Incidental Mutation 'R3000:Lrrc45'
ID |
257259 |
Institutional Source |
Beutler Lab
|
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 # |
R3000 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120609273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 377
(D377E)
|
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: D377E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000026139 Gene: ENSMUSG00000025145 AA Change: D377E
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 |
probably benign
Transcript: ENSMUST00000145781
AA Change: D377E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123038 Gene: ENSMUSG00000025145 AA Change: D377E
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank1 |
A |
G |
8: 23,609,447 (GRCm39) |
K1364E |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,307,755 (GRCm39) |
N331K |
probably damaging |
Het |
Bco2 |
C |
A |
9: 50,450,229 (GRCm39) |
D324Y |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,915,342 (GRCm39) |
*211R |
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,619,456 (GRCm39) |
H228Q |
probably damaging |
Het |
Lrfn1 |
G |
A |
7: 28,166,832 (GRCm39) |
G742E |
probably damaging |
Het |
Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
Mcoln3 |
T |
A |
3: 145,839,662 (GRCm39) |
I338N |
possibly damaging |
Het |
Mep1b |
G |
A |
18: 21,226,361 (GRCm39) |
G408S |
probably damaging |
Het |
Pdlim5 |
C |
A |
3: 142,017,892 (GRCm39) |
Q125H |
probably damaging |
Het |
Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,813,460 (GRCm39) |
R4000H |
probably damaging |
Het |
Ripor3 |
A |
T |
2: 167,833,100 (GRCm39) |
Y357N |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,670,033 (GRCm39) |
D1679E |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,344,016 (GRCm39) |
R305C |
probably benign |
Het |
Tex10 |
A |
T |
4: 48,459,393 (GRCm39) |
|
probably null |
Het |
Ttc21a |
T |
C |
9: 119,781,320 (GRCm39) |
Y498H |
probably benign |
Het |
Txnrd2 |
T |
C |
16: 18,273,263 (GRCm39) |
F239S |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,360,949 (GRCm39) |
L173Q |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,468,714 (GRCm39) |
N2982K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGTATGACAGCGGCCTAAC -3'
(R):5'- TGCTCTGAAGGCGTCTTGTC -3'
Sequencing Primer
(F):5'- CAGATCGGGAGTCCAAGTTACTC -3'
(R):5'- AAGGCGTCTTGTCCCTGGAG -3'
|
Posted On |
2015-01-11 |