Incidental Mutation 'IGL00519:Lrrc24'
| ID |
5826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc24
|
| Ensembl Gene |
ENSMUSG00000033707 |
| Gene Name |
leucine rich repeat containing 24 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL00519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76599476-76606373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76602263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 164
(N164I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036247]
[ENSMUST00000036423]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000228990]
[ENSMUST00000155735]
[ENSMUST00000142610]
|
| AlphaFold |
Q8BHA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036247
|
| SMART Domains |
Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4505
|
31 |
209 |
5.4e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049956
AA Change: N164I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707
AA Change: N164I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LRRNT
|
30 |
62 |
1.04e-2 |
SMART |
|
LRR
|
61 |
80 |
3.18e2 |
SMART |
|
LRR_TYP
|
81 |
104 |
2.99e-4 |
SMART |
|
LRR
|
106 |
128 |
3.87e1 |
SMART |
|
LRR_TYP
|
129 |
152 |
8.22e-2 |
SMART |
|
LRR_TYP
|
153 |
176 |
5.06e-2 |
SMART |
|
LRR
|
177 |
200 |
2.02e-1 |
SMART |
|
LRRCT
|
212 |
266 |
2e-10 |
SMART |
|
IGc2
|
280 |
360 |
1.02e-9 |
SMART |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127208
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136840
|
| SMART Domains |
Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137649
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155735
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142610
|
| SMART Domains |
Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231059
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
| Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
| Dmrt1 |
T |
C |
19: 25,580,638 (GRCm39) |
L350P |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
| Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
| Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
| Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
| Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
| Other mutations in Lrrc24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01556:Lrrc24
|
APN |
15 |
76,606,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01940:Lrrc24
|
APN |
15 |
76,600,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Lrrc24
|
APN |
15 |
76,602,511 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02315:Lrrc24
|
APN |
15 |
76,602,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Lrrc24
|
APN |
15 |
76,602,504 (GRCm39) |
missense |
probably benign |
|
|
R0240:Lrrc24
|
UTSW |
15 |
76,607,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Lrrc24
|
UTSW |
15 |
76,607,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Lrrc24
|
UTSW |
15 |
76,599,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1430:Lrrc24
|
UTSW |
15 |
76,607,992 (GRCm39) |
splice site |
probably null |
|
|
R1789:Lrrc24
|
UTSW |
15 |
76,606,778 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2131:Lrrc24
|
UTSW |
15 |
76,599,781 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2202:Lrrc24
|
UTSW |
15 |
76,607,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Lrrc24
|
UTSW |
15 |
76,602,176 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4585:Lrrc24
|
UTSW |
15 |
76,607,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Lrrc24
|
UTSW |
15 |
76,602,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5119:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Lrrc24
|
UTSW |
15 |
76,600,306 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5772:Lrrc24
|
UTSW |
15 |
76,606,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Lrrc24
|
UTSW |
15 |
76,602,248 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8334:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0028:Lrrc24
|
UTSW |
15 |
76,600,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation