Incidental Mutation 'R8789:Klrb1c'
| ID |
670811 |
| 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 |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8789 (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 128761148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 160
(S160P)
|
| 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: S157P
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: S157P
| 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: S107P
| 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: S160P
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: S160P
| 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: S112P
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: S112P
| 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
AA Change: S103P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: S103P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
CLECT
|
85 |
185 |
1e-14 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
R7697:Klrb1c
|
UTSW |
6 |
128,757,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7946:Klrb1c
|
UTSW |
6 |
128,766,072 (GRCm39) |
intron |
probably benign |
|
|
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'- CCAATTAGTCTTTCACACTATGAGC -3'
(R):5'- GCTCCTGCACATGTTAATAAAAGTG -3'
Sequencing Primer
(F):5'- TAAAGTCTCCATTTCCTTTGTGTGG -3'
(R):5'- AGTGTGGGTTAGTAAAAACTACTGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation