Incidental Mutation 'R5192:Klrh1'
ID |
405087 |
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 |
042768-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R5192 (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 129748721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 99
(T99A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095409]
[ENSMUST00000118532]
|
AlphaFold |
Q58A37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095409
AA Change: T99A
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000093058 Gene: ENSMUSG00000071158 AA Change: T99A
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: T99A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113766 Gene: ENSMUSG00000071158 AA Change: T99A
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: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
Babam1 |
T |
C |
8: 71,856,897 (GRCm39) |
V286A |
probably damaging |
Het |
Becn2 |
A |
G |
1: 175,748,408 (GRCm39) |
D158G |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,968,075 (GRCm39) |
I853T |
probably benign |
Het |
Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,925,185 (GRCm39) |
T3883A |
possibly damaging |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
Gm9988 |
T |
C |
8: 88,865,001 (GRCm39) |
|
probably benign |
Het |
Gstm1 |
A |
G |
3: 107,922,259 (GRCm39) |
|
probably null |
Het |
Hsfy2 |
T |
A |
1: 56,675,894 (GRCm39) |
K214N |
probably benign |
Het |
Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
Marchf10 |
T |
C |
11: 105,262,752 (GRCm39) |
H735R |
possibly damaging |
Het |
Myo1g |
T |
C |
11: 6,464,816 (GRCm39) |
D486G |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
Or8b1 |
T |
C |
9: 38,400,101 (GRCm39) |
Y259H |
possibly damaging |
Het |
Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
Prep |
T |
C |
10: 45,029,207 (GRCm39) |
Y536H |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Tmtc2 |
G |
A |
10: 105,026,038 (GRCm39) |
P810L |
probably damaging |
Het |
Tollip |
C |
T |
7: 141,445,854 (GRCm39) |
R9H |
probably damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,077,363 (GRCm39) |
S268T |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,120,497 (GRCm39) |
V472A |
possibly damaging |
Het |
Zfp608 |
C |
A |
18: 55,031,569 (GRCm39) |
K790N |
probably damaging |
Het |
Zfp661 |
A |
G |
2: 127,418,982 (GRCm39) |
V386A |
possibly 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 |
R2384:Klrh1
|
UTSW |
6 |
129,749,343 (GRCm39) |
missense |
probably benign |
|
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'- TGATTCCGTTAAGCAGTAGAGG -3'
(R):5'- ACAAACTCCTCAGATGTCTCAG -3'
Sequencing Primer
(F):5'- ATCATTGCACAACCATACTTCTTG -3'
(R):5'- GCAGAAGAGGTATGCTCA -3'
|
Posted On |
2016-07-22 |