Incidental Mutation 'R7040:Lrrc47'
| ID |
546989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc47
|
| Ensembl Gene |
ENSMUSG00000029028 |
| Gene Name |
leucine rich repeat containing 47 |
| Synonyms |
2900010D03Rik |
| MMRRC Submission |
045013-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R7040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154096260-154105969 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 154104909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 123
(*123R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030894]
[ENSMUST00000125533]
[ENSMUST00000126119]
[ENSMUST00000130175]
[ENSMUST00000131325]
[ENSMUST00000132541]
[ENSMUST00000139569]
[ENSMUST00000143047]
[ENSMUST00000145527]
[ENSMUST00000146054]
[ENSMUST00000146426]
[ENSMUST00000146543]
[ENSMUST00000169622]
[ENSMUST00000182151]
[ENSMUST00000182191]
|
| 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: ENSMUST00000167947
AA Change: *123R
|
| SMART Domains |
Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028
AA Change: *123R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B3_4
|
1 |
54 |
1.1e-9 |
PFAM |
|
| 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: 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: ENSMUST00000146426
|
| 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: ENSMUST00000163672
|
| 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: 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: ENSMUST00000182191
|
| SMART Domains |
Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 127,835,897 (GRCm39) |
L232P |
possibly damaging |
Het |
| Acaa1a |
T |
C |
9: 119,178,104 (GRCm39) |
V312A |
probably damaging |
Het |
| Bmp2 |
A |
G |
2: 133,403,604 (GRCm39) |
D385G |
probably damaging |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,241 (GRCm39) |
V257A |
probably damaging |
Het |
| Cd3d |
G |
A |
9: 44,896,991 (GRCm39) |
V122I |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,053,519 (GRCm39) |
E199G |
probably damaging |
Het |
| Crb2 |
T |
A |
2: 37,677,696 (GRCm39) |
D326E |
probably benign |
Het |
| Cyp2c29 |
A |
C |
19: 39,318,781 (GRCm39) |
K420N |
possibly damaging |
Het |
| Cyp2g1 |
A |
C |
7: 26,520,184 (GRCm39) |
D472A |
probably damaging |
Het |
| Dab2 |
A |
C |
15: 6,451,732 (GRCm39) |
H116P |
probably damaging |
Het |
| Dnah7b |
G |
C |
1: 46,275,969 (GRCm39) |
E2619Q |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,584,909 (GRCm39) |
M208L |
probably benign |
Het |
| Eif4enif1 |
T |
G |
11: 3,184,040 (GRCm39) |
V521G |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,403,196 (GRCm39) |
M55T |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,985,362 (GRCm39) |
S101G |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,840,679 (GRCm39) |
D33E |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,936,158 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Map4k3 |
A |
C |
17: 80,988,344 (GRCm39) |
V36G |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,276,344 (GRCm39) |
I707N |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,305,194 (GRCm39) |
E166G |
unknown |
Het |
| Mucl1 |
T |
A |
15: 103,783,844 (GRCm39) |
T108S |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,497,805 (GRCm39) |
D53V |
possibly damaging |
Het |
| Naa15 |
T |
A |
3: 51,380,205 (GRCm39) |
L811Q |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,525,267 (GRCm39) |
T1487A |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,878,498 (GRCm39) |
L87H |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,444,374 (GRCm39) |
V245A |
probably damaging |
Het |
| Nt5c2 |
A |
T |
19: 46,881,974 (GRCm39) |
F291Y |
possibly damaging |
Het |
| Ooep |
T |
C |
9: 78,285,683 (GRCm39) |
N43S |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,183 (GRCm39) |
M200V |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,932 (GRCm39) |
D178G |
possibly damaging |
Het |
| Or52i2 |
A |
T |
7: 102,319,937 (GRCm39) |
Q270L |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,717 (GRCm39) |
C85S |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,395,772 (GRCm39) |
I82N |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,713,622 (GRCm39) |
M524K |
possibly damaging |
Het |
| Patj |
T |
C |
4: 98,329,317 (GRCm39) |
S524P |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,907,318 (GRCm39) |
Y401N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,770 (GRCm39) |
T99S |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,774,182 (GRCm39) |
A155T |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,576,993 (GRCm39) |
V585A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,221,693 (GRCm39) |
T302S |
unknown |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,686 (GRCm39) |
E760G |
probably benign |
Het |
| Uimc1 |
T |
A |
13: 55,223,267 (GRCm39) |
|
probably null |
Het |
| Usp16 |
C |
T |
16: 87,277,817 (GRCm39) |
A689V |
probably damaging |
Het |
| Vmn2r60 |
G |
A |
7: 41,791,666 (GRCm39) |
A530T |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,393,772 (GRCm39) |
M1185K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,149,645 (GRCm39) |
S136P |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,529 (GRCm39) |
N175S |
probably benign |
Het |
| Zfp160 |
A |
T |
17: 21,246,794 (GRCm39) |
H448L |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 107,151,641 (GRCm39) |
C451* |
probably null |
Het |
| Zfp945 |
A |
G |
17: 23,071,264 (GRCm39) |
C212R |
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 |
|
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 |
|
|
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 |
|
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'- AGATGTCTGTGTAGGTGTGGAT -3'
(R):5'- GTTCCAAGCACAGCCGTG -3'
Sequencing Primer
(F):5'- AGGTGTGGATATGCTGTAGGTATC -3'
(R):5'- GATGTTCTCAACTGTCTATGCACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation