Incidental Mutation 'IGL02387:Lrrc71'
ID |
291595 |
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 # |
IGL02387
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87644230-87655932 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87650378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 232
(I232V)
|
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: I232V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000023846 Gene: ENSMUSG00000023084 AA Change: I232V
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acap3 |
T |
G |
4: 155,986,617 (GRCm39) |
L311R |
probably damaging |
Het |
Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,807 (GRCm39) |
D464G |
probably damaging |
Het |
Clk2 |
C |
T |
3: 89,083,698 (GRCm39) |
|
probably benign |
Het |
Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
Trim29 |
A |
T |
9: 43,236,149 (GRCm39) |
N460I |
probably benign |
Het |
Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
Het |
Zfyve19 |
C |
T |
2: 119,046,907 (GRCm39) |
|
probably benign |
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 |
|
IGL02632:Lrrc71
|
APN |
3 |
87,650,647 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |