Incidental Mutation 'R4074:Lilra6'
| ID |
316465 |
| 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 |
040855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3911279-3918502 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3917889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 85
(F85Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038176]
[ENSMUST00000090689]
[ENSMUST00000206077]
|
| AlphaFold |
A0A0B4J1F3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038176
AA Change: F85Y
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: F85Y
| 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: F85Y
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427
AA Change: F85Y
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,485,401 (GRCm39) |
E422G |
probably damaging |
Het |
| Ace3 |
A |
G |
11: 105,888,040 (GRCm39) |
Y287C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,727 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
| Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Chgb |
C |
A |
2: 132,635,847 (GRCm39) |
D596E |
possibly damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,947,849 (GRCm39) |
F53Y |
possibly damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Crb2 |
G |
T |
2: 37,676,855 (GRCm39) |
C251F |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
| Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
| D930020B18Rik |
A |
G |
10: 121,492,123 (GRCm39) |
|
probably benign |
Het |
| Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,267,542 (GRCm39) |
F4995L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ero1a |
A |
T |
14: 45,529,893 (GRCm39) |
|
probably null |
Het |
| Etl4 |
T |
C |
2: 20,814,030 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,139 (GRCm39) |
D289G |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,844,365 (GRCm39) |
W574R |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,988 (GRCm39) |
N332D |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,813,942 (GRCm39) |
E215D |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,147 (GRCm39) |
S15P |
possibly damaging |
Het |
| Igkv1-133 |
T |
G |
6: 67,702,505 (GRCm39) |
Y74* |
probably null |
Het |
| Il17f |
G |
A |
1: 20,847,987 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,274,742 (GRCm39) |
|
probably null |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,460,678 (GRCm39) |
I277T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,119,808 (GRCm39) |
F984S |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,382,572 (GRCm39) |
R46W |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,168,975 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,491,865 (GRCm39) |
N69S |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
| Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
| Psg23 |
A |
T |
7: 18,341,043 (GRCm39) |
S404T |
possibly damaging |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,311,629 (GRCm39) |
Y619H |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,270,520 (GRCm39) |
V565A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,443,606 (GRCm39) |
I58V |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,890,845 (GRCm39) |
N396S |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,199,756 (GRCm39) |
S147T |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,594,290 (GRCm39) |
D822G |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,304,566 (GRCm39) |
I622F |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,140,461 (GRCm39) |
L100P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGTTCCCACAGTGAG -3'
(R):5'- GTCCTGAGTCCTAGTTGCTC -3'
Sequencing Primer
(F):5'- CACAGTGAGGGTGGGCATTC -3'
(R):5'- AGTCCTAGTTGCTCTGTTACTTGCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation