Incidental Mutation 'R4477:Lrrc71'
| ID |
331305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc71
|
| Ensembl Gene |
ENSMUSG00000023084 |
| Gene Name |
leucine rich repeat containing 71 |
| Synonyms |
4933430H15Rik |
| MMRRC Submission |
041734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87644230-87655932 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 87649972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 319
(R319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000039476]
[ENSMUST00000152006]
|
| AlphaFold |
Q9D3W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023846
AA Change: R319G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: R319G
| 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 |
probably benign
Transcript: ENSMUST00000039476
|
| SMART Domains |
Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
|
RGS
|
353 |
472 |
3.36e-11 |
SMART |
|
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
694 |
N/A |
INTRINSIC |
|
RhoGEF
|
768 |
952 |
1.11e-65 |
SMART |
|
PH
|
996 |
1111 |
9.49e-6 |
SMART |
|
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1188 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1343 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1367 |
N/A |
INTRINSIC |
|
low complexity region
|
1478 |
1490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152006
|
| SMART Domains |
Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
|
RGS
|
353 |
472 |
3.36e-11 |
SMART |
|
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174208
|
| 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 |
|
| Meta Mutation Damage Score |
0.1691 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,186,383 (GRCm39) |
S549P |
probably damaging |
Het |
| Agfg1 |
T |
C |
1: 82,853,061 (GRCm39) |
S75P |
probably damaging |
Het |
| AK157302 |
T |
A |
13: 21,679,861 (GRCm39) |
V129E |
possibly damaging |
Het |
| Angpt1 |
A |
G |
15: 42,331,560 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,531,448 (GRCm39) |
I230N |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,789 (GRCm39) |
N77S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,607,200 (GRCm39) |
V1235M |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dbn1 |
CCCGCTCCCGGTAGCGCCGCTC |
CCCGCTC |
13: 55,629,374 (GRCm39) |
|
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
T |
A |
2: 113,274,744 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Gm7138 |
A |
T |
10: 77,612,246 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,422,781 (GRCm39) |
A890T |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,625 (GRCm39) |
T426A |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mmp19 |
A |
T |
10: 128,631,506 (GRCm39) |
T129S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
C |
9: 58,784,582 (GRCm39) |
D1458G |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,487,487 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pdlim5 |
C |
T |
3: 141,964,978 (GRCm39) |
S417N |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,134,153 (GRCm39) |
S478P |
probably damaging |
Het |
| Plekhn1 |
G |
A |
4: 156,307,856 (GRCm39) |
R357W |
probably damaging |
Het |
| Pom121 |
T |
C |
5: 135,410,842 (GRCm39) |
T772A |
unknown |
Het |
| Pramel20 |
A |
G |
4: 143,297,732 (GRCm39) |
I51V |
probably benign |
Het |
| Rasgef1a |
A |
T |
6: 118,062,436 (GRCm39) |
H232L |
possibly damaging |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,024,428 (GRCm39) |
N107S |
probably damaging |
Het |
| Traf3 |
T |
C |
12: 111,215,036 (GRCm39) |
S202P |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
G |
A |
2: 114,027,365 (GRCm39) |
L235F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTAATTGTCAGAGTGGCTC -3'
(R):5'- CAAGTCACTCTGTTCTCTAGGGC -3'
Sequencing Primer
(F):5'- CTATAATTAGAGTTGGGTTTGGCAG -3'
(R):5'- CTCTAGGGCTTGAGGCTGAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation