Incidental Mutation 'R4161:Lrrc45'
ID |
321533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc45
|
Ensembl Gene |
ENSMUSG00000025145 |
Gene Name |
leucine rich repeat containing 45 |
Synonyms |
|
MMRRC Submission |
041004-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R4161 (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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
A |
G |
9: 121,738,588 (GRCm39) |
Y321C |
probably benign |
Het |
Angptl3 |
T |
C |
4: 98,919,728 (GRCm39) |
S163P |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,382,234 (GRCm39) |
M70T |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,935,281 (GRCm39) |
I339N |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cxcl2 |
A |
T |
5: 91,051,881 (GRCm39) |
|
probably null |
Het |
Exosc3 |
T |
C |
4: 45,320,619 (GRCm39) |
|
probably benign |
Het |
Fads2b |
C |
A |
2: 85,348,853 (GRCm39) |
K86N |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,489,824 (GRCm39) |
A3579T |
probably benign |
Het |
Fat4 |
G |
A |
3: 38,996,958 (GRCm39) |
V1726I |
possibly damaging |
Het |
Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
Hmgcll1 |
A |
T |
9: 75,982,198 (GRCm39) |
|
probably benign |
Het |
Igkv3-12 |
T |
A |
6: 70,495,542 (GRCm39) |
V23E |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,402,919 (GRCm39) |
C95R |
possibly damaging |
Het |
Kif16b |
G |
A |
2: 142,549,324 (GRCm39) |
H1064Y |
probably benign |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Plec |
T |
C |
15: 76,063,851 (GRCm39) |
E2141G |
possibly damaging |
Het |
Pou6f1 |
A |
G |
15: 100,478,724 (GRCm39) |
S395P |
probably damaging |
Het |
Prss12 |
A |
T |
3: 123,279,176 (GRCm39) |
K418* |
probably null |
Het |
Rtn3 |
G |
A |
19: 7,460,444 (GRCm39) |
A2V |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,281,898 (GRCm39) |
T452A |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
Spred3 |
A |
G |
7: 28,861,210 (GRCm39) |
L323P |
probably damaging |
Het |
Srprb |
A |
G |
9: 103,078,529 (GRCm39) |
F67S |
possibly damaging |
Het |
Tk2 |
T |
C |
8: 104,965,465 (GRCm39) |
S101G |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,658,751 (GRCm39) |
L1135P |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Usp38 |
C |
T |
8: 81,719,967 (GRCm39) |
A421T |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,833,277 (GRCm39) |
N3058K |
probably damaging |
Het |
Vmn1r221 |
G |
A |
13: 23,402,176 (GRCm39) |
|
noncoding transcript |
Het |
Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,356 (GRCm39) |
S707P |
probably damaging |
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 |
R4158: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'- TGTATGACAGCGGCCTAACC -3'
(R):5'- TGCTCTGAAGGCGTCTTGTC -3'
Sequencing Primer
(F):5'- CAGATCGGGAGTCCAAGTTACTC -3'
(R):5'- AAGGCGTCTTGTCCCTGGAG -3'
|
Posted On |
2015-06-12 |