Incidental Mutation 'R4284:Lilra6'
| ID |
321994 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3911803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 285
(H285R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
| AlphaFold |
A0A0B4J1F3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038176
AA Change: H625R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: H625R
| 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
AA Change: H587R
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: H587R
| 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: H285R
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206851
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Capg |
T |
C |
6: 72,538,082 (GRCm39) |
Y323H |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,139,272 (GRCm39) |
T3314A |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,560 (GRCm39) |
T552S |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,521,293 (GRCm39) |
|
probably null |
Het |
| Ctu2 |
G |
A |
8: 123,204,978 (GRCm39) |
V88I |
probably benign |
Het |
| Elfn1 |
A |
T |
5: 139,958,069 (GRCm39) |
K358* |
probably null |
Het |
| Enpp6 |
T |
C |
8: 47,522,050 (GRCm39) |
F328S |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,231 (GRCm39) |
L163P |
probably damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,918,372 (GRCm39) |
R354H |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
C |
T |
1: 131,203,515 (GRCm39) |
|
probably null |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Jmjd6 |
T |
C |
11: 116,733,534 (GRCm39) |
R48G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,310,438 (GRCm39) |
R2712C |
possibly damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Relch |
A |
G |
1: 105,649,012 (GRCm39) |
D717G |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,883,345 (GRCm39) |
T318A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,781,055 (GRCm39) |
K570E |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,851 (GRCm39) |
|
probably null |
Het |
| Sult5a1 |
A |
G |
8: 123,875,969 (GRCm39) |
S116P |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,808 (GRCm39) |
D455E |
probably damaging |
Het |
| Tm9sf1 |
T |
C |
14: 55,878,780 (GRCm39) |
Y204C |
probably damaging |
Het |
| Tmem161a |
A |
G |
8: 70,630,076 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,623,211 (GRCm39) |
K13663* |
probably null |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
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 |
|
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 |
|
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'- TGGGTCATCAGATATATTTCCCAGAG -3'
(R):5'- TCTCAGGATCAGCTGAGAACATC -3'
Sequencing Primer
(F):5'- TTCCCAGAGTGTAGAACATAGAAAC -3'
(R):5'- TGCTAGAACATGTCCAAAACCTAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation