Incidental Mutation 'IGL00792:Lrrc49'
ID |
13594 |
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 # |
IGL00792
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60595121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 8
(S8P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000132366]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065603
AA Change: S8P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000070606 Gene: ENSMUSG00000047766 AA Change: S8P
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
AA Change: S8P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109668 Gene: ENSMUSG00000047766 AA Change: S8P
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: ENSMUST00000132366
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150060
AA Change: S8P
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118205 Gene: ENSMUSG00000047766 AA Change: S8P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181046
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,228,790 (GRCm39) |
I346V |
probably benign |
Het |
Actl7a |
A |
T |
4: 56,743,944 (GRCm39) |
Y157F |
possibly damaging |
Het |
Adcy9 |
A |
G |
16: 4,106,403 (GRCm39) |
F904L |
probably damaging |
Het |
Ap1m1 |
A |
G |
8: 73,009,599 (GRCm39) |
D369G |
possibly damaging |
Het |
Atp23 |
A |
T |
10: 126,736,969 (GRCm39) |
|
probably null |
Het |
Atp5pd |
A |
G |
11: 115,308,675 (GRCm39) |
|
probably null |
Het |
Btf3l4 |
G |
A |
4: 108,674,056 (GRCm39) |
S153L |
probably benign |
Het |
Carf |
G |
T |
1: 60,165,168 (GRCm39) |
V117L |
possibly damaging |
Het |
Cntnap1 |
C |
A |
11: 101,069,792 (GRCm39) |
N290K |
probably benign |
Het |
Dgkb |
G |
A |
12: 38,264,388 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
T |
A |
7: 130,699,337 (GRCm39) |
C989S |
possibly damaging |
Het |
Epb41l1 |
C |
T |
2: 156,366,939 (GRCm39) |
R591C |
probably damaging |
Het |
Fam219a |
A |
G |
4: 41,521,684 (GRCm39) |
V74A |
probably benign |
Het |
Frrs1 |
T |
A |
3: 116,678,944 (GRCm39) |
|
probably null |
Het |
Gm13547 |
A |
T |
2: 29,653,417 (GRCm39) |
D85V |
probably damaging |
Het |
Hipk1 |
G |
T |
3: 103,685,476 (GRCm39) |
S46R |
possibly damaging |
Het |
Ifih1 |
T |
A |
2: 62,476,214 (GRCm39) |
R21W |
probably damaging |
Het |
Ift43 |
A |
T |
12: 86,186,840 (GRCm39) |
Q87L |
probably null |
Het |
Itprid2 |
C |
T |
2: 79,487,807 (GRCm39) |
A630V |
probably benign |
Het |
Kcnn1 |
G |
A |
8: 71,307,360 (GRCm39) |
L178F |
probably benign |
Het |
Kel |
G |
T |
6: 41,678,946 (GRCm39) |
N172K |
probably damaging |
Het |
Krtap3-2 |
A |
T |
11: 99,447,372 (GRCm39) |
Y85* |
probably null |
Het |
Med23 |
T |
C |
10: 24,752,902 (GRCm39) |
I20T |
possibly damaging |
Het |
Pde4d |
A |
G |
13: 110,071,929 (GRCm39) |
K364E |
possibly damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,088,500 (GRCm39) |
K608E |
possibly damaging |
Het |
Robo4 |
C |
T |
9: 37,319,507 (GRCm39) |
L586F |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,692,416 (GRCm39) |
S191P |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,962,468 (GRCm39) |
H242Q |
probably damaging |
Het |
Slc30a9 |
T |
A |
5: 67,499,452 (GRCm39) |
N283K |
probably damaging |
Het |
Slc4a9 |
T |
C |
18: 36,672,649 (GRCm39) |
|
probably benign |
Het |
Stk36 |
G |
T |
1: 74,650,276 (GRCm39) |
L269F |
probably benign |
Het |
Thop1 |
T |
A |
10: 80,914,433 (GRCm39) |
L240* |
probably null |
Het |
Tmem52b |
T |
A |
6: 129,493,704 (GRCm39) |
S106T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,555,970 (GRCm39) |
D30345V |
probably damaging |
Het |
Vtcn1 |
T |
C |
3: 100,795,663 (GRCm39) |
V210A |
probably damaging |
Het |
Zfp568 |
A |
G |
7: 29,714,497 (GRCm39) |
R124G |
probably benign |
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 |
|
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 |
IGL03392:Lrrc49
|
APN |
9 |
60,573,563 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-12-06 |