Incidental Mutation 'IGL02614:Lrrc47'
| ID |
300586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc47
|
| Ensembl Gene |
ENSMUSG00000029028 |
| Gene Name |
leucine rich repeat containing 47 |
| Synonyms |
2900010D03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
154096260-154105969 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1535 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 154103392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030894]
[ENSMUST00000125533]
[ENSMUST00000126119]
[ENSMUST00000130175]
[ENSMUST00000131325]
[ENSMUST00000132541]
[ENSMUST00000139569]
[ENSMUST00000169622]
[ENSMUST00000182191]
[ENSMUST00000145527]
[ENSMUST00000146543]
[ENSMUST00000143047]
[ENSMUST00000182151]
[ENSMUST00000146426]
[ENSMUST00000146054]
|
| AlphaFold |
Q505F5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030894
AA Change: L438P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: L438P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
7 |
N/A |
INTRINSIC |
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
54 |
N/A |
INTRINSIC |
|
LRR_TYP
|
100 |
123 |
2.61e-4 |
SMART |
|
LRR_TYP
|
130 |
153 |
2.12e-4 |
SMART |
|
LRR
|
155 |
177 |
3.75e0 |
SMART |
|
LRR
|
180 |
202 |
9.77e1 |
SMART |
|
LRR_TYP
|
203 |
226 |
2.27e-4 |
SMART |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
B3_4
|
331 |
507 |
8.94e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125533
|
| SMART Domains |
Protein: ENSMUSP00000138324
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126119
|
| SMART Domains |
Protein: ENSMUSP00000138560
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130175
|
| SMART Domains |
Protein: ENSMUSP00000138675
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131325
|
| SMART Domains |
Protein: ENSMUSP00000138777
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132541
|
| SMART Domains |
Protein: ENSMUSP00000138471
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139569
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169622
AA Change: L460P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: L460P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
LRR_TYP
|
122 |
145 |
2.61e-4 |
SMART |
|
LRR_TYP
|
152 |
175 |
2.12e-4 |
SMART |
|
LRR
|
177 |
199 |
3.75e0 |
SMART |
|
LRR
|
202 |
224 |
9.77e1 |
SMART |
|
LRR_TYP
|
225 |
248 |
2.27e-4 |
SMART |
|
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
B3_4
|
353 |
529 |
8.94e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167947
|
| SMART Domains |
Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B3_4
|
1 |
54 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182191
|
| SMART Domains |
Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145527
|
| SMART Domains |
Protein: ENSMUSP00000138448
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146543
|
| SMART Domains |
Protein: ENSMUSP00000138267
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143047
|
| SMART Domains |
Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182151
|
| SMART Domains |
Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146426
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146054
|
| SMART Domains |
Protein: ENSMUSP00000138605
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably damaging |
Het |
|
| Other mutations in Lrrc47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02502:Lrrc47
|
APN |
4 |
154,100,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03001:Lrrc47
|
APN |
4 |
154,100,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0372:Lrrc47
|
UTSW |
4 |
154,104,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:Lrrc47
|
UTSW |
4 |
154,102,822 (GRCm39) |
unclassified |
probably benign |
|
|
R0720:Lrrc47
|
UTSW |
4 |
154,104,344 (GRCm39) |
splice site |
probably null |
|
|
R1163:Lrrc47
|
UTSW |
4 |
154,096,274 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2078:Lrrc47
|
UTSW |
4 |
154,103,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Lrrc47
|
UTSW |
4 |
154,100,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Lrrc47
|
UTSW |
4 |
154,096,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Lrrc47
|
UTSW |
4 |
154,101,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5687:Lrrc47
|
UTSW |
4 |
154,100,140 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5885:Lrrc47
|
UTSW |
4 |
154,100,429 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6198:Lrrc47
|
UTSW |
4 |
154,100,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Lrrc47
|
UTSW |
4 |
154,100,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7040:Lrrc47
|
UTSW |
4 |
154,104,909 (GRCm39) |
makesense |
probably null |
|
|
R7680:Lrrc47
|
UTSW |
4 |
154,100,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8263:Lrrc47
|
UTSW |
4 |
154,100,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Lrrc47
|
UTSW |
4 |
154,096,421 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9364:Lrrc47
|
UTSW |
4 |
154,100,398 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9483:Lrrc47
|
UTSW |
4 |
154,101,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Lrrc47
|
UTSW |
4 |
154,096,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation