Incidental Mutation 'IGL03392:Lrrc49'
ID |
421124 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc49
|
Ensembl Gene |
ENSMUSG00000047766 |
Gene Name |
leucine rich repeat containing 49 |
Synonyms |
D430025H09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
IGL03392
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 60573563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065603
|
SMART Domains |
Protein: ENSMUSP00000070606 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
199 |
221 |
2.84e1 |
SMART |
LRR
|
243 |
264 |
1.49e1 |
SMART |
LRR
|
265 |
286 |
1.37e2 |
SMART |
LRR
|
287 |
308 |
1.62e1 |
SMART |
LRR
|
309 |
332 |
6.77e0 |
SMART |
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114032
|
SMART Domains |
Protein: ENSMUSP00000109666 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
127 |
149 |
2.84e1 |
SMART |
LRR
|
171 |
192 |
1.49e1 |
SMART |
LRR
|
193 |
214 |
1.37e2 |
SMART |
LRR
|
215 |
236 |
1.62e1 |
SMART |
LRR
|
237 |
260 |
6.77e0 |
SMART |
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114034
|
SMART Domains |
Protein: ENSMUSP00000109668 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150060
|
SMART Domains |
Protein: ENSMUSP00000118205 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166168
|
SMART Domains |
Protein: ENSMUSP00000128842 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
193 |
215 |
2.84e1 |
SMART |
LRR
|
237 |
258 |
1.49e1 |
SMART |
LRR
|
259 |
280 |
1.37e2 |
SMART |
LRR
|
281 |
302 |
1.62e1 |
SMART |
LRR
|
303 |
326 |
6.77e0 |
SMART |
low complexity region
|
372 |
388 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
Col13a1 |
A |
T |
10: 61,721,490 (GRCm39) |
L305I |
possibly damaging |
Het |
Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
Cry1 |
A |
G |
10: 84,992,993 (GRCm39) |
V75A |
possibly damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gbp8 |
A |
G |
5: 105,164,410 (GRCm39) |
|
probably null |
Het |
Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
Lgi4 |
G |
A |
7: 30,762,605 (GRCm39) |
|
probably null |
Het |
Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
Spon1 |
A |
G |
7: 113,633,522 (GRCm39) |
E655G |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
probably damaging |
Het |
|
Other mutations in Lrrc49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Lrrc49
|
APN |
9 |
60,508,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00468:Lrrc49
|
APN |
9 |
60,595,151 (GRCm39) |
unclassified |
probably benign |
|
IGL00792:Lrrc49
|
APN |
9 |
60,595,121 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02252:Lrrc49
|
APN |
9 |
60,595,142 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
IGL02830:Lrrc49
|
APN |
9 |
60,592,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Lrrc49
|
APN |
9 |
60,592,316 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03223:Lrrc49
|
APN |
9 |
60,595,128 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03244:Lrrc49
|
APN |
9 |
60,495,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02837:Lrrc49
|
UTSW |
9 |
60,517,605 (GRCm39) |
missense |
probably benign |
0.00 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0335:Lrrc49
|
UTSW |
9 |
60,584,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R0399:Lrrc49
|
UTSW |
9 |
60,517,529 (GRCm39) |
splice site |
probably benign |
|
R0607:Lrrc49
|
UTSW |
9 |
60,573,640 (GRCm39) |
missense |
probably benign |
0.35 |
R1396:Lrrc49
|
UTSW |
9 |
60,587,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R1731:Lrrc49
|
UTSW |
9 |
60,528,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Lrrc49
|
UTSW |
9 |
60,505,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Lrrc49
|
UTSW |
9 |
60,510,059 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1876:Lrrc49
|
UTSW |
9 |
60,495,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1925:Lrrc49
|
UTSW |
9 |
60,556,773 (GRCm39) |
missense |
probably benign |
0.07 |
R2172:Lrrc49
|
UTSW |
9 |
60,509,965 (GRCm39) |
missense |
probably benign |
0.25 |
R2233:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2235:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2927:Lrrc49
|
UTSW |
9 |
60,501,029 (GRCm39) |
nonsense |
probably null |
|
R3955:Lrrc49
|
UTSW |
9 |
60,578,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Lrrc49
|
UTSW |
9 |
60,573,609 (GRCm39) |
missense |
probably benign |
0.33 |
R4772:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5283:Lrrc49
|
UTSW |
9 |
60,594,461 (GRCm39) |
missense |
probably benign |
0.06 |
R5801:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Lrrc49
|
UTSW |
9 |
60,522,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6488:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Lrrc49
|
UTSW |
9 |
60,505,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6540:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6550:Lrrc49
|
UTSW |
9 |
60,584,430 (GRCm39) |
missense |
probably benign |
0.13 |
R6603:Lrrc49
|
UTSW |
9 |
60,501,052 (GRCm39) |
splice site |
probably null |
|
R6878:Lrrc49
|
UTSW |
9 |
60,587,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Lrrc49
|
UTSW |
9 |
60,522,439 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:Lrrc49
|
UTSW |
9 |
60,584,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7541:Lrrc49
|
UTSW |
9 |
60,517,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Lrrc49
|
UTSW |
9 |
60,510,005 (GRCm39) |
missense |
probably null |
1.00 |
R7739:Lrrc49
|
UTSW |
9 |
60,500,975 (GRCm39) |
missense |
probably benign |
|
R8097:Lrrc49
|
UTSW |
9 |
60,522,331 (GRCm39) |
missense |
probably benign |
|
R8220:Lrrc49
|
UTSW |
9 |
60,517,613 (GRCm39) |
missense |
probably benign |
|
R8442:Lrrc49
|
UTSW |
9 |
60,500,908 (GRCm39) |
missense |
probably benign |
0.01 |
R8458:Lrrc49
|
UTSW |
9 |
60,505,456 (GRCm39) |
missense |
probably benign |
0.00 |
R8692:Lrrc49
|
UTSW |
9 |
60,594,445 (GRCm39) |
missense |
probably damaging |
0.97 |
R9036:Lrrc49
|
UTSW |
9 |
60,495,150 (GRCm39) |
missense |
probably benign |
0.17 |
R9126:Lrrc49
|
UTSW |
9 |
60,578,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Lrrc49
|
UTSW |
9 |
60,510,031 (GRCm39) |
missense |
probably benign |
0.04 |
R9456:Lrrc49
|
UTSW |
9 |
60,594,699 (GRCm39) |
missense |
probably benign |
0.01 |
R9661:Lrrc49
|
UTSW |
9 |
60,573,582 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrc49
|
UTSW |
9 |
60,584,504 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrrc49
|
UTSW |
9 |
60,505,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2016-08-02 |