Incidental Mutation 'R6854:Klrb1c'
| ID |
535145 |
| 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 |
| MMRRC Submission |
044957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128755448-128765514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128765381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 70
(S70P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000167691
AA Change: S70P
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: S70P
| 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: S23P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
CLECT
|
90 |
207 |
1.65e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174404
AA Change: S70P
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: S70P
| 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
AA Change: S54P
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134055
Gene: ENSMUSG00000030325
AA Change: S54P
| 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 |
|
| Meta Mutation Damage Score |
0.0980 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
| BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
| Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
| Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
| Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
| Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
| Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
| Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
| Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
| Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
| Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
| Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
G |
A |
5: 117,476,472 (GRCm39) |
V309I |
probably benign |
Het |
| Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGTTTCACACTGACTGACTG -3'
(R):5'- CCCTCAGAGACAGGAATCAGTG -3'
Sequencing Primer
(F):5'- CACACTGACTGACTGATTAAAGATGG -3'
(R):5'- TCAGTGGGTGTGGGAACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation