39) |
T324A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tbc1d12 |
G |
T |
19: 38,825,515 (GRCm39) |
R122L |
probably benign |
Het |
| Tmx4 |
A |
G |
2: 134,441,928 (GRCm39) |
|
probably null |
Het |
| Trnt1 |
A |
G |
6: 106,751,464 (GRCm39) |
D147G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,677,428 (GRCm39) |
V463E |
probably damaging |
Het |
| Wdr82 |
G |
A |
9: 106,065,780 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klrh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2289:Klrh1
|
UTSW |
6 |
129,745,140 (GRCm39) |
missense |
probably null |
0.04 |
|
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'- TGAGACCAACAGGCAGAATATATAACAAACAA -3'
(R):5'- TCGAGATCATTCTTTCTACCCAGCTCT -3'
Sequencing Primer
(F):5'- CATTGGCTATTCACCCATAAAAATC -3'
(R):5'- CTATTACTTCATGGTGTGTGTTCAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation