Incidental Mutation 'R6000:Klrb1c'
| ID |
480779 |
| 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 |
044179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
128755448-128765514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128761120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 169
(D169A)
|
| 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 damaging
Transcript: ENSMUST00000167691
AA Change: D166A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: D166A
| 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
AA Change: D116A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134184
Gene: ENSMUSG00000030325
AA Change: D116A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
41 |
63 |
N/A |
INTRINSIC |
|
CLECT
|
90 |
207 |
1.65e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174404
AA Change: D169A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: D169A
| 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 damaging
Transcript: ENSMUST00000204394
AA Change: D121A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: D121A
| 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 damaging
Transcript: ENSMUST00000204756
AA Change: D112A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: D112A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
CLECT
|
85 |
185 |
1e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
T |
C |
16: 88,556,427 (GRCm39) |
C214R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,475 (GRCm39) |
K3920* |
probably null |
Het |
| Alox12b |
A |
G |
11: 69,060,394 (GRCm39) |
D650G |
probably damaging |
Het |
| Amt |
A |
T |
9: 108,178,684 (GRCm39) |
Y400F |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,934 (GRCm39) |
S1973P |
possibly damaging |
Het |
| Aoc1 |
A |
T |
6: 48,884,573 (GRCm39) |
T539S |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Ccdc15 |
C |
T |
9: 37,227,060 (GRCm39) |
G292S |
probably benign |
Het |
| Ccdc162 |
C |
T |
10: 41,437,159 (GRCm39) |
C287Y |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,034,296 (GRCm39) |
Y102C |
probably damaging |
Het |
| Cdk15 |
G |
A |
1: 59,328,818 (GRCm39) |
G244D |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,649 (GRCm39) |
Y1560N |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
| Cic |
A |
C |
7: 24,971,423 (GRCm39) |
I385L |
probably benign |
Het |
| Cobl |
A |
T |
11: 12,319,684 (GRCm39) |
F231L |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
| Csnk1g2 |
T |
A |
10: 80,474,778 (GRCm39) |
V305E |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,296,050 (GRCm39) |
|
probably null |
Het |
| Dner |
A |
T |
1: 84,361,650 (GRCm39) |
M653K |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,251,304 (GRCm39) |
M4311K |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,067 (GRCm39) |
S2200P |
unknown |
Het |
| Ephb2 |
A |
T |
4: 136,411,341 (GRCm39) |
S440T |
possibly damaging |
Het |
| Ercc1 |
A |
T |
7: 19,081,086 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,375,142 (GRCm39) |
N615Y |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,038 (GRCm39) |
Y487H |
possibly damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,656,499 (GRCm39) |
I286N |
probably benign |
Het |
| Hr |
A |
G |
14: 70,805,273 (GRCm39) |
D1005G |
probably damaging |
Het |
| Ifrd1 |
C |
A |
12: 40,266,243 (GRCm39) |
V117F |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,934 (GRCm39) |
T210S |
probably benign |
Het |
| Igll1 |
C |
A |
16: 16,681,805 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
T |
2: 119,204,989 (GRCm39) |
S1512R |
probably benign |
Het |
| Intu |
A |
T |
3: 40,608,578 (GRCm39) |
K197* |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,294,424 (GRCm39) |
L1216P |
unknown |
Het |
| Lamp3 |
T |
A |
16: 19,519,698 (GRCm39) |
T162S |
possibly damaging |
Het |
| Mapk10 |
G |
A |
5: 103,114,342 (GRCm39) |
P319S |
probably damaging |
Het |
| Mapk10 |
G |
A |
5: 103,114,341 (GRCm39) |
P319L |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,998,281 (GRCm39) |
T702A |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,100,828 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,387,242 (GRCm39) |
S706P |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,324,766 (GRCm39) |
T579I |
probably damaging |
Het |
| Or13p3 |
A |
T |
4: 118,567,441 (GRCm39) |
N279I |
probably damaging |
Het |
| Or4a27 |
C |
A |
2: 88,559,575 (GRCm39) |
A123S |
probably damaging |
Het |
| Or8s16 |
G |
A |
15: 98,211,317 (GRCm39) |
T38I |
probably benign |
Het |
| Pcdh18 |
A |
C |
3: 49,708,913 (GRCm39) |
S801A |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,848,204 (GRCm39) |
D874E |
probably damaging |
Het |
| Pfdn6 |
G |
T |
17: 34,158,589 (GRCm39) |
P62T |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,900,427 (GRCm39) |
I38T |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,647,561 (GRCm39) |
I3662F |
possibly damaging |
Het |
| Psg26 |
A |
T |
7: 18,216,617 (GRCm39) |
L74* |
probably null |
Het |
| Rassf6 |
A |
G |
5: 90,751,736 (GRCm39) |
V341A |
probably damaging |
Het |
| Rsad2 |
C |
A |
12: 26,497,150 (GRCm39) |
|
probably null |
Het |
| Rwdd3 |
A |
G |
3: 120,950,162 (GRCm39) |
Y95H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,457 (GRCm39) |
I589V |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,434,704 (GRCm39) |
I131N |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,148,239 (GRCm39) |
S389P |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,281,296 (GRCm39) |
I29N |
probably damaging |
Het |
| Tmem63c |
C |
A |
12: 87,103,971 (GRCm39) |
N73K |
probably damaging |
Het |
| Tpm2 |
T |
A |
4: 43,518,301 (GRCm39) |
|
probably null |
Het |
| Trak2 |
A |
T |
1: 58,950,971 (GRCm39) |
D405E |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,575,516 (GRCm39) |
A23380S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,715,495 (GRCm39) |
|
probably benign |
Het |
| Tub |
T |
C |
7: 108,628,857 (GRCm39) |
S391P |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,223 (GRCm39) |
E178* |
probably null |
Het |
| Vamp9 |
G |
T |
5: 100,089,226 (GRCm39) |
A164S |
probably benign |
Het |
| Ylpm1 |
C |
A |
12: 85,044,030 (GRCm39) |
T256K |
unknown |
Het |
| Zfp1007 |
A |
G |
5: 109,824,730 (GRCm39) |
V240A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCAGTTATTGGCTCACATG -3'
(R):5'- CTGCACATGTTAATAAAAGTGTGGG -3'
Sequencing Primer
(F):5'- ATTGGCTCACATGTCCAATTAGTC -3'
(R):5'- AGTGTGGGTTAGTAAAAACTACTGTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation