Incidental Mutation 'IGL02636:Klrb1c'
ID |
301529 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02636
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
128755448-128765514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 128765515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 25
(C25F)
|
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: C25F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127297 Gene: ENSMUSG00000030325 AA Change: C25F
Domain | Start | End | E-Value | Type |
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
CLECT
|
139 |
256 |
1.65e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172601
|
SMART Domains |
Protein: ENSMUSP00000134184 Gene: ENSMUSG00000030325
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: C25F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134504 Gene: ENSMUSG00000030325 AA Change: C25F
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
|
SMART Domains |
Protein: ENSMUSP00000145481 Gene: ENSMUSG00000107872
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
|
SMART Domains |
Protein: ENSMUSP00000145327 Gene: ENSMUSG00000107872
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
Phykpl |
C |
T |
11: 51,489,540 (GRCm39) |
T382I |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Klrb1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R7697:Klrb1c
|
UTSW |
6 |
128,757,273 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
Posted On |
2015-04-16 |