Incidental Mutation 'R5370:Leng8'
ID |
429602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Leng8
|
Ensembl Gene |
ENSMUSG00000035545 |
Gene Name |
leukocyte receptor cluster (LRC) member 8 |
Synonyms |
|
MMRRC Submission |
042947-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R5370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4140038-4151176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4148433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 735
(D735G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037472]
[ENSMUST00000058358]
[ENSMUST00000117274]
[ENSMUST00000121270]
[ENSMUST00000128756]
[ENSMUST00000144248]
[ENSMUST00000154571]
|
AlphaFold |
Q8CBY3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037472
AA Change: D735G
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046465 Gene: ENSMUSG00000035545 AA Change: D735G
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: ENSMUST00000058358
|
SMART Domains |
Protein: ENSMUSP00000061079 Gene: ENSMUSG00000043432
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
8 |
34 |
1.72e-4 |
SMART |
Pfam:DUF504
|
77 |
128 |
1.9e-11 |
PFAM |
Pfam:AKAP7_NLS
|
305 |
484 |
2.5e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117274
|
SMART Domains |
Protein: ENSMUSP00000113223 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121270
AA Change: D735G
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112428 Gene: ENSMUSG00000035545 AA Change: D735G
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 |
noncoding transcript
Transcript: ENSMUST00000127723
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128756
|
SMART Domains |
Protein: ENSMUSP00000118832 Gene: ENSMUSG00000035545
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 |
probably benign
Transcript: ENSMUST00000144248
|
SMART Domains |
Protein: ENSMUSP00000120574 Gene: ENSMUSG00000035545
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: ENSMUST00000155881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146434
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154571
|
SMART Domains |
Protein: ENSMUSP00000123328 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
Clec4g |
C |
A |
8: 3,768,344 (GRCm39) |
R129L |
probably benign |
Het |
Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,243,470 (GRCm39) |
C167S |
probably damaging |
Het |
Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
Gzma |
T |
A |
13: 113,232,329 (GRCm39) |
M191L |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,734,339 (GRCm39) |
I382L |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
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 |
R5368:Leng8
|
UTSW |
7 |
4,142,987 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- GCAGACATCACTACGGAACTG -3'
(R):5'- ACATGATGCCAGGAGTGGTG -3'
Sequencing Primer
(F):5'- CTACGGAACTGGCATACCTC -3'
(R):5'- AACTGCAGGTGGCCGATG -3'
|
Posted On |
2016-09-06 |