Incidental Mutation 'R4508:Lilra6'
| ID |
331066 |
| 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 |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 3915028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 455
(Y455*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
| AlphaFold |
A0A0B4J1F3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038176
AA Change: Y493*
|
| SMART Domains |
Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: Y493*
| 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 null
Transcript: ENSMUST00000090689
AA Change: Y455*
|
| SMART Domains |
Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: Y455*
| 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
|
| Meta Mutation Damage Score |
0.9706 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly 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 |
|
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 |
|
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'- GACTGAGCTCAACTCCTGTTC -3'
(R):5'- ATCCTGGACCCTGGAATGAC -3'
Sequencing Primer
(F):5'- GTGTCCACTCCTGCTTAGG -3'
(R):5'- TGGAATGACCCTCACCCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation