Incidental Mutation 'IGL01536:Lrrc45'
| ID |
89973 |
| 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: 0.193)
|
| Stock # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120606410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 173
(T173S)
|
| 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 |
probably benign
Transcript: ENSMUST00000026139
AA Change: T173S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: T173S
| 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 |
noncoding transcript
Transcript: ENSMUST00000128543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145781
AA Change: T173S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: T173S
| 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 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
| Dtx2 |
A |
G |
5: 136,038,940 (GRCm39) |
|
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
| Fads1 |
C |
A |
19: 10,171,394 (GRCm39) |
Q342K |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,021,966 (GRCm39) |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,475 (GRCm39) |
N956S |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,188,180 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,858,782 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation