Incidental Mutation 'IGL01098:Lrrc17'
| ID |
51100 |
| 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 # |
IGL01098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21748557-21780902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21780269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 414
(F414L)
|
| 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: F414L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: F414L
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,453 (GRCm39) |
D75G |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,999,688 (GRCm39) |
R765S |
possibly damaging |
Het |
| Btbd16 |
T |
C |
7: 130,424,975 (GRCm39) |
I452T |
probably damaging |
Het |
| Cdc42ep4 |
T |
G |
11: 113,620,328 (GRCm39) |
D21A |
probably damaging |
Het |
| Cdx2 |
T |
A |
5: 147,243,792 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 127,952,845 (GRCm39) |
T98M |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,688,450 (GRCm39) |
Q324L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,896,059 (GRCm39) |
V686A |
probably damaging |
Het |
| Gpr6 |
G |
A |
10: 40,946,739 (GRCm39) |
T281I |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,369,204 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 26,907,108 (GRCm39) |
I2351N |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,124,711 (GRCm39) |
F343L |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,657 (GRCm39) |
|
probably benign |
Het |
| Man2b2 |
A |
T |
5: 36,972,900 (GRCm39) |
L538Q |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,770,928 (GRCm39) |
S910P |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,191 (GRCm39) |
P80S |
probably damaging |
Het |
| Mindy4 |
G |
T |
6: 55,261,727 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,583,619 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,924,081 (GRCm39) |
D187G |
probably damaging |
Het |
| Olfml2a |
A |
G |
2: 38,837,226 (GRCm39) |
|
probably null |
Het |
| Pink1 |
A |
T |
4: 138,047,408 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
T |
C |
1: 133,209,903 (GRCm39) |
F575L |
possibly damaging |
Het |
| Rpe |
C |
A |
1: 66,745,674 (GRCm39) |
D71E |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,599,988 (GRCm39) |
A142T |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,109,385 (GRCm39) |
R70K |
probably damaging |
Het |
| Taf1c |
G |
T |
8: 120,329,580 (GRCm39) |
Q159K |
probably damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,851,693 (GRCm39) |
F311S |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmed8 |
G |
T |
12: 87,223,445 (GRCm39) |
A98E |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,870,041 (GRCm39) |
I76T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,358 (GRCm39) |
E37G |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,496,296 (GRCm39) |
V474E |
probably damaging |
Het |
| Vps52 |
C |
T |
17: 34,181,704 (GRCm39) |
T510I |
possibly damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zer1 |
C |
T |
2: 29,998,232 (GRCm39) |
|
probably null |
Het |
| Zfp296 |
A |
T |
7: 19,311,845 (GRCm39) |
K117N |
possibly damaging |
Het |
|
| Other mutations in Lrrc17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation