Incidental Mutation 'R2384:Klrh1'
ID |
247639 |
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 |
040358-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R2384 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
129743531-129761233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129749343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 84
(H84L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095409]
[ENSMUST00000118532]
|
AlphaFold |
Q58A37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095409
AA Change: H84L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093058 Gene: ENSMUSG00000071158 AA Change: H84L
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 benign
Transcript: ENSMUST00000118532
AA Change: H84L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113766 Gene: ENSMUSG00000071158 AA Change: H84L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
Cnp |
A |
G |
11: 100,467,279 (GRCm39) |
Y74C |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
probably damaging |
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 |
R2289:Klrh1
|
UTSW |
6 |
129,745,140 (GRCm39) |
missense |
probably null |
0.04 |
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'- GCAACTTCTTCAGTGAAAGCAATG -3'
(R):5'- AGACGTATCTGCATGACCTTC -3'
Sequencing Primer
(F):5'- CTTCTTCAGTGAAAGCAATGTTTTAG -3'
(R):5'- CGTATCTGCATGACCTTCTCTATATC -3'
|
Posted On |
2014-11-11 |