Incidental Mutation 'IGL02371:Lrrc17'
| ID |
290943 |
| 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 # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21748557-21780902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21765994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 159
(Y159H)
|
| 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: Y159H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: Y159H
| 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 |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation