Incidental Mutation 'IGL00569:Lilra6'
| ID |
5339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lilra6
|
| Ensembl Gene |
ENSMUSG00000030427 |
| Gene Name |
leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 |
| Synonyms |
7M1, Pira3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3917588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 136
(S136P)
|
| 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: S136P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: S136P
| 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: S136P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: S136P
| 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 benign
Transcript: ENSMUST00000206077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206851
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
| Adrm1b |
T |
C |
3: 92,335,707 (GRCm39) |
T332A |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,255 (GRCm39) |
R107H |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
| Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
| Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,330,092 (GRCm39) |
T646A |
possibly damaging |
Het |
| Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
| Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
| Rnls |
T |
A |
19: 33,145,888 (GRCm39) |
E195V |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
| Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,213,329 (GRCm39) |
R528C |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation