Incidental Mutation 'IGL01573:Lrrc72'
| ID |
91171 |
| 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: 0.073)
|
| Stock # |
IGL01573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
36258344-36303397 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 36262561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020853]
[ENSMUST00000122115]
[ENSMUST00000221155]
|
| AlphaFold |
A0A1Y7VMI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020853
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122115
|
| SMART Domains |
Protein: ENSMUSP00000113517
Gene: ENSMUSG00000020545
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
1 |
69 |
6.6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152817
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221155
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gntl1 |
A |
G |
11: 121,561,789 (GRCm39) |
S58P |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,113 (GRCm39) |
D1018G |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,240,936 (GRCm39) |
I108V |
possibly damaging |
Het |
| Il7 |
T |
C |
3: 7,638,903 (GRCm39) |
I154M |
possibly damaging |
Het |
| Itga9 |
C |
A |
9: 118,706,298 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,640 (GRCm39) |
|
probably benign |
Het |
| Mbd3 |
G |
T |
10: 80,229,095 (GRCm39) |
Q233K |
probably benign |
Het |
| Mettl5 |
G |
A |
2: 69,711,659 (GRCm39) |
A69V |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,563,890 (GRCm39) |
C425F |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,162,090 (GRCm39) |
I395V |
unknown |
Het |
| Nelfb |
A |
G |
2: 25,093,969 (GRCm39) |
L393P |
probably damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,545 (GRCm39) |
M37K |
probably damaging |
Het |
| Rgs5 |
T |
C |
1: 169,504,413 (GRCm39) |
I21T |
probably benign |
Het |
| Slc22a2 |
G |
A |
17: 12,824,848 (GRCm39) |
V237I |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,318,209 (GRCm39) |
M621V |
probably benign |
Het |
| Slco1a4 |
A |
G |
6: 141,758,577 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,185 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,274,700 (GRCm39) |
M15T |
possibly damaging |
Het |
|
| Other mutations in Lrrc72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Lrrc72
|
APN |
12 |
36,271,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-12-09 |
Incidental Mutation