Incidental Mutation 'R1252:Lrrc45'
| ID |
151810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc45
|
| Ensembl Gene |
ENSMUSG00000025145 |
| Gene Name |
leucine rich repeat containing 45 |
| Synonyms |
|
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120604779-120611954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120606297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 135
(T135N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123038
(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: T135N
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: T135N
| 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: T135N
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: T135N
| 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
AA Change: T135N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145
AA Change: T135N
| 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 |
noncoding transcript
Transcript: ENSMUST00000150225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155187
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAAAGCTCCTTCGACAGAAC -3'
(R):5'- GGACAGGGTGCAACTTAATACAGCC -3'
Sequencing Primer
(F):5'- TCCTTCGACAGAACAAGTCTATTCAG -3'
(R):5'- GGTGCAACTTAATACAGCCCAATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation