Incidental Mutation 'IGL01757:Lrrc46'
| ID |
153222 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc46
|
| Ensembl Gene |
ENSMUSG00000020878 |
| Gene Name |
leucine rich repeat containing 46 |
| Synonyms |
1700006D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96925428-96932195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96926701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 154
(Y154C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021249]
[ENSMUST00000021251]
[ENSMUST00000153482]
|
| AlphaFold |
Q9DAP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021249
|
| SMART Domains |
Protein: ENSMUSP00000021249
Gene: ENSMUSG00000020877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C69
|
83 |
254 |
2e-10 |
PFAM |
|
coiled coil region
|
362 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021251
AA Change: Y154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021251
Gene: ENSMUSG00000020878
AA Change: Y154C
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1h6ua2
|
44 |
150 |
1e-15 |
SMART |
|
Blast:LRR
|
69 |
91 |
7e-6 |
BLAST |
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133054
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153482
|
| SMART Domains |
Protein: ENSMUSP00000116606
Gene: ENSMUSG00000020877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C69
|
59 |
181 |
2.4e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
| Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
probably damaging |
Het |
|
| Other mutations in Lrrc46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Lrrc46
|
APN |
11 |
96,926,354 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0054:Lrrc46
|
UTSW |
11 |
96,929,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Lrrc46
|
UTSW |
11 |
96,929,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Lrrc46
|
UTSW |
11 |
96,931,903 (GRCm39) |
unclassified |
probably benign |
|
|
R1104:Lrrc46
|
UTSW |
11 |
96,926,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Lrrc46
|
UTSW |
11 |
96,925,556 (GRCm39) |
unclassified |
probably benign |
|
|
R2394:Lrrc46
|
UTSW |
11 |
96,929,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Lrrc46
|
UTSW |
11 |
96,925,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2932:Lrrc46
|
UTSW |
11 |
96,931,935 (GRCm39) |
unclassified |
probably benign |
|
|
R4361:Lrrc46
|
UTSW |
11 |
96,925,496 (GRCm39) |
unclassified |
probably benign |
|
|
R4678:Lrrc46
|
UTSW |
11 |
96,925,719 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4989:Lrrc46
|
UTSW |
11 |
96,931,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Lrrc46
|
UTSW |
11 |
96,926,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Lrrc46
|
UTSW |
11 |
96,931,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Lrrc46
|
UTSW |
11 |
96,927,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6860:Lrrc46
|
UTSW |
11 |
96,926,371 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7373:Lrrc46
|
UTSW |
11 |
96,929,706 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8188:Lrrc46
|
UTSW |
11 |
96,931,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Lrrc46
|
UTSW |
11 |
96,925,773 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2014-02-04 |
Incidental Mutation