Incidental Mutation 'IGL02719:Lilra6'
ID |
304882 |
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 # |
IGL02719
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3915991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 289
(H289Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
AlphaFold |
A0A0B4J1F3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038176
AA Change: H289Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042636 Gene: ENSMUSG00000030427 AA Change: H289Q
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: H48Q
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206851
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
Ddx47 |
A |
G |
6: 134,994,114 (GRCm39) |
N131D |
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
probably damaging |
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 |
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 |
2015-04-16 |