Incidental Mutation 'IGL02632:Lrrc71'
| ID |
301365 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc71
|
| Ensembl Gene |
ENSMUSG00000023084 |
| Gene Name |
leucine rich repeat containing 71 |
| Synonyms |
4933430H15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02632
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87644230-87655932 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87650647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 205
(N205S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000174267]
|
| AlphaFold |
Q9D3W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023846
AA Change: N205S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: N205S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Blast:LRR
|
165 |
191 |
6e-7 |
BLAST |
|
LRR
|
219 |
246 |
4.24e-1 |
SMART |
|
LRR
|
251 |
278 |
1.33e-1 |
SMART |
|
LRR
|
279 |
306 |
1.98e-4 |
SMART |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
414 |
N/A |
INTRINSIC |
|
LRR
|
472 |
499 |
1.83e2 |
SMART |
|
low complexity region
|
547 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174267
|
| SMART Domains |
Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174581
|
| SMART Domains |
Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
67 |
94 |
1e-10 |
BLAST |
|
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
T |
C |
8: 41,208,237 (GRCm39) |
V501A |
possibly damaging |
Het |
| Alpl |
T |
G |
4: 137,481,217 (GRCm39) |
N145T |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,491,216 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,108,181 (GRCm39) |
D640V |
possibly damaging |
Het |
| Atp5po |
T |
C |
16: 91,725,830 (GRCm39) |
E49G |
probably benign |
Het |
| Card14 |
A |
G |
11: 119,229,730 (GRCm39) |
D747G |
probably benign |
Het |
| Cfap47 |
A |
T |
X: 78,540,279 (GRCm39) |
L553H |
probably damaging |
Het |
| Cpz |
A |
T |
5: 35,669,155 (GRCm39) |
D325E |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,103 (GRCm39) |
I948T |
probably benign |
Het |
| Dpysl3 |
A |
T |
18: 43,526,090 (GRCm39) |
S2T |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 39,056,913 (GRCm39) |
V4203A |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,574,186 (GRCm39) |
|
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,958,178 (GRCm39) |
R155G |
probably damaging |
Het |
| Grpr |
A |
T |
X: 162,298,090 (GRCm39) |
V318E |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,667,861 (GRCm39) |
T569A |
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,350,807 (GRCm38) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,735,698 (GRCm39) |
H98R |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,493,628 (GRCm39) |
D663G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,308,340 (GRCm39) |
E521K |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,217 (GRCm39) |
M162V |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,740,036 (GRCm39) |
D739G |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,960,583 (GRCm39) |
F772S |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,815,864 (GRCm39) |
M565I |
probably damaging |
Het |
| Myt1l |
T |
G |
12: 29,964,292 (GRCm39) |
S1077A |
unknown |
Het |
| Nalcn |
T |
C |
14: 123,555,265 (GRCm39) |
T873A |
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,394,082 (GRCm39) |
H448Q |
possibly damaging |
Het |
| Odad2 |
A |
G |
18: 7,214,727 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
T |
C |
17: 37,901,232 (GRCm39) |
E4G |
probably benign |
Het |
| Or51m1 |
A |
G |
7: 103,578,914 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,904 (GRCm39) |
V248A |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,742,054 (GRCm39) |
V292A |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,863 (GRCm39) |
Y477C |
probably damaging |
Het |
| Pramel16 |
A |
G |
4: 143,676,507 (GRCm39) |
I199T |
possibly damaging |
Het |
| Rcbtb1 |
T |
C |
14: 59,462,131 (GRCm39) |
L254P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsl1 |
A |
C |
13: 67,330,227 (GRCm39) |
H225P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,222 (GRCm39) |
I80V |
probably benign |
Het |
| Sema6a |
G |
T |
18: 47,423,222 (GRCm39) |
D261E |
probably damaging |
Het |
| Serpinb9b |
T |
A |
13: 33,223,806 (GRCm39) |
S333T |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,200,941 (GRCm39) |
V277A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,575 (GRCm39) |
H88L |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmprss15 |
T |
A |
16: 78,782,790 (GRCm39) |
N758I |
probably damaging |
Het |
| Ube3b |
C |
T |
5: 114,536,902 (GRCm39) |
A300V |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,192,542 (GRCm39) |
V40I |
probably benign |
Het |
| Vsig4 |
G |
T |
X: 95,291,378 (GRCm39) |
Q265K |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,865,977 (GRCm39) |
D525G |
probably damaging |
Het |
|
| Other mutations in Lrrc71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02030:Lrrc71
|
APN |
3 |
87,652,531 (GRCm39) |
splice site |
probably null |
|
|
IGL02387:Lrrc71
|
APN |
3 |
87,650,378 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02701:Lrrc71
|
APN |
3 |
87,649,079 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0372:Lrrc71
|
UTSW |
3 |
87,653,084 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0505:Lrrc71
|
UTSW |
3 |
87,653,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0827:Lrrc71
|
UTSW |
3 |
87,649,952 (GRCm39) |
splice site |
probably null |
|
|
R1511:Lrrc71
|
UTSW |
3 |
87,652,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1541:Lrrc71
|
UTSW |
3 |
87,649,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1987:Lrrc71
|
UTSW |
3 |
87,649,950 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2054:Lrrc71
|
UTSW |
3 |
87,649,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Lrrc71
|
UTSW |
3 |
87,652,828 (GRCm39) |
nonsense |
probably null |
|
|
R2427:Lrrc71
|
UTSW |
3 |
87,653,309 (GRCm39) |
missense |
probably benign |
|
|
R3700:Lrrc71
|
UTSW |
3 |
87,653,185 (GRCm39) |
splice site |
probably null |
|
|
R4073:Lrrc71
|
UTSW |
3 |
87,652,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4231:Lrrc71
|
UTSW |
3 |
87,648,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4431:Lrrc71
|
UTSW |
3 |
87,650,143 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4477:Lrrc71
|
UTSW |
3 |
87,649,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4562:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
|
R4563:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
|
R4564:Lrrc71
|
UTSW |
3 |
87,652,715 (GRCm39) |
unclassified |
probably benign |
|
|
R4724:Lrrc71
|
UTSW |
3 |
87,646,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4826:Lrrc71
|
UTSW |
3 |
87,650,615 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5156:Lrrc71
|
UTSW |
3 |
87,653,094 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5631:Lrrc71
|
UTSW |
3 |
87,646,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6182:Lrrc71
|
UTSW |
3 |
87,653,101 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6558:Lrrc71
|
UTSW |
3 |
87,649,950 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6885:Lrrc71
|
UTSW |
3 |
87,649,927 (GRCm39) |
splice site |
probably null |
|
|
R7036:Lrrc71
|
UTSW |
3 |
87,655,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Lrrc71
|
UTSW |
3 |
87,650,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Lrrc71
|
UTSW |
3 |
87,650,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7634:Lrrc71
|
UTSW |
3 |
87,650,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Lrrc71
|
UTSW |
3 |
87,649,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Lrrc71
|
UTSW |
3 |
87,646,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Lrrc71
|
UTSW |
3 |
87,647,153 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9041:Lrrc71
|
UTSW |
3 |
87,650,660 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9427:Lrrc71
|
UTSW |
3 |
87,650,368 (GRCm39) |
missense |
probably benign |
|
|
R9583:Lrrc71
|
UTSW |
3 |
87,650,258 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1177:Lrrc71
|
UTSW |
3 |
87,650,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation