Incidental Mutation 'IGL02033:Lrrc28'
| ID |
184443 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc28
|
| Ensembl Gene |
ENSMUSG00000030556 |
| Gene Name |
leucine rich repeat containing 28 |
| Synonyms |
2310058O11Rik, 2210012C09Rik, 1300004K21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
67163158-67295016 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 67209605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053950]
[ENSMUST00000187953]
[ENSMUST00000190276]
[ENSMUST00000191035]
|
| AlphaFold |
Q3TX51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053950
|
| SMART Domains |
Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
63 |
1.33e-1 |
SMART |
|
LRR
|
64 |
86 |
3.24e0 |
SMART |
|
LRR
|
87 |
109 |
1.06e1 |
SMART |
|
LRR_TYP
|
110 |
132 |
6.67e-2 |
SMART |
|
LRR
|
133 |
156 |
6.4e0 |
SMART |
|
LRR
|
179 |
202 |
1.64e-1 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190276
|
| SMART Domains |
Protein: ENSMUSP00000140972
Gene: ENSMUSG00000030556
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
59 |
3.7e-3 |
SMART |
|
LRR
|
64 |
83 |
1.2e0 |
SMART |
|
LRR
|
87 |
109 |
4.4e-2 |
SMART |
|
LRR_TYP
|
110 |
133 |
2.3e-6 |
SMART |
|
LRR
|
133 |
153 |
1.1e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191035
|
| SMART Domains |
Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
63 |
1.33e-1 |
SMART |
|
LRR
|
64 |
86 |
3.24e0 |
SMART |
|
LRR
|
87 |
109 |
1.06e1 |
SMART |
|
LRR
|
110 |
132 |
8.09e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191062
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
| Adam30 |
G |
T |
3: 98,068,787 (GRCm39) |
V79F |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
| Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
| Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
| Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
| Fbxw13 |
T |
C |
9: 109,010,484 (GRCm39) |
I385V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
| Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
| Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,661,232 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
| Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
| Spata16 |
G |
A |
3: 26,967,483 (GRCm39) |
|
probably null |
Het |
| Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
possibly damaging |
Het |
|
| Other mutations in Lrrc28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Lrrc28
|
APN |
7 |
67,278,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01583:Lrrc28
|
APN |
7 |
67,195,223 (GRCm39) |
splice site |
probably null |
|
|
IGL02483:Lrrc28
|
APN |
7 |
67,267,731 (GRCm39) |
splice site |
probably benign |
|
|
IGL02750:Lrrc28
|
APN |
7 |
67,181,431 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB002:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Lrrc28
|
UTSW |
7 |
67,278,090 (GRCm39) |
splice site |
probably benign |
|
|
R0563:Lrrc28
|
UTSW |
7 |
67,195,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Lrrc28
|
UTSW |
7 |
67,267,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Lrrc28
|
UTSW |
7 |
67,267,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Lrrc28
|
UTSW |
7 |
67,209,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Lrrc28
|
UTSW |
7 |
67,290,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2149:Lrrc28
|
UTSW |
7 |
67,181,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2185:Lrrc28
|
UTSW |
7 |
67,195,201 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4479:Lrrc28
|
UTSW |
7 |
67,181,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5205:Lrrc28
|
UTSW |
7 |
67,181,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7008:Lrrc28
|
UTSW |
7 |
67,245,459 (GRCm39) |
intron |
probably benign |
|
|
R7925:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Lrrc28
|
UTSW |
7 |
67,245,455 (GRCm39) |
missense |
unknown |
|
|
R8360:Lrrc28
|
UTSW |
7 |
67,290,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Lrrc28
|
UTSW |
7 |
67,278,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8919:Lrrc28
|
UTSW |
7 |
67,268,833 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9412:Lrrc28
|
UTSW |
7 |
67,181,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lrrc28
|
UTSW |
7 |
67,179,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2014-05-07 |
Incidental Mutation