Incidental Mutation 'IGL00861:Lrrc72'
| ID |
11836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc72
|
| Ensembl Gene |
ENSMUSG00000020545 |
| Gene Name |
leucine rich repeat containing 72 |
| Synonyms |
4933421E18Rik, 1700108M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL00861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36258344-36303397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36271507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 138
(Q138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020853]
[ENSMUST00000122115]
[ENSMUST00000221155]
|
| AlphaFold |
A0A1Y7VMI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122115
AA Change: Q8L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545
AA Change: Q8L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
1 |
69 |
6.6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221155
AA Change: Q138L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222145
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm2 |
G |
A |
15: 89,207,488 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,601,271 (GRCm39) |
D189E |
possibly damaging |
Het |
| Atg16l1 |
G |
A |
1: 87,702,560 (GRCm39) |
G274S |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 109,988,718 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
C |
14: 32,170,980 (GRCm39) |
Y173C |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,096 (GRCm39) |
D874G |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,125,158 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,718,005 (GRCm39) |
M304K |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 130,000,663 (GRCm39) |
V47A |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,463 (GRCm39) |
K491E |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,160,933 (GRCm39) |
L211P |
possibly damaging |
Het |
| Nxph2 |
T |
A |
2: 23,289,974 (GRCm39) |
F109I |
probably damaging |
Het |
| Oosp3 |
A |
G |
19: 11,689,004 (GRCm39) |
D84G |
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,965,514 (GRCm39) |
R106C |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,134,396 (GRCm39) |
S568P |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,276,453 (GRCm39) |
I1093V |
probably benign |
Het |
| Snx2 |
G |
A |
18: 53,343,869 (GRCm39) |
|
probably null |
Het |
| Washc5 |
G |
T |
15: 59,209,125 (GRCm39) |
T1033K |
probably damaging |
Het |
|
| Other mutations in Lrrc72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01573:Lrrc72
|
APN |
12 |
36,262,561 (GRCm39) |
splice site |
probably null |
|
|
R1905:Lrrc72
|
UTSW |
12 |
36,258,661 (GRCm39) |
splice site |
probably null |
|
|
R3754:Lrrc72
|
UTSW |
12 |
36,262,567 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4429:Lrrc72
|
UTSW |
12 |
36,258,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Lrrc72
|
UTSW |
12 |
36,258,603 (GRCm39) |
nonsense |
probably null |
|
|
R6895:Lrrc72
|
UTSW |
12 |
36,259,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7263:Lrrc72
|
UTSW |
12 |
36,258,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Lrrc72
|
UTSW |
12 |
36,272,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Lrrc72
|
UTSW |
12 |
36,262,692 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8217:Lrrc72
|
UTSW |
12 |
36,258,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Lrrc72
|
UTSW |
12 |
36,258,656 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8973:Lrrc72
|
UTSW |
12 |
36,303,293 (GRCm39) |
missense |
probably benign |
|
|
R9747:Lrrc72
|
UTSW |
12 |
36,264,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Lrrc72
|
UTSW |
12 |
36,258,656 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Lrrc72
|
UTSW |
12 |
36,297,692 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation