Incidental Mutation 'R2411:Lilra6'
ID |
249985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lilra6
|
Ensembl Gene |
ENSMUSG00000030427 |
Gene Name |
leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 |
Synonyms |
7M1, Pira3 |
MMRRC Submission |
040376-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2411 (G1)
|
Quality Score |
181 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3914453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 566
(Y566C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
AlphaFold |
A0A0B4J1F3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038176
AA Change: Y604C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042636 Gene: ENSMUSG00000030427 AA Change: Y604C
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
IG_like
|
40 |
105 |
3.11e0 |
SMART |
IG
|
129 |
315 |
4.53e-2 |
SMART |
IG_like
|
237 |
302 |
1.54e-1 |
SMART |
IG_like
|
328 |
415 |
1.79e1 |
SMART |
IG_like
|
429 |
517 |
2.66e1 |
SMART |
IG
|
529 |
618 |
8.59e-3 |
SMART |
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090689
AA Change: Y566C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088188 Gene: ENSMUSG00000030427 AA Change: Y566C
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
IG_like
|
34 |
118 |
7.25e0 |
SMART |
IG_like
|
129 |
220 |
1.62e2 |
SMART |
IG_like
|
290 |
377 |
1.79e1 |
SMART |
IG_like
|
391 |
479 |
2.66e1 |
SMART |
IG
|
491 |
580 |
8.59e-3 |
SMART |
low complexity region
|
599 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131255
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206077
AA Change: Y264C
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206851
|
Meta Mutation Damage Score |
0.3459 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
Het |
|
Other mutations in Lilra6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Lilra6
|
APN |
7 |
3,914,553 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00569:Lilra6
|
APN |
7 |
3,917,588 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00899:Lilra6
|
APN |
7 |
3,916,056 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00955:Lilra6
|
APN |
7 |
3,914,403 (GRCm39) |
splice site |
probably benign |
|
IGL01585:Lilra6
|
APN |
7 |
3,917,498 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02195:Lilra6
|
APN |
7 |
3,917,549 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02586:Lilra6
|
APN |
7 |
3,911,819 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02719:Lilra6
|
APN |
7 |
3,915,991 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL03166:Lilra6
|
APN |
7 |
3,915,626 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03329:Lilra6
|
APN |
7 |
3,917,647 (GRCm39) |
splice site |
probably benign |
|
R0233:Lilra6
|
UTSW |
7 |
3,917,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0233:Lilra6
|
UTSW |
7 |
3,917,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0423:Lilra6
|
UTSW |
7 |
3,917,774 (GRCm39) |
splice site |
probably benign |
|
R0483:Lilra6
|
UTSW |
7 |
3,916,138 (GRCm39) |
missense |
probably benign |
0.02 |
R0511:Lilra6
|
UTSW |
7 |
3,915,784 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1472:Lilra6
|
UTSW |
7 |
3,915,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R1560:Lilra6
|
UTSW |
7 |
3,914,407 (GRCm39) |
critical splice donor site |
probably null |
|
R1584:Lilra6
|
UTSW |
7 |
3,915,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Lilra6
|
UTSW |
7 |
3,918,066 (GRCm39) |
missense |
probably benign |
0.28 |
R2420:Lilra6
|
UTSW |
7 |
3,917,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4021:Lilra6
|
UTSW |
7 |
3,914,417 (GRCm39) |
missense |
probably benign |
0.20 |
R4074:Lilra6
|
UTSW |
7 |
3,917,889 (GRCm39) |
missense |
probably benign |
0.23 |
R4284:Lilra6
|
UTSW |
7 |
3,911,803 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4508:Lilra6
|
UTSW |
7 |
3,915,028 (GRCm39) |
nonsense |
probably null |
|
R4894:Lilra6
|
UTSW |
7 |
3,915,530 (GRCm39) |
missense |
probably benign |
0.01 |
R4977:Lilra6
|
UTSW |
7 |
3,917,382 (GRCm39) |
missense |
probably benign |
0.01 |
R5048:Lilra6
|
UTSW |
7 |
3,918,440 (GRCm39) |
critical splice donor site |
probably null |
|
R5164:Lilra6
|
UTSW |
7 |
3,917,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R5185:Lilra6
|
UTSW |
7 |
3,917,635 (GRCm39) |
missense |
probably benign |
0.00 |
R5527:Lilra6
|
UTSW |
7 |
3,917,586 (GRCm39) |
start gained |
probably benign |
|
R6281:Lilra6
|
UTSW |
7 |
3,914,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R6480:Lilra6
|
UTSW |
7 |
3,915,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R6512:Lilra6
|
UTSW |
7 |
3,917,387 (GRCm39) |
missense |
probably benign |
0.06 |
R6565:Lilra6
|
UTSW |
7 |
3,918,019 (GRCm39) |
missense |
probably benign |
|
R7017:Lilra6
|
UTSW |
7 |
3,911,707 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7095:Lilra6
|
UTSW |
7 |
3,916,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Lilra6
|
UTSW |
7 |
3,915,995 (GRCm39) |
missense |
probably benign |
0.16 |
R8056:Lilra6
|
UTSW |
7 |
3,915,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R8280:Lilra6
|
UTSW |
7 |
3,916,046 (GRCm39) |
missense |
probably benign |
0.01 |
R9197:Lilra6
|
UTSW |
7 |
3,915,716 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9354:Lilra6
|
UTSW |
7 |
3,914,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Lilra6
|
UTSW |
7 |
3,916,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Lilra6
|
UTSW |
7 |
3,917,853 (GRCm39) |
missense |
probably benign |
|
R9462:Lilra6
|
UTSW |
7 |
3,914,994 (GRCm39) |
missense |
probably damaging |
0.97 |
R9649:Lilra6
|
UTSW |
7 |
3,917,521 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1176:Lilra6
|
UTSW |
7 |
3,918,073 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Lilra6
|
UTSW |
7 |
3,915,580 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCCTGTTATGTGCTGACGAATG -3'
(R):5'- TGCAGCCTAACCACACAGTG -3'
Sequencing Primer
(F):5'- GCTGACGAATGTGCCTATGTCTAAC -3'
(R):5'- CAGTGCACTCAGGAGAGACC -3'
|
Posted On |
2014-11-12 |