Incidental Mutation 'IGL01970:Leng9'
ID |
182522 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Leng9
|
Ensembl Gene |
ENSMUSG00000043432 |
Gene Name |
leukocyte receptor cluster (LRC) member 9 |
Synonyms |
9530024C23Rik, F630035L11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
IGL01970
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4151182-4152871 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4151326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 450
(Y450C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061079
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037472]
[ENSMUST00000058358]
[ENSMUST00000076831]
[ENSMUST00000121270]
[ENSMUST00000140410]
[ENSMUST00000143825]
|
AlphaFold |
Q8BTN6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037472
|
SMART Domains |
Protein: ENSMUSP00000046465 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 |
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 damaging
Transcript: ENSMUST00000058358
AA Change: Y450C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061079 Gene: ENSMUSG00000043432 AA Change: Y450C
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: ENSMUST00000076831
|
SMART Domains |
Protein: ENSMUSP00000092508 Gene: ENSMUSG00000063838
Domain | Start | End | E-Value | Type |
PBD
|
23 |
57 |
5.86e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121270
|
SMART Domains |
Protein: ENSMUSP00000112428 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 |
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: ENSMUST00000140410
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143825
|
SMART Domains |
Protein: ENSMUSP00000117257 Gene: ENSMUSG00000063838
Domain | Start | End | E-Value | Type |
PBD
|
23 |
57 |
5.86e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146434
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
Selenbp1 |
A |
G |
3: 94,844,313 (GRCm39) |
S57G |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
probably benign |
Het |
|
Other mutations in Leng9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01903:Leng9
|
APN |
7 |
4,151,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Leng9
|
APN |
7 |
4,151,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03013:Leng9
|
APN |
7 |
4,151,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R1616:Leng9
|
UTSW |
7 |
4,151,902 (GRCm39) |
missense |
probably benign |
0.00 |
R2352:Leng9
|
UTSW |
7 |
4,152,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R2419:Leng9
|
UTSW |
7 |
4,151,626 (GRCm39) |
missense |
probably benign |
0.32 |
R4156:Leng9
|
UTSW |
7 |
4,152,433 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4832:Leng9
|
UTSW |
7 |
4,152,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R4841:Leng9
|
UTSW |
7 |
4,152,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Leng9
|
UTSW |
7 |
4,152,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7468:Leng9
|
UTSW |
7 |
4,151,800 (GRCm39) |
missense |
probably benign |
|
R7627:Leng9
|
UTSW |
7 |
4,151,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7679:Leng9
|
UTSW |
7 |
4,152,659 (GRCm39) |
missense |
probably benign |
0.11 |
R8885:Leng9
|
UTSW |
7 |
4,151,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8951:Leng9
|
UTSW |
7 |
4,152,782 (GRCm39) |
unclassified |
probably benign |
|
R9062:Leng9
|
UTSW |
7 |
4,151,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R9140:Leng9
|
UTSW |
7 |
4,152,657 (GRCm39) |
missense |
probably benign |
|
R9275:Leng9
|
UTSW |
7 |
4,151,447 (GRCm39) |
missense |
probably benign |
0.02 |
R9418:Leng9
|
UTSW |
7 |
4,151,354 (GRCm39) |
missense |
probably benign |
0.01 |
R9582:Leng9
|
UTSW |
7 |
4,152,263 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Leng9
|
UTSW |
7 |
4,152,382 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Posted On |
2014-05-07 |