Incidental Mutation 'R5368:Leng8'
ID |
429477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Leng8
|
Ensembl Gene |
ENSMUSG00000035545 |
Gene Name |
leukocyte receptor cluster (LRC) member 8 |
Synonyms |
|
MMRRC Submission |
043204-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R5368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4140038-4151176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4142987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 88
(Y88C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032594]
[ENSMUST00000037472]
[ENSMUST00000079415]
[ENSMUST00000117274]
[ENSMUST00000119661]
[ENSMUST00000121270]
[ENSMUST00000144248]
[ENSMUST00000128756]
[ENSMUST00000132086]
[ENSMUST00000154571]
[ENSMUST00000129423]
|
AlphaFold |
Q8CBY3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032594
|
SMART Domains |
Protein: ENSMUSP00000032594 Gene: ENSMUSG00000030428
Domain | Start | End | E-Value | Type |
Pfam:Tweety
|
1 |
72 |
4.7e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037472
AA Change: Y88C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046465 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
567 |
762 |
8.2e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079415
|
SMART Domains |
Protein: ENSMUSP00000078384 Gene: ENSMUSG00000030428
Domain | Start | End | E-Value | Type |
Pfam:Tweety
|
26 |
428 |
3.2e-165 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117274
AA Change: Y88C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113223 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119661
|
SMART Domains |
Protein: ENSMUSP00000113937 Gene: ENSMUSG00000030428
Domain | Start | End | E-Value | Type |
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121270
AA Change: Y88C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112428 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
567 |
764 |
7.4e-67 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000144248
AA Change: Y88C
|
SMART Domains |
Protein: ENSMUSP00000120574 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
low complexity region
|
376 |
410 |
N/A |
INTRINSIC |
low complexity region
|
416 |
431 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
530 |
725 |
1e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127723
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128756
AA Change: Y88C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118832 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132086
AA Change: Y70C
|
SMART Domains |
Protein: ENSMUSP00000121129 Gene: ENSMUSG00000035545 AA Change: Y70C
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
51 |
N/A |
INTRINSIC |
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154571
AA Change: Y88C
|
SMART Domains |
Protein: ENSMUSP00000123328 Gene: ENSMUSG00000035545 AA Change: Y88C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146434
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129423
|
SMART Domains |
Protein: ENSMUSP00000120182 Gene: ENSMUSG00000030428
Domain | Start | End | E-Value | Type |
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
Meta Mutation Damage Score |
0.4214 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,925 (GRCm39) |
H97L |
possibly damaging |
Het |
Abca9 |
T |
A |
11: 110,036,372 (GRCm39) |
N579I |
probably damaging |
Het |
Acbd3 |
A |
T |
1: 180,549,660 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,199 (GRCm39) |
I1056N |
probably damaging |
Het |
Ceacam18 |
T |
C |
7: 43,291,458 (GRCm39) |
V300A |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,207,389 (GRCm39) |
R1843S |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,629 (GRCm39) |
V1229A |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,538,522 (GRCm39) |
S206L |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,918,628 (GRCm39) |
D1530E |
probably damaging |
Het |
Ecm2 |
A |
C |
13: 49,674,419 (GRCm39) |
T280P |
probably benign |
Het |
Emc2 |
G |
A |
15: 43,375,207 (GRCm39) |
|
probably null |
Het |
Epb42 |
C |
T |
2: 120,849,943 (GRCm39) |
V689I |
probably benign |
Het |
Fam114a1 |
T |
A |
5: 65,163,452 (GRCm39) |
M209K |
possibly damaging |
Het |
Fam117a |
C |
T |
11: 95,266,459 (GRCm39) |
S193F |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,377,913 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
A |
12: 70,910,874 (GRCm39) |
C19* |
probably null |
Het |
Fyb1 |
A |
G |
15: 6,610,159 (GRCm39) |
|
probably null |
Het |
Gata6 |
C |
A |
18: 11,063,059 (GRCm39) |
H442Q |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,135,921 (GRCm39) |
S160P |
probably benign |
Het |
Gm3952 |
A |
G |
8: 129,472,455 (GRCm39) |
S1626P |
possibly damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,742 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
T |
C |
17: 46,477,230 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
T |
16: 37,410,113 (GRCm39) |
T50S |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,364,459 (GRCm39) |
T22M |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,743,449 (GRCm39) |
E1182K |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,919,034 (GRCm39) |
E230G |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,711,895 (GRCm39) |
D54G |
possibly damaging |
Het |
Lypd2 |
G |
T |
15: 74,604,908 (GRCm39) |
A29E |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,936,434 (GRCm39) |
Y1364C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,935,054 (GRCm39) |
N163S |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,718,872 (GRCm39) |
C295Y |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,969,391 (GRCm39) |
L212Q |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,959,852 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
A |
2: 87,139,126 (GRCm39) |
|
probably null |
Het |
Or4c110 |
A |
G |
2: 88,832,435 (GRCm39) |
S66P |
probably damaging |
Het |
Peli1 |
A |
G |
11: 21,098,389 (GRCm39) |
T375A |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,856,803 (GRCm39) |
*611Q |
probably null |
Het |
Plch1 |
G |
T |
3: 63,609,394 (GRCm39) |
Q938K |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,043,796 (GRCm39) |
V1352A |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,070,115 (GRCm39) |
R147W |
probably damaging |
Het |
Prdm16 |
T |
G |
4: 154,429,848 (GRCm39) |
K373Q |
probably damaging |
Het |
Qki |
T |
G |
17: 10,457,964 (GRCm39) |
E135A |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,575,073 (GRCm39) |
K556E |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
Smg8 |
G |
A |
11: 86,971,086 (GRCm39) |
S895L |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,890,686 (GRCm39) |
I1944M |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
A |
T |
16: 45,481,252 (GRCm39) |
W645R |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,980,176 (GRCm39) |
M1111V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,726 (GRCm39) |
D17763E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,124,839 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,260,588 (GRCm39) |
H637R |
probably damaging |
Het |
Vps50 |
A |
C |
6: 3,567,739 (GRCm39) |
E545A |
possibly damaging |
Het |
Wdfy3 |
G |
T |
5: 102,020,724 (GRCm39) |
L2527M |
probably damaging |
Het |
Wfdc2 |
T |
C |
2: 164,405,354 (GRCm39) |
V85A |
possibly damaging |
Het |
|
Other mutations in Leng8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01599:Leng8
|
APN |
7 |
4,148,481 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02437:Leng8
|
APN |
7 |
4,145,092 (GRCm39) |
missense |
probably damaging |
0.99 |
Coolhand
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
R0104:Leng8
|
UTSW |
7 |
4,146,807 (GRCm39) |
missense |
probably damaging |
0.99 |
R0774:Leng8
|
UTSW |
7 |
4,145,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Leng8
|
UTSW |
7 |
4,148,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Leng8
|
UTSW |
7 |
4,148,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Leng8
|
UTSW |
7 |
4,146,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Leng8
|
UTSW |
7 |
4,147,289 (GRCm39) |
nonsense |
probably null |
|
R3433:Leng8
|
UTSW |
7 |
4,145,131 (GRCm39) |
missense |
probably benign |
0.22 |
R4335:Leng8
|
UTSW |
7 |
4,150,037 (GRCm39) |
missense |
probably damaging |
0.99 |
R4607:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4886:Leng8
|
UTSW |
7 |
4,147,930 (GRCm39) |
splice site |
probably null |
|
R5307:Leng8
|
UTSW |
7 |
4,148,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5339:Leng8
|
UTSW |
7 |
4,148,285 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5370:Leng8
|
UTSW |
7 |
4,148,433 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5615:Leng8
|
UTSW |
7 |
4,147,957 (GRCm39) |
nonsense |
probably null |
|
R5645:Leng8
|
UTSW |
7 |
4,148,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Leng8
|
UTSW |
7 |
4,145,119 (GRCm39) |
missense |
probably benign |
0.04 |
R6041:Leng8
|
UTSW |
7 |
4,148,568 (GRCm39) |
missense |
probably benign |
0.01 |
R6054:Leng8
|
UTSW |
7 |
4,148,522 (GRCm39) |
splice site |
probably null |
|
R6481:Leng8
|
UTSW |
7 |
4,148,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6826:Leng8
|
UTSW |
7 |
4,148,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Leng8
|
UTSW |
7 |
4,146,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7313:Leng8
|
UTSW |
7 |
4,142,525 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7357:Leng8
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
R7428:Leng8
|
UTSW |
7 |
4,146,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Leng8
|
UTSW |
7 |
4,146,504 (GRCm39) |
nonsense |
probably null |
|
R8027:Leng8
|
UTSW |
7 |
4,145,855 (GRCm39) |
frame shift |
probably null |
|
R8198:Leng8
|
UTSW |
7 |
4,147,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9048:Leng8
|
UTSW |
7 |
4,146,931 (GRCm39) |
unclassified |
probably benign |
|
R9103:Leng8
|
UTSW |
7 |
4,146,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R9234:Leng8
|
UTSW |
7 |
4,145,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTACTGTACAGAGTCTGCACC -3'
(R):5'- AGGCAGTGGAAATGTCAGCATC -3'
Sequencing Primer
(F):5'- GTACAGAGTCTGCACCCTTCTG -3'
(R):5'- GGATATGCCAGATCTTATGAGACC -3'
|
Posted On |
2016-09-06 |