Incidental Mutation 'R7697:Klrb1c'
ID |
593709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klrb1c
|
Ensembl Gene |
ENSMUSG00000030325 |
Gene Name |
killer cell lectin-like receptor subfamily B member 1C |
Synonyms |
Ly55c, Nk1.1, Ly59, Nk-1, Nkrp1-c, Nk1, CD161, Nk-1.2, Ly-59, NKR-P1, NK-RP1, NK-1.1, NKR-P1C |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R7697 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
128755448-128765514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128757273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 264
(H264R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167691]
[ENSMUST00000174404]
[ENSMUST00000174865]
[ENSMUST00000204394]
[ENSMUST00000204423]
[ENSMUST00000204677]
[ENSMUST00000204756]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167691
AA Change: H261R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000127297 Gene: ENSMUSG00000030325 AA Change: H261R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
CLECT
|
139 |
256 |
1.65e-25 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000134184 Gene: ENSMUSG00000030325 AA Change: H211R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
CLECT
|
90 |
207 |
1.65e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174404
AA Change: H264R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134504 Gene: ENSMUSG00000030325 AA Change: H264R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
CLECT
|
142 |
259 |
1.65e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174865
|
SMART Domains |
Protein: ENSMUSP00000134055 Gene: ENSMUSG00000030325
Domain | Start | End | E-Value | Type |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204394
AA Change: H216R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000145481 Gene: ENSMUSG00000107872 AA Change: H216R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
CLECT
|
94 |
211 |
8.5e-28 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204423
AA Change: H216R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000145327 Gene: ENSMUSG00000107872 AA Change: H216R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
CLECT
|
94 |
211 |
8.7e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204677
|
SMART Domains |
Protein: ENSMUSP00000145287 Gene: ENSMUSG00000107872
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
PDB:3M9Z|A
|
89 |
144 |
2e-30 |
PDB |
SCOP:d1e87a_
|
94 |
143 |
2e-12 |
SMART |
Blast:CLECT
|
94 |
144 |
3e-30 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204756
|
SMART Domains |
Protein: ENSMUSP00000144777 Gene: ENSMUSG00000107872
Domain | Start | End | E-Value | Type |
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
CLECT
|
85 |
185 |
1e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: This locus controls an antigen on natural killer cells. The a allele determines the Nk1.1 antigen in strains CE, C57BL/6, C57BR/cd, C57L, C58, DBA/1, MA/My, NZB, SJL, SM and B10.D2. The b allele determines the Nk1.2 antigen in strains CBA/J, BALB/c, C3H/He, A/J, DBA/2, LP and 129. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
T |
C |
14: 54,500,216 (GRCm39) |
V87A |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,031,698 (GRCm39) |
E178G |
probably damaging |
Het |
Acoxl |
A |
G |
2: 127,820,702 (GRCm39) |
T365A |
probably benign |
Het |
Adcy8 |
T |
G |
15: 64,618,850 (GRCm39) |
I768L |
probably benign |
Het |
Bloc1s4 |
A |
G |
5: 36,905,959 (GRCm39) |
S11P |
probably benign |
Het |
Brinp2 |
T |
C |
1: 158,095,496 (GRCm39) |
I122V |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,847,601 (GRCm39) |
D673G |
probably benign |
Het |
Cbx8 |
C |
A |
11: 118,931,637 (GRCm39) |
E14* |
probably null |
Het |
Cep295 |
T |
A |
9: 15,266,006 (GRCm39) |
M49L |
probably benign |
Het |
Cfap157 |
T |
C |
2: 32,669,765 (GRCm39) |
N273D |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,185,127 (GRCm39) |
V663E |
probably damaging |
Het |
Cntn3 |
C |
T |
6: 102,185,128 (GRCm39) |
V663M |
probably damaging |
Het |
Cspg5 |
G |
C |
9: 110,085,294 (GRCm39) |
R488S |
probably damaging |
Het |
Csrnp2 |
A |
T |
15: 100,385,953 (GRCm39) |
M95K |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,566,657 (GRCm39) |
V136E |
|
Het |
Drg2 |
T |
A |
11: 60,353,003 (GRCm39) |
I212N |
probably damaging |
Het |
Egfem1 |
T |
C |
3: 29,744,346 (GRCm39) |
|
probably null |
Het |
Eif1ad18 |
T |
C |
12: 88,050,749 (GRCm39) |
Y95H |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,102,750 (GRCm39) |
D402V |
probably damaging |
Het |
Fanci |
T |
A |
7: 79,056,040 (GRCm39) |
|
probably null |
Het |
Fgd6 |
T |
A |
10: 93,881,306 (GRCm39) |
V720D |
probably damaging |
Het |
Fhod1 |
T |
A |
8: 106,074,563 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
A |
6: 29,456,516 (GRCm39) |
I2238N |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,488,892 (GRCm39) |
E79G |
probably damaging |
Het |
Gabrr2 |
A |
T |
4: 33,071,358 (GRCm39) |
Y66F |
probably benign |
Het |
Ggnbp1 |
T |
G |
17: 27,249,736 (GRCm39) |
I192S |
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,058,901 (GRCm39) |
V1039I |
probably benign |
Het |
H2-D1 |
T |
C |
17: 35,482,121 (GRCm39) |
L11P |
probably damaging |
Het |
Hsd17b4 |
A |
G |
18: 50,263,208 (GRCm39) |
Y25C |
probably damaging |
Het |
Ildr2 |
C |
A |
1: 166,122,300 (GRCm39) |
Q248K |
probably benign |
Het |
Lrp11 |
C |
T |
10: 7,479,983 (GRCm39) |
A346V |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,711 (GRCm39) |
P1319L |
probably damaging |
Het |
Mcm9 |
A |
C |
10: 53,491,990 (GRCm39) |
F392V |
|
Het |
Med12l |
C |
T |
3: 59,148,078 (GRCm39) |
A965V |
probably damaging |
Het |
Mrps7 |
A |
G |
11: 115,495,701 (GRCm39) |
T80A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,765 (GRCm39) |
Y2125* |
probably null |
Het |
Myoc |
A |
G |
1: 162,475,049 (GRCm39) |
E200G |
probably damaging |
Het |
Natd1 |
A |
G |
11: 60,797,808 (GRCm39) |
V39A |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,789,159 (GRCm39) |
T486I |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,645 (GRCm39) |
Y261C |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,157 (GRCm39) |
Q98R |
probably damaging |
Het |
Or2c1 |
G |
A |
16: 3,657,430 (GRCm39) |
V198M |
probably damaging |
Het |
Or5aq6 |
T |
A |
2: 86,923,162 (GRCm39) |
H193L |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,221,544 (GRCm39) |
I152N |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,065,885 (GRCm39) |
E1395G |
unknown |
Het |
Polr2b |
T |
C |
5: 77,468,059 (GRCm39) |
Y120H |
probably damaging |
Het |
Pyroxd2 |
C |
T |
19: 42,735,805 (GRCm39) |
C99Y |
probably benign |
Het |
Rela |
T |
C |
19: 5,691,630 (GRCm39) |
V268A |
probably damaging |
Het |
Rgs3 |
C |
T |
4: 62,575,379 (GRCm39) |
P589S |
probably benign |
Het |
Rtn1 |
A |
G |
12: 72,455,151 (GRCm39) |
S59P |
probably benign |
Het |
Siae |
A |
G |
9: 37,544,950 (GRCm39) |
Y315C |
probably damaging |
Het |
Susd3 |
C |
A |
13: 49,391,074 (GRCm39) |
W147L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,702,047 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,728,030 (GRCm39) |
Y131C |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,677,104 (GRCm39) |
P2011L |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,316,990 (GRCm39) |
E1853G |
possibly damaging |
Het |
Wls |
C |
A |
3: 159,616,955 (GRCm39) |
H331Q |
probably benign |
Het |
Xkr6 |
C |
A |
14: 63,844,628 (GRCm39) |
P217Q |
probably damaging |
Het |
|
Other mutations in Klrb1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02636:Klrb1c
|
APN |
6 |
128,765,515 (GRCm39) |
missense |
probably benign |
0.01 |
Eccentric
|
UTSW |
6 |
128,761,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
Freakish
|
UTSW |
6 |
128,761,148 (GRCm39) |
missense |
probably benign |
0.38 |
Unnatural
|
UTSW |
6 |
128,761,174 (GRCm39) |
missense |
probably benign |
0.09 |
wacky
|
UTSW |
6 |
128,757,306 (GRCm39) |
missense |
probably damaging |
1.00 |
Weird
|
UTSW |
6 |
128,761,220 (GRCm39) |
missense |
probably benign |
0.00 |
Wild
|
UTSW |
6 |
128,762,968 (GRCm39) |
missense |
probably benign |
0.09 |
R0463:Klrb1c
|
UTSW |
6 |
128,757,366 (GRCm39) |
missense |
probably benign |
0.07 |
R3157:Klrb1c
|
UTSW |
6 |
128,761,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3779:Klrb1c
|
UTSW |
6 |
128,757,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R5111:Klrb1c
|
UTSW |
6 |
128,762,968 (GRCm39) |
missense |
probably benign |
0.09 |
R5149:Klrb1c
|
UTSW |
6 |
128,760,670 (GRCm39) |
missense |
probably benign |
0.07 |
R5196:Klrb1c
|
UTSW |
6 |
128,757,262 (GRCm39) |
missense |
probably benign |
0.00 |
R5568:Klrb1c
|
UTSW |
6 |
128,765,877 (GRCm39) |
intron |
probably benign |
|
R5620:Klrb1c
|
UTSW |
6 |
128,761,706 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6000:Klrb1c
|
UTSW |
6 |
128,761,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R6483:Klrb1c
|
UTSW |
6 |
128,761,148 (GRCm39) |
missense |
probably benign |
0.38 |
R6854:Klrb1c
|
UTSW |
6 |
128,765,381 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7283:Klrb1c
|
UTSW |
6 |
128,761,220 (GRCm39) |
missense |
probably benign |
0.00 |
R7946:Klrb1c
|
UTSW |
6 |
128,766,072 (GRCm39) |
intron |
probably benign |
|
R8789:Klrb1c
|
UTSW |
6 |
128,761,148 (GRCm39) |
missense |
probably benign |
0.38 |
R9665:Klrb1c
|
UTSW |
6 |
128,760,625 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Klrb1c
|
UTSW |
6 |
128,765,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACCAGGGCTTCTTTGC -3'
(R):5'- GATGGCCAACTCAGGAGAATTATAG -3'
Sequencing Primer
(F):5'- ACCAGGGCTTCTTTGCATAGAAC -3'
(R):5'- TAGAAAATCCTAAACACTAAGGGCG -3'
|
Posted On |
2019-11-12 |