Incidental Mutation 'R6480:Lilra6'
| ID |
517031 |
| 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 |
044612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3915932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 309
(T309I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
| AlphaFold |
A0A0B4J1F3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038176
AA Change: T309I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: T309I
| 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 benign
Transcript: ENSMUST00000090689
|
| SMART Domains |
Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
| 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 |
possibly damaging
Transcript: ENSMUST00000206077
AA Change: T68I
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206851
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8b |
T |
A |
6: 108,792,010 (GRCm39) |
N90K |
possibly damaging |
Het |
| Art3 |
T |
C |
5: 92,540,676 (GRCm39) |
F140L |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,587,049 (GRCm39) |
M967K |
probably damaging |
Het |
| Ccne1 |
G |
A |
7: 37,806,279 (GRCm39) |
|
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,373,464 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
A |
7: 25,219,414 (GRCm39) |
E282V |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,161,373 (GRCm39) |
C86* |
probably null |
Het |
| Cul2 |
A |
C |
18: 3,417,561 (GRCm39) |
K115T |
possibly damaging |
Het |
| Dhx29 |
A |
T |
13: 113,090,322 (GRCm39) |
K800* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,976,758 (GRCm39) |
F1741S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,594,412 (GRCm39) |
T3455A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd4 |
A |
T |
7: 140,874,706 (GRCm39) |
I366F |
possibly damaging |
Het |
| Fam169b |
T |
A |
7: 68,003,466 (GRCm39) |
Y273* |
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,177,338 (GRCm39) |
Y1833F |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,899 (GRCm39) |
I121V |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,924,338 (GRCm39) |
T217A |
possibly damaging |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,810 (GRCm39) |
S32P |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,747,771 (GRCm39) |
F1062L |
probably benign |
Het |
| Lct |
G |
A |
1: 128,222,057 (GRCm39) |
T1494I |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,011,236 (GRCm39) |
T321A |
possibly damaging |
Het |
| Mmp23 |
T |
A |
4: 155,736,798 (GRCm39) |
N104I |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,171,238 (GRCm39) |
Y131C |
|
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,064,267 (GRCm39) |
S348P |
probably damaging |
Het |
| Nepro |
T |
C |
16: 44,547,438 (GRCm39) |
S52P |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,507,356 (GRCm39) |
E874G |
possibly damaging |
Het |
| Nsmce1 |
A |
G |
7: 125,090,590 (GRCm39) |
V9A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,007 (GRCm39) |
F62L |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,000 (GRCm39) |
F27L |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,079,838 (GRCm39) |
T277S |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,308,590 (GRCm39) |
I10F |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,357,104 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
T |
C |
13: 21,607,646 (GRCm39) |
I183V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,676,195 (GRCm39) |
V113A |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,773,474 (GRCm39) |
L259P |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,365,019 (GRCm39) |
Q1124* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,965,757 (GRCm39) |
S492P |
possibly damaging |
Het |
| Rcor2 |
T |
G |
19: 7,248,411 (GRCm39) |
M142R |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,950,101 (GRCm39) |
E115G |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,818 (GRCm39) |
Y475C |
probably damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,297 (GRCm39) |
I611N |
possibly damaging |
Het |
| Slc25a24 |
G |
T |
3: 109,043,617 (GRCm39) |
M91I |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,922,786 (GRCm39) |
S888G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,014,714 (GRCm39) |
|
probably null |
Het |
| Stk35 |
C |
A |
2: 129,652,607 (GRCm39) |
D369E |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,637,986 (GRCm39) |
S889P |
probably damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,798,050 (GRCm39) |
N697S |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,947,852 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,543,160 (GRCm39) |
Y25N |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,949,598 (GRCm39) |
C563R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,512 (GRCm39) |
S833G |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,294,976 (GRCm39) |
H550L |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,591,048 (GRCm39) |
|
probably null |
Het |
| Wbp1l |
T |
A |
19: 46,642,758 (GRCm39) |
L253Q |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,556,078 (GRCm39) |
S161R |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,032,782 (GRCm39) |
T256A |
probably damaging |
Het |
| Zpr1 |
A |
G |
9: 46,186,009 (GRCm39) |
D160G |
probably benign |
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 |
|
R2411:Lilra6
|
UTSW |
7 |
3,914,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AGAGCCTGGGTTCATAGTGTTC -3'
(R):5'- TCTGTGATCGCCTCCAAGAG -3'
Sequencing Primer
(F):5'- TGTTCATAGATTCCTAGGAGAGAAG -3'
(R):5'- TGATCGCCTCCAAGAGAGCAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation