Incidental Mutation 'R0720:Lrrc47'
| ID |
63513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc47
|
| Ensembl Gene |
ENSMUSG00000029028 |
| Gene Name |
leucine rich repeat containing 47 |
| Synonyms |
2900010D03Rik |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R0720 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154096260-154105969 bp(+) (GRCm39) |
| Type of Mutation |
splice site (74 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 154104344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030894]
[ENSMUST00000125533]
[ENSMUST00000126119]
[ENSMUST00000130175]
[ENSMUST00000131325]
[ENSMUST00000132541]
[ENSMUST00000139569]
[ENSMUST00000182191]
[ENSMUST00000169622]
[ENSMUST00000146054]
[ENSMUST00000182151]
[ENSMUST00000146543]
[ENSMUST00000143047]
[ENSMUST00000145527]
[ENSMUST00000146426]
|
| AlphaFold |
Q505F5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030894
|
| SMART Domains |
Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
| 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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000139569
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163672
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163672
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000142794
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000169622
|
| SMART Domains |
Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
| 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 |
probably benign
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 |
|
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000146426
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,515 (GRCm39) |
M262V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
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 |
|
IGL02614:Lrrc47
|
APN |
4 |
154,103,392 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAACTGAGCAAAAGCACTTC -3'
(R):5'- CAGACATCTACAGcacacccacac -3'
Sequencing Primer
(F):5'- AGACATGCTCTCAGGGACG -3'
(R):5'- cacacccacacctatacagac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation