Incidental Mutation 'R6902:Klra9'
| ID |
538584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra9
|
| Ensembl Gene |
ENSMUSG00000033024 |
| Gene Name |
killer cell lectin-like receptor subfamily A, member 9 |
| Synonyms |
Ly49I, LY49I1 |
| MMRRC Submission |
045032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
130155638-130170075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130156003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 251
(I251F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071554]
[ENSMUST00000112032]
|
| AlphaFold |
Q2TJJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071554
AA Change: I251F
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000071485
Gene: ENSMUSG00000033024
AA Change: I251F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112032
AA Change: I251F
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107663
Gene: ENSMUSG00000033024
AA Change: I251F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
73 |
116 |
4e-9 |
BLAST |
|
CLECT
|
143 |
258 |
1.55e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
G |
13: 119,624,680 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,837,434 (GRCm39) |
S773R |
probably damaging |
Het |
| Alkbh5 |
G |
A |
11: 60,429,381 (GRCm39) |
A45T |
probably benign |
Het |
| Ankrd6 |
C |
A |
4: 32,806,419 (GRCm39) |
Q576H |
probably damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,806,420 (GRCm39) |
Q576L |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,804,733 (GRCm39) |
Q1250R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,769,579 (GRCm39) |
N2539T |
probably damaging |
Het |
| Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,273,430 (GRCm39) |
K590E |
probably damaging |
Het |
| Coq9 |
G |
A |
8: 95,577,180 (GRCm39) |
E182K |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,148,713 (GRCm39) |
R477C |
unknown |
Het |
| Gja10 |
G |
T |
4: 32,601,905 (GRCm39) |
H160N |
probably damaging |
Het |
| Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,785,234 (GRCm39) |
T1495A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,953,192 (GRCm39) |
S503T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,911 (GRCm39) |
C150S |
probably damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,840,314 (GRCm39) |
N294S |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,857,625 (GRCm39) |
T3075P |
probably damaging |
Het |
| Lrfn1 |
T |
G |
7: 28,159,238 (GRCm39) |
C386G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,289,847 (GRCm39) |
D3664G |
probably damaging |
Het |
| Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
| Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
G |
A |
8: 93,563,545 (GRCm39) |
V340M |
probably damaging |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,447 (GRCm39) |
I35F |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,809,756 (GRCm39) |
I613F |
possibly damaging |
Het |
| Nicol1 |
G |
A |
5: 34,140,923 (GRCm39) |
|
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,114,995 (GRCm39) |
C125* |
probably null |
Het |
| Or51f1e |
A |
T |
7: 102,747,562 (GRCm39) |
I205F |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
| Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
| Papolb |
T |
A |
5: 142,513,906 (GRCm39) |
H579L |
probably benign |
Het |
| Pcf11 |
C |
A |
7: 92,307,507 (GRCm39) |
G887V |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,829 (GRCm39) |
S524P |
possibly damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,300 (GRCm39) |
|
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,192,645 (GRCm39) |
V365I |
probably benign |
Het |
| Shank1 |
T |
A |
7: 44,006,239 (GRCm39) |
F1985L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,097,665 (GRCm39) |
I421V |
possibly damaging |
Het |
| Slc2a6 |
C |
T |
2: 26,913,172 (GRCm39) |
V374M |
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,181,078 (GRCm39) |
N293K |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,031,605 (GRCm39) |
D366E |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,958,444 (GRCm39) |
S266P |
probably damaging |
Het |
| Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
| Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
| Vti1a |
A |
T |
19: 55,487,673 (GRCm39) |
|
probably null |
Het |
| Zfp961 |
A |
G |
8: 72,722,522 (GRCm39) |
K345R |
probably damaging |
Het |
|
| Other mutations in Klra9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Klra9
|
APN |
6 |
130,156,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00685:Klra9
|
APN |
6 |
130,159,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Klra9
|
APN |
6 |
130,166,729 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01704:Klra9
|
APN |
6 |
130,166,744 (GRCm39) |
nonsense |
probably null |
|
|
IGL02510:Klra9
|
APN |
6 |
130,168,185 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02728:Klra9
|
APN |
6 |
130,168,149 (GRCm39) |
splice site |
probably null |
|
|
IGL02792:Klra9
|
APN |
6 |
130,165,643 (GRCm39) |
missense |
probably benign |
0.19 |
|
Ashen
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Klra9
|
UTSW |
6 |
130,159,366 (GRCm39) |
missense |
probably benign |
0.37 |
|
PIT4453001:Klra9
|
UTSW |
6 |
130,168,284 (GRCm39) |
start gained |
probably benign |
|
|
R0410:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0926:Klra9
|
UTSW |
6 |
130,155,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1712:Klra9
|
UTSW |
6 |
130,166,659 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1897:Klra9
|
UTSW |
6 |
130,162,555 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1972:Klra9
|
UTSW |
6 |
130,159,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3683:Klra9
|
UTSW |
6 |
130,168,260 (GRCm39) |
missense |
probably benign |
|
|
R4066:Klra9
|
UTSW |
6 |
130,165,707 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4687:Klra9
|
UTSW |
6 |
130,162,480 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5062:Klra9
|
UTSW |
6 |
130,156,072 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5184:Klra9
|
UTSW |
6 |
130,165,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5479:Klra9
|
UTSW |
6 |
130,156,075 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5809:Klra9
|
UTSW |
6 |
130,156,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6410:Klra9
|
UTSW |
6 |
130,155,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6433:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6449:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6450:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6464:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6466:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6488:Klra9
|
UTSW |
6 |
130,155,995 (GRCm39) |
nonsense |
probably null |
|
|
R6882:Klra9
|
UTSW |
6 |
130,155,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Klra9
|
UTSW |
6 |
130,156,003 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7204:Klra9
|
UTSW |
6 |
130,165,643 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7229:Klra9
|
UTSW |
6 |
130,168,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7544:Klra9
|
UTSW |
6 |
130,168,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7821:Klra9
|
UTSW |
6 |
130,162,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Klra9
|
UTSW |
6 |
130,165,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Klra9
|
UTSW |
6 |
130,159,368 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9788:Klra9
|
UTSW |
6 |
130,159,385 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGTCCCAATGTTCTTGCAG -3'
(R):5'- AGAGTTTTGGTGTGATAAGAGACC -3'
Sequencing Primer
(F):5'- AGTCCCAATGTTCTTGCAGCTTTG -3'
(R):5'- CATGATGAACTTAGGCTAAACTTAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation