Incidental Mutation 'R9406:Lilra6'
ID |
711527 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R9406 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3917853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 97
(R97Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
AlphaFold |
A0A0B4J1F3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038176
AA Change: R97Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042636 Gene: ENSMUSG00000030427 AA Change: R97Q
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: R97Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000088188 Gene: ENSMUSG00000030427 AA Change: R97Q
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 |
probably benign
Transcript: ENSMUST00000206077
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
A |
G |
17: 35,879,487 (GRCm39) |
Y275C |
possibly damaging |
Het |
4932414N04Rik |
A |
G |
2: 68,498,019 (GRCm39) |
K150R |
unknown |
Het |
Aatf |
ACACACACACACACACACACACACACACACACACACACACACACACAC |
ACACACACACACACACACACACACACACACACACACACACACACACACAC |
11: 84,361,866 (GRCm39) |
|
probably null |
Het |
Ank3 |
C |
A |
10: 69,645,011 (GRCm39) |
T92K |
unknown |
Het |
Armh4 |
C |
T |
14: 50,010,945 (GRCm39) |
G254E |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,937,772 (GRCm39) |
S294G |
unknown |
Het |
Cerk |
A |
G |
15: 86,028,787 (GRCm39) |
I423T |
possibly damaging |
Het |
Cfap74 |
A |
T |
4: 155,510,626 (GRCm39) |
K404* |
probably null |
Het |
Cftr |
T |
C |
6: 18,299,866 (GRCm39) |
V1213A |
probably benign |
Het |
Chst11 |
A |
G |
10: 83,026,881 (GRCm39) |
T103A |
possibly damaging |
Het |
Col22a1 |
A |
G |
15: 71,845,541 (GRCm39) |
I407T |
probably damaging |
Het |
Cpn2 |
A |
G |
16: 30,078,360 (GRCm39) |
V447A |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,378,839 (GRCm39) |
E805G |
probably benign |
Het |
Cstb |
A |
G |
10: 78,263,173 (GRCm39) |
H66R |
probably benign |
Het |
Cyp2g1 |
T |
C |
7: 26,518,910 (GRCm39) |
|
probably null |
Het |
Fkbp1b |
G |
T |
12: 4,883,732 (GRCm39) |
H88N |
probably benign |
Het |
Gm4884 |
A |
T |
7: 40,692,565 (GRCm39) |
D178V |
probably damaging |
Het |
Grik5 |
T |
C |
7: 24,757,969 (GRCm39) |
T371A |
probably benign |
Het |
Hydin |
G |
A |
8: 111,314,412 (GRCm39) |
G4299S |
probably null |
Het |
Ibtk |
A |
T |
9: 85,603,393 (GRCm39) |
Y537* |
probably null |
Het |
Ighv8-9 |
A |
G |
12: 115,432,257 (GRCm39) |
L18P |
probably damaging |
Het |
Lbp |
G |
T |
2: 158,159,477 (GRCm39) |
K203N |
probably benign |
Het |
Man1c1 |
A |
G |
4: 134,303,318 (GRCm39) |
I392T |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,059,676 (GRCm39) |
H727L |
probably damaging |
Het |
Med7 |
T |
A |
11: 46,331,865 (GRCm39) |
F153L |
probably benign |
Het |
Neurl1b |
G |
C |
17: 26,657,820 (GRCm39) |
V253L |
probably benign |
Het |
Noc2l |
T |
C |
4: 156,320,511 (GRCm39) |
S4P |
probably benign |
Het |
Obscn |
A |
C |
11: 58,947,805 (GRCm39) |
F4408C |
|
Het |
Or1j17 |
A |
G |
2: 36,578,296 (GRCm39) |
Y94C |
possibly damaging |
Het |
Or4f62 |
A |
G |
2: 111,986,643 (GRCm39) |
I116V |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,506,842 (GRCm39) |
Q498R |
probably damaging |
Het |
Oxsm |
A |
C |
14: 16,242,531 (GRCm38) |
D79E |
probably benign |
Het |
Pask |
G |
A |
1: 93,251,987 (GRCm39) |
T464I |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,126,922 (GRCm39) |
N468S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,728,722 (GRCm39) |
V565E |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,771,097 (GRCm39) |
I67V |
probably benign |
Het |
Pde4d |
A |
G |
13: 109,877,064 (GRCm39) |
D139G |
probably damaging |
Het |
Pdzd8 |
C |
T |
19: 59,333,245 (GRCm39) |
E259K |
|
Het |
Phactr3 |
T |
C |
2: 177,925,856 (GRCm39) |
L377P |
probably damaging |
Het |
Ppargc1b |
G |
A |
18: 61,444,051 (GRCm39) |
P387S |
possibly damaging |
Het |
Prmt7 |
T |
G |
8: 106,970,435 (GRCm39) |
V426G |
probably damaging |
Het |
Rab39 |
G |
C |
9: 53,597,915 (GRCm39) |
P117A |
probably damaging |
Het |
Rab40b |
G |
A |
11: 121,254,352 (GRCm39) |
R62* |
probably null |
Het |
Rpf1 |
T |
G |
3: 146,213,937 (GRCm39) |
H220P |
probably damaging |
Het |
Rps6kl1 |
A |
G |
12: 85,186,280 (GRCm39) |
I276T |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
Sestd1 |
G |
A |
2: 77,075,421 (GRCm39) |
|
probably benign |
Het |
Slc38a6 |
T |
A |
12: 73,376,767 (GRCm39) |
Y140* |
probably null |
Het |
Smpd1 |
C |
A |
7: 105,203,750 (GRCm39) |
H4Q |
possibly damaging |
Het |
Sox8 |
A |
T |
17: 25,786,634 (GRCm39) |
S356R |
probably damaging |
Het |
Tapbpl |
A |
G |
6: 125,205,319 (GRCm39) |
L209P |
probably damaging |
Het |
Txndc11 |
A |
G |
16: 10,893,498 (GRCm39) |
L744P |
probably benign |
Het |
Ush2a |
C |
T |
1: 187,995,646 (GRCm39) |
P139L |
probably benign |
Het |
Vmn1r54 |
A |
T |
6: 90,246,092 (GRCm39) |
N2I |
probably damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,824,223 (GRCm39) |
Q493* |
probably null |
Het |
Vps16 |
T |
C |
2: 130,283,425 (GRCm39) |
|
probably null |
Het |
Zfp40 |
A |
T |
17: 23,396,129 (GRCm39) |
S153T |
possibly damaging |
Het |
Zfp523 |
G |
A |
17: 28,416,840 (GRCm39) |
A109T |
probably benign |
Het |
Zfp78 |
A |
T |
7: 6,382,182 (GRCm39) |
N411Y |
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 |
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 |
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'- GAGTCAGTTAAATATCCCCAAGCC -3'
(R):5'- TCCTCAGAGTACAGCCAGAC -3'
Sequencing Primer
(F):5'- AAATATCCCCAAGCCTCATTATTCTC -3'
(R):5'- TCAGAGTACAGCCAGACTCTGTG -3'
|
Posted On |
2022-05-16 |