Incidental Mutation 'IGL01289:Lrrc17'
ID |
72863 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc17
|
Ensembl Gene |
ENSMUSG00000039883 |
Gene Name |
leucine rich repeat containing 17 |
Synonyms |
4833425M04Rik, 37kDa, 6130400C22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01289
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21748557-21780902 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21765899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 127
(F127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035651]
[ENSMUST00000051358]
[ENSMUST00000115234]
|
AlphaFold |
Q9CXD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035651
AA Change: F127S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038569 Gene: ENSMUSG00000039883 AA Change: F127S
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
Blast:LRR
|
83 |
105 |
8e-6 |
BLAST |
LRR
|
106 |
129 |
9.96e-1 |
SMART |
LRR
|
130 |
153 |
1.07e0 |
SMART |
LRRCT
|
165 |
215 |
8.98e-4 |
SMART |
LRR
|
270 |
292 |
8.73e1 |
SMART |
LRR
|
293 |
316 |
3.52e-1 |
SMART |
LRR
|
317 |
340 |
7.55e-1 |
SMART |
LRRCT
|
352 |
403 |
8.95e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051358
|
SMART Domains |
Protein: ENSMUSP00000052716 Gene: ENSMUSG00000048520
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
LRR
|
354 |
378 |
3.67e2 |
SMART |
LRR
|
379 |
404 |
2.75e-3 |
SMART |
LRR
|
407 |
425 |
4.51e2 |
SMART |
LRR
|
426 |
451 |
2.63e0 |
SMART |
LRR
|
476 |
501 |
4.15e1 |
SMART |
LRR
|
502 |
526 |
1.82e1 |
SMART |
LRR
|
529 |
554 |
1.76e-1 |
SMART |
LRR_CC
|
555 |
580 |
4.61e-5 |
SMART |
LRR
|
604 |
629 |
8.81e-2 |
SMART |
LRR
|
630 |
655 |
2.37e1 |
SMART |
LRR
|
656 |
681 |
3.21e-4 |
SMART |
LRR
|
682 |
707 |
6.57e-1 |
SMART |
LRR
|
708 |
733 |
9.47e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115234
|
SMART Domains |
Protein: ENSMUSP00000110889 Gene: ENSMUSG00000048520
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
173 |
N/A |
INTRINSIC |
FBOX
|
243 |
283 |
3.73e-4 |
SMART |
LRR_CC
|
328 |
353 |
6.62e-6 |
SMART |
LRR
|
354 |
378 |
3.67e2 |
SMART |
LRR
|
379 |
404 |
2.75e-3 |
SMART |
LRR
|
407 |
432 |
6.88e-4 |
SMART |
Blast:LRR
|
433 |
458 |
7e-8 |
BLAST |
LRR
|
459 |
484 |
2.63e0 |
SMART |
LRR
|
509 |
534 |
4.15e1 |
SMART |
LRR
|
535 |
559 |
1.82e1 |
SMART |
LRR
|
562 |
587 |
1.76e-1 |
SMART |
LRR_CC
|
588 |
613 |
4.61e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137788
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
Other mutations in Lrrc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Lrrc17
|
APN |
5 |
21,780,269 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01549:Lrrc17
|
APN |
5 |
21,775,288 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02105:Lrrc17
|
APN |
5 |
21,775,255 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02371:Lrrc17
|
APN |
5 |
21,765,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02412:Lrrc17
|
APN |
5 |
21,765,877 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02587:Lrrc17
|
APN |
5 |
21,766,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R0255:Lrrc17
|
UTSW |
5 |
21,765,967 (GRCm39) |
missense |
probably benign |
0.09 |
R0504:Lrrc17
|
UTSW |
5 |
21,765,528 (GRCm39) |
missense |
probably benign |
0.05 |
R0883:Lrrc17
|
UTSW |
5 |
21,766,276 (GRCm39) |
missense |
probably benign |
0.06 |
R1875:Lrrc17
|
UTSW |
5 |
21,765,650 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2168:Lrrc17
|
UTSW |
5 |
21,780,046 (GRCm39) |
missense |
probably damaging |
0.97 |
R5057:Lrrc17
|
UTSW |
5 |
21,780,307 (GRCm39) |
missense |
probably benign |
0.25 |
R5326:Lrrc17
|
UTSW |
5 |
21,780,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R5542:Lrrc17
|
UTSW |
5 |
21,780,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R5574:Lrrc17
|
UTSW |
5 |
21,775,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5872:Lrrc17
|
UTSW |
5 |
21,780,264 (GRCm39) |
missense |
probably benign |
0.01 |
R7108:Lrrc17
|
UTSW |
5 |
21,780,337 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7715:Lrrc17
|
UTSW |
5 |
21,766,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7766:Lrrc17
|
UTSW |
5 |
21,766,042 (GRCm39) |
missense |
probably benign |
0.03 |
R8079:Lrrc17
|
UTSW |
5 |
21,766,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R8121:Lrrc17
|
UTSW |
5 |
21,775,329 (GRCm39) |
missense |
probably benign |
0.00 |
R9067:Lrrc17
|
UTSW |
5 |
21,766,033 (GRCm39) |
missense |
probably benign |
0.10 |
X0026:Lrrc17
|
UTSW |
5 |
21,766,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |