Incidental Mutation 'R6558:Lrrc71'
| ID |
522230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc71
|
| Ensembl Gene |
ENSMUSG00000023084 |
| Gene Name |
leucine rich repeat containing 71 |
| Synonyms |
4933430H15Rik |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87644230-87655932 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87649950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 326
(T326M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023846]
[ENSMUST00000039476]
[ENSMUST00000152006]
|
| AlphaFold |
Q9D3W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023846
AA Change: T326M
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: T326M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
|
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 |
|
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 |
|
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'- AAGGTTCGTATCATGCCCAG -3'
(R):5'- TTCAAGACAAGGGAGCACTG -3'
Sequencing Primer
(F):5'- GAACTACGTGCTAGGCAGTATTCC -3'
(R):5'- ACTGAAGCTGGCCGAGGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation