Incidental Mutation 'IGL03063:Lrrc1'
| ID |
409557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc1
|
| Ensembl Gene |
ENSMUSG00000032352 |
| Gene Name |
leucine rich repeat containing 1 |
| Synonyms |
A430093J20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
77338105-77452152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77406551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 36
(F36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113421]
[ENSMUST00000183734]
[ENSMUST00000183873]
|
| AlphaFold |
Q80VQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113421
AA Change: F36S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: F36S
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
13 |
35 |
6.57e-1 |
SMART |
|
LRR
|
36 |
59 |
1.12e2 |
SMART |
|
LRR
|
82 |
104 |
2.15e2 |
SMART |
|
LRR
|
105 |
127 |
3.09e1 |
SMART |
|
LRR
|
128 |
150 |
2.14e0 |
SMART |
|
LRR
|
151 |
173 |
3.02e0 |
SMART |
|
LRR
|
174 |
196 |
3.47e0 |
SMART |
|
LRR
|
197 |
219 |
6.58e0 |
SMART |
|
LRR_TYP
|
220 |
243 |
4.72e-2 |
SMART |
|
LRR
|
266 |
289 |
8.97e0 |
SMART |
|
LRR
|
313 |
335 |
1.49e2 |
SMART |
|
coiled coil region
|
440 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183572
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183734
AA Change: F81S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: F81S
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
57 |
3.18e1 |
SMART |
|
LRR
|
58 |
80 |
6.57e-1 |
SMART |
|
LRR
|
81 |
104 |
1.12e2 |
SMART |
|
LRR
|
127 |
149 |
2.15e2 |
SMART |
|
LRR
|
150 |
172 |
3.09e1 |
SMART |
|
LRR
|
173 |
195 |
2.14e0 |
SMART |
|
LRR
|
196 |
218 |
3.02e0 |
SMART |
|
LRR
|
219 |
241 |
3.47e0 |
SMART |
|
LRR
|
242 |
264 |
6.58e0 |
SMART |
|
LRR_TYP
|
265 |
288 |
4.72e-2 |
SMART |
|
LRR
|
289 |
311 |
8.03e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183873
AA Change: F81S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: F81S
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
36 |
57 |
3.18e1 |
SMART |
|
LRR
|
58 |
80 |
6.57e-1 |
SMART |
|
LRR
|
81 |
104 |
1.12e2 |
SMART |
|
LRR
|
127 |
149 |
2.15e2 |
SMART |
|
LRR
|
150 |
172 |
3.09e1 |
SMART |
|
LRR
|
173 |
195 |
2.14e0 |
SMART |
|
LRR
|
196 |
218 |
3.02e0 |
SMART |
|
LRR
|
219 |
241 |
3.47e0 |
SMART |
|
LRR
|
242 |
264 |
6.58e0 |
SMART |
|
LRR_TYP
|
265 |
288 |
4.72e-2 |
SMART |
|
LRR
|
311 |
334 |
8.97e0 |
SMART |
|
LRR
|
358 |
380 |
1.49e2 |
SMART |
|
coiled coil region
|
485 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184811
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lrrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02556:Lrrc1
|
APN |
9 |
77,342,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Lrrc1
|
APN |
9 |
77,359,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Lrrc1
|
UTSW |
9 |
77,379,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1462:Lrrc1
|
UTSW |
9 |
77,349,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1615:Lrrc1
|
UTSW |
9 |
77,342,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2932:Lrrc1
|
UTSW |
9 |
77,364,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5087:Lrrc1
|
UTSW |
9 |
77,364,740 (GRCm39) |
missense |
probably benign |
|
|
R5907:Lrrc1
|
UTSW |
9 |
77,341,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6443:Lrrc1
|
UTSW |
9 |
77,341,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Lrrc1
|
UTSW |
9 |
77,349,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Lrrc1
|
UTSW |
9 |
77,375,847 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7162:Lrrc1
|
UTSW |
9 |
77,339,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7177:Lrrc1
|
UTSW |
9 |
77,379,504 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Lrrc1
|
UTSW |
9 |
77,365,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7885:Lrrc1
|
UTSW |
9 |
77,349,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8301:Lrrc1
|
UTSW |
9 |
77,451,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Lrrc1
|
UTSW |
9 |
77,365,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Lrrc1
|
UTSW |
9 |
77,342,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Lrrc1
|
UTSW |
9 |
77,362,487 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9225:Lrrc1
|
UTSW |
9 |
77,359,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9336:Lrrc1
|
UTSW |
9 |
77,349,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Lrrc1
|
UTSW |
9 |
77,358,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF020:Lrrc1
|
UTSW |
9 |
77,359,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation