Incidental Mutation 'R4158:Lrrc45'
ID |
315639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc45
|
Ensembl Gene |
ENSMUSG00000025145 |
Gene Name |
leucine rich repeat containing 45 |
Synonyms |
|
MMRRC Submission |
041001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R4158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120609272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 377
(D377V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018156]
[ENSMUST00000026137]
[ENSMUST00000026139]
[ENSMUST00000055424]
[ENSMUST00000106154]
[ENSMUST00000106155]
[ENSMUST00000145781]
[ENSMUST00000151852]
[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: ENSMUST00000026137
|
SMART Domains |
Protein: ENSMUSP00000026137 Gene: ENSMUSG00000025144
Domain | Start | End | E-Value | Type |
Pfam:CENP-X
|
55 |
107 |
3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026139
AA Change: D377V
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000026139 Gene: ENSMUSG00000025145 AA Change: D377V
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: ENSMUST00000055424
|
SMART Domains |
Protein: ENSMUSP00000050335 Gene: ENSMUSG00000025144
Domain | Start | End | E-Value | Type |
Pfam:CENP-X
|
8 |
78 |
7.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106154
|
SMART Domains |
Protein: ENSMUSP00000101760 Gene: ENSMUSG00000025144
Domain | Start | End | E-Value | Type |
Pfam:CENP-X
|
44 |
114 |
6.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106155
|
SMART Domains |
Protein: ENSMUSP00000101761 Gene: ENSMUSG00000025144
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145781
AA Change: D377V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000123038 Gene: ENSMUSG00000025145 AA Change: D377V
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: ENSMUST00000150225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151852
|
SMART Domains |
Protein: ENSMUSP00000115298 Gene: ENSMUSG00000025145
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
Pfam:LRR_6
|
85 |
108 |
1e-2 |
PFAM |
Blast:LRR
|
113 |
142 |
3e-11 |
BLAST |
Pfam:LRR_6
|
143 |
162 |
7.6e-3 |
PFAM |
Pfam:LRR_1
|
145 |
159 |
6.8e-2 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.0765 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Vat1l |
T |
A |
8: 115,098,469 (GRCm39) |
M413K |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
probably benign |
Het |
|
Other mutations in Lrrc45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Lrrc45
|
APN |
11 |
120,611,436 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTATGACAGCGGCCTAAC -3'
(R):5'- TGCTCTGAAGGCGTCTTGTC -3'
Sequencing Primer
(F):5'- CAGATCGGGAGTCCAAGTTACTC -3'
(R):5'- AAGGCGTCTTGTCCCTGGAG -3'
|
Posted On |
2015-05-14 |