Incidental Mutation 'R9067:Lrrc45'
| ID |
689322 |
| 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 # |
R9067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120606649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 184
(I184F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026137]
[ENSMUST00000026139]
[ENSMUST00000055424]
[ENSMUST00000106154]
[ENSMUST00000106155]
[ENSMUST00000145781]
[ENSMUST00000151852]
|
| AlphaFold |
Q8CIM1 |
| 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 |
possibly damaging
Transcript: ENSMUST00000026139
AA Change: I184F
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: I184F
| 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: I184F
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: I184F
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
| Aass |
T |
A |
6: 23,077,123 (GRCm39) |
R745S |
probably benign |
Het |
| Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
| Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
| Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
| Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
| Cacnb1 |
C |
A |
11: 97,896,131 (GRCm39) |
D386Y |
probably damaging |
Het |
| Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
| Cyp4f13 |
C |
G |
17: 33,143,801 (GRCm39) |
E508Q |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
| Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
| Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
| Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
| Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
| Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
| Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
| Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
| Kpna2 |
G |
T |
11: 106,882,039 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
| Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
| Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,973 (GRCm39) |
K722N |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
| Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
| Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
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 |
|
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 |
|
|
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'- GCTGTATTAAGTTGCACCCTG -3'
(R):5'- TGAGCCACCATGCCTTAAGC -3'
Sequencing Primer
(F):5'- CCTGTCCCTCTGGTGATGGAG -3'
(R):5'- GAACCATACCCTTCTGTGATTGATGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation