Incidental Mutation 'IGL00850:Lrrc45'
ID |
11828 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc45
|
Ensembl Gene |
ENSMUSG00000025145 |
Gene Name |
leucine rich repeat containing 45 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
IGL00850
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 120611436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018156]
[ENSMUST00000026139]
[ENSMUST00000026144]
[ENSMUST00000106148]
[ENSMUST00000145781]
[ENSMUST00000142229]
|
AlphaFold |
Q8CIM1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018156
|
SMART Domains |
Protein: ENSMUSP00000018156 Gene: ENSMUSG00000018012
Domain | Start | End | E-Value | Type |
RHO
|
6 |
179 |
8.8e-139 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026139
|
SMART Domains |
Protein: ENSMUSP00000026139 Gene: ENSMUSG00000025145
Domain | Start | End | E-Value | Type |
LRR
|
57 |
84 |
9.11e0 |
SMART |
LRR
|
85 |
112 |
1.01e-1 |
SMART |
Blast:LRR
|
113 |
142 |
4e-11 |
BLAST |
LRR
|
143 |
170 |
4.47e-3 |
SMART |
LRR
|
171 |
198 |
2.2e-2 |
SMART |
LRR
|
199 |
226 |
1.66e2 |
SMART |
coiled coil region
|
360 |
645 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026144
|
SMART Domains |
Protein: ENSMUSP00000026144 Gene: ENSMUSG00000039450
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
8 |
195 |
8.9e-51 |
PFAM |
Pfam:KR
|
9 |
175 |
7.1e-9 |
PFAM |
Pfam:Epimerase
|
10 |
227 |
2.3e-7 |
PFAM |
Pfam:adh_short_C2
|
14 |
242 |
6.3e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106148
|
SMART Domains |
Protein: ENSMUSP00000101754 Gene: ENSMUSG00000039450
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
8 |
151 |
2.1e-22 |
PFAM |
Pfam:KR
|
9 |
151 |
4.7e-7 |
PFAM |
Pfam:NAD_binding_10
|
11 |
182 |
3.9e-9 |
PFAM |
Pfam:adh_short_C2
|
14 |
150 |
2.2e-8 |
PFAM |
Pfam:adh_short_C2
|
157 |
234 |
4e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145781
|
SMART Domains |
Protein: ENSMUSP00000123038 Gene: ENSMUSG00000025145
Domain | Start | End | E-Value | Type |
LRR
|
57 |
84 |
9.11e0 |
SMART |
LRR
|
85 |
112 |
1.01e-1 |
SMART |
Blast:LRR
|
113 |
142 |
1e-10 |
BLAST |
LRR
|
143 |
170 |
4.47e-3 |
SMART |
LRR
|
171 |
198 |
2.2e-2 |
SMART |
LRR
|
199 |
226 |
1.66e2 |
SMART |
coiled coil region
|
360 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150225
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142229
|
SMART Domains |
Protein: ENSMUSP00000119523 Gene: ENSMUSG00000018012
Domain | Start | End | E-Value | Type |
RHO
|
6 |
172 |
3.19e-127 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cand1 |
C |
A |
10: 119,047,040 (GRCm39) |
V817L |
probably benign |
Het |
Cdc16 |
T |
G |
8: 13,817,575 (GRCm39) |
Y295* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,113,491 (GRCm39) |
N758K |
unknown |
Het |
Cep295 |
A |
G |
9: 15,234,148 (GRCm39) |
L2216S |
probably benign |
Het |
Chpf2 |
A |
G |
5: 24,797,259 (GRCm39) |
E735G |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,683,848 (GRCm39) |
T432A |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,295,246 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
T |
G |
13: 25,051,157 (GRCm39) |
D464E |
probably damaging |
Het |
Dst |
G |
T |
1: 34,345,705 (GRCm39) |
A7622S |
probably damaging |
Het |
Fdx1 |
A |
T |
9: 51,859,949 (GRCm39) |
I127N |
probably damaging |
Het |
Fem1a |
A |
G |
17: 56,565,355 (GRCm39) |
I483V |
possibly damaging |
Het |
Gcc2 |
C |
A |
10: 58,094,070 (GRCm39) |
D51E |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,088 (GRCm39) |
S178P |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,583,379 (GRCm39) |
Q161R |
probably damaging |
Het |
Myh3 |
T |
C |
11: 66,981,681 (GRCm39) |
Y757H |
probably damaging |
Het |
Myo1h |
A |
C |
5: 114,453,132 (GRCm39) |
|
probably benign |
Het |
Nudt13 |
T |
A |
14: 20,356,418 (GRCm39) |
S114R |
probably damaging |
Het |
Omg |
T |
C |
11: 79,393,540 (GRCm39) |
N106S |
possibly damaging |
Het |
Pbrm1 |
T |
C |
14: 30,809,576 (GRCm39) |
V1163A |
probably damaging |
Het |
Pi4k2b |
T |
A |
5: 52,918,292 (GRCm39) |
Y350* |
probably null |
Het |
Prr29 |
C |
A |
11: 106,266,033 (GRCm39) |
T32K |
possibly damaging |
Het |
Psd4 |
C |
T |
2: 24,284,298 (GRCm39) |
A54V |
probably benign |
Het |
Scd3 |
A |
G |
19: 44,224,247 (GRCm39) |
H160R |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,098,924 (GRCm39) |
L1387P |
probably damaging |
Het |
Stk35 |
A |
G |
2: 129,643,912 (GRCm39) |
T299A |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 130,092,814 (GRCm39) |
S1238N |
probably benign |
Het |
Utp11 |
T |
C |
4: 124,576,250 (GRCm39) |
K131R |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
Zan |
T |
C |
5: 137,462,375 (GRCm39) |
T935A |
unknown |
Het |
|
Other mutations in Lrrc45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01120:Lrrc45
|
APN |
11 |
120,610,836 (GRCm39) |
missense |
probably benign |
|
IGL01536:Lrrc45
|
APN |
11 |
120,606,410 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01839:Lrrc45
|
APN |
11 |
120,607,975 (GRCm39) |
splice site |
probably null |
|
IGL02190:Lrrc45
|
APN |
11 |
120,609,334 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02302:Lrrc45
|
APN |
11 |
120,609,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02724:Lrrc45
|
APN |
11 |
120,609,144 (GRCm39) |
missense |
probably benign |
0.25 |
BB002:Lrrc45
|
UTSW |
11 |
120,606,706 (GRCm39) |
missense |
probably benign |
|
BB012:Lrrc45
|
UTSW |
11 |
120,606,706 (GRCm39) |
missense |
probably benign |
|
R0396:Lrrc45
|
UTSW |
11 |
120,605,733 (GRCm39) |
splice site |
probably benign |
|
R0420:Lrrc45
|
UTSW |
11 |
120,606,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Lrrc45
|
UTSW |
11 |
120,605,988 (GRCm39) |
nonsense |
probably null |
|
R0833:Lrrc45
|
UTSW |
11 |
120,609,019 (GRCm39) |
splice site |
probably null |
|
R0942:Lrrc45
|
UTSW |
11 |
120,609,064 (GRCm39) |
unclassified |
probably benign |
|
R1252:Lrrc45
|
UTSW |
11 |
120,606,297 (GRCm39) |
missense |
probably benign |
0.13 |
R1426:Lrrc45
|
UTSW |
11 |
120,610,839 (GRCm39) |
missense |
probably benign |
0.00 |
R1543:Lrrc45
|
UTSW |
11 |
120,610,844 (GRCm39) |
missense |
probably benign |
0.06 |
R1570:Lrrc45
|
UTSW |
11 |
120,610,935 (GRCm39) |
critical splice donor site |
probably null |
|
R2392:Lrrc45
|
UTSW |
11 |
120,610,365 (GRCm39) |
missense |
probably benign |
0.00 |
R3000:Lrrc45
|
UTSW |
11 |
120,609,273 (GRCm39) |
missense |
probably benign |
0.00 |
R3930:Lrrc45
|
UTSW |
11 |
120,609,503 (GRCm39) |
missense |
probably benign |
0.06 |
R4158:Lrrc45
|
UTSW |
11 |
120,609,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4161:Lrrc45
|
UTSW |
11 |
120,609,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4432:Lrrc45
|
UTSW |
11 |
120,606,047 (GRCm39) |
critical splice donor site |
probably null |
|
R4647:Lrrc45
|
UTSW |
11 |
120,609,947 (GRCm39) |
missense |
probably benign |
0.02 |
R6030:Lrrc45
|
UTSW |
11 |
120,611,474 (GRCm39) |
nonsense |
probably null |
|
R6030:Lrrc45
|
UTSW |
11 |
120,611,474 (GRCm39) |
nonsense |
probably null |
|
R6220:Lrrc45
|
UTSW |
11 |
120,610,353 (GRCm39) |
missense |
probably benign |
0.37 |
R7676:Lrrc45
|
UTSW |
11 |
120,611,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R7925:Lrrc45
|
UTSW |
11 |
120,606,706 (GRCm39) |
missense |
probably benign |
|
R9067:Lrrc45
|
UTSW |
11 |
120,606,649 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9069:Lrrc45
|
UTSW |
11 |
120,607,947 (GRCm39) |
missense |
probably benign |
|
R9366:Lrrc45
|
UTSW |
11 |
120,611,552 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Lrrc45
|
UTSW |
11 |
120,611,058 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Lrrc45
|
UTSW |
11 |
120,611,057 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc45
|
UTSW |
11 |
120,609,491 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Lrrc45
|
UTSW |
11 |
120,609,479 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2012-12-06 |