Incidental Mutation 'IGL01549:Lrrc17'
| ID |
90543 |
| 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 # |
IGL01549
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21748557-21780902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21775288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 283
(R283S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035651]
[ENSMUST00000051358]
[ENSMUST00000115234]
|
| AlphaFold |
Q9CXD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035651
AA Change: R283S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: R283S
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
| Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
| Clec7a |
A |
T |
6: 129,449,640 (GRCm39) |
Y3* |
probably null |
Het |
| Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
| Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
| Muc1 |
C |
T |
3: 89,139,117 (GRCm39) |
P533S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
| Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,329 (GRCm39) |
I276F |
probably benign |
Het |
| Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
| Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
| Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
| Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
| Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
| Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,303 (GRCm39) |
T489A |
probably benign |
Het |
| Wdr38 |
T |
G |
2: 38,890,730 (GRCm39) |
S201R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
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 |
|
IGL01289:Lrrc17
|
APN |
5 |
21,765,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation