Incidental Mutation 'R1673:Lrig3'
| ID |
187832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrig3
|
| Ensembl Gene |
ENSMUSG00000020105 |
| Gene Name |
leucine-rich repeats and immunoglobulin-like domains 3 |
| Synonyms |
9430095K15Rik, 9030421L11Rik, 9130004I02Rik |
| MMRRC Submission |
039709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R1673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125846036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 822
(T822A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074807]
|
| AlphaFold |
Q6P1C6 |
| PDB Structure |
Crystal structure of an Immunoglobulin I-set domain of Lrig3 protein (Lrig3) from MUS MUSCULUS at 1.70 A resolution [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074807
AA Change: T822A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: T822A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
LRRNT
|
46 |
78 |
6.74e-2 |
SMART |
|
LRR
|
72 |
96 |
4.45e1 |
SMART |
|
LRR
|
97 |
120 |
1.06e1 |
SMART |
|
LRR
|
144 |
166 |
1.14e0 |
SMART |
|
LRR
|
168 |
189 |
1.62e2 |
SMART |
|
LRR
|
190 |
214 |
1.09e1 |
SMART |
|
LRR
|
215 |
237 |
1.71e1 |
SMART |
|
LRR
|
238 |
261 |
2.29e0 |
SMART |
|
LRR
|
262 |
285 |
3.07e-1 |
SMART |
|
LRR
|
286 |
309 |
2.49e-1 |
SMART |
|
LRR
|
310 |
333 |
1.29e1 |
SMART |
|
LRR
|
334 |
357 |
6.22e0 |
SMART |
|
LRR
|
358 |
384 |
6.05e0 |
SMART |
|
LRR_TYP
|
385 |
408 |
1.56e-2 |
SMART |
|
LRR_TYP
|
409 |
432 |
1.79e-2 |
SMART |
|
LRRCT
|
444 |
494 |
2.35e-7 |
SMART |
|
IGc2
|
511 |
588 |
1.65e-4 |
SMART |
|
IGc2
|
615 |
683 |
1.33e-8 |
SMART |
|
IGc2
|
709 |
774 |
2.78e-11 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1081 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220332
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele or severely hypomorphic gene trap allele exhibit fusion of the lateral semicircular canal and circling behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,103,165 (GRCm39) |
S809G |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,725,161 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
G |
1: 92,934,606 (GRCm39) |
Q161R |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,028,689 (GRCm39) |
I926T |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,504,988 (GRCm39) |
N314I |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,927,113 (GRCm39) |
S81P |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,007,086 (GRCm39) |
K554* |
probably null |
Het |
| Celsr1 |
A |
G |
15: 85,816,658 (GRCm39) |
Y1762H |
probably benign |
Het |
| Cklf |
A |
G |
8: 104,983,983 (GRCm39) |
T49A |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,600,820 (GRCm39) |
I755L |
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,715,368 (GRCm39) |
Q140* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,294,967 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
C |
A |
7: 119,570,402 (GRCm39) |
E2262* |
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,294 (GRCm39) |
N1228S |
probably benign |
Het |
| Dsg1a |
G |
A |
18: 20,464,561 (GRCm39) |
R352Q |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,042,679 (GRCm39) |
F25L |
probably damaging |
Het |
| Efhd1 |
T |
A |
1: 87,192,404 (GRCm39) |
V78D |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,847,967 (GRCm39) |
|
probably null |
Het |
| Elp2 |
T |
A |
18: 24,744,983 (GRCm39) |
V101D |
possibly damaging |
Het |
| Enpp2 |
A |
T |
15: 54,773,592 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,007,089 (GRCm39) |
T298A |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,146,129 (GRCm39) |
R584L |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,211,196 (GRCm39) |
F368L |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,720,356 (GRCm39) |
I409T |
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,473,655 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,537,637 (GRCm39) |
Q224* |
probably null |
Het |
| Hdac5 |
C |
T |
11: 102,089,631 (GRCm39) |
V860M |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,212,417 (GRCm39) |
R1302C |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,838,966 (GRCm39) |
I110F |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,302,851 (GRCm39) |
D214G |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,869,060 (GRCm39) |
L264Q |
probably benign |
Het |
| Mpnd |
A |
T |
17: 56,317,455 (GRCm39) |
Y64F |
probably damaging |
Het |
| Muc1 |
T |
A |
3: 89,139,079 (GRCm39) |
M520K |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,577,276 (GRCm39) |
S189T |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,242,945 (GRCm39) |
S953P |
possibly damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,230 (GRCm39) |
M281L |
probably benign |
Het |
| Nipal2 |
A |
G |
15: 34,648,841 (GRCm39) |
I116T |
probably damaging |
Het |
| Nptn |
T |
C |
9: 58,531,015 (GRCm39) |
L46P |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,214 (GRCm39) |
S160T |
probably damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,552 (GRCm39) |
T192A |
probably benign |
Het |
| Or51ag1 |
C |
A |
7: 103,155,896 (GRCm39) |
V86F |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,325 (GRCm39) |
F113I |
probably damaging |
Het |
| Pgr |
A |
T |
9: 8,902,069 (GRCm39) |
Y534F |
possibly damaging |
Het |
| Pip4k2a |
A |
T |
2: 18,877,093 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
C |
G |
8: 117,767,514 (GRCm39) |
V1259L |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,085,426 (GRCm39) |
E457G |
probably damaging |
Het |
| Rasa4 |
T |
A |
5: 136,133,491 (GRCm39) |
V650D |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,713,766 (GRCm39) |
|
probably benign |
Het |
| Rps18-ps6 |
A |
T |
13: 97,896,868 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Sdc1 |
G |
A |
12: 8,840,409 (GRCm39) |
R62Q |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 141,934,261 (GRCm39) |
E366G |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,433,248 (GRCm39) |
H2406Q |
probably damaging |
Het |
| Slc30a5 |
A |
G |
13: 100,949,891 (GRCm39) |
V397A |
probably benign |
Het |
| Slc36a2 |
A |
T |
11: 55,075,739 (GRCm39) |
L16H |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,468 (GRCm39) |
V334A |
probably benign |
Het |
| Sox8 |
A |
T |
17: 25,786,456 (GRCm39) |
Y416N |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,387,807 (GRCm39) |
V1416A |
possibly damaging |
Het |
| Stimate |
T |
C |
14: 30,586,391 (GRCm39) |
L72S |
possibly damaging |
Het |
| Stk24 |
T |
A |
14: 121,574,983 (GRCm39) |
I42F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,498 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,685,646 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,880 (GRCm39) |
R417W |
probably damaging |
Het |
| Trim12a |
T |
A |
7: 103,955,264 (GRCm39) |
D153V |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,778,778 (GRCm39) |
N396S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,637,427 (GRCm39) |
K5695R |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,631 (GRCm39) |
R11960C |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,310,906 (GRCm39) |
|
probably null |
Het |
| Uaca |
T |
A |
9: 60,779,438 (GRCm39) |
L1273H |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,073,919 (GRCm39) |
E255G |
probably damaging |
Het |
| Vmn2r54 |
T |
G |
7: 12,350,138 (GRCm39) |
|
probably null |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,423,315 (GRCm39) |
F116L |
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
| Zbtb12 |
TCATC |
TCATCCATC |
17: 35,115,286 (GRCm39) |
|
probably null |
Het |
| Zfp408 |
G |
A |
2: 91,476,353 (GRCm39) |
T367I |
probably damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,286 (GRCm39) |
A480V |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,258,949 (GRCm39) |
T638A |
probably benign |
Het |
| Zfp932 |
G |
T |
5: 110,156,854 (GRCm39) |
G151V |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,302,696 (GRCm39) |
K320E |
probably damaging |
Het |
| Zranb2 |
C |
T |
3: 157,243,277 (GRCm39) |
P91L |
probably damaging |
Het |
|
| Other mutations in Lrig3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Lrig3
|
APN |
10 |
125,849,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00426:Lrig3
|
APN |
10 |
125,808,006 (GRCm39) |
nonsense |
probably null |
|
|
IGL00969:Lrig3
|
APN |
10 |
125,832,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01376:Lrig3
|
APN |
10 |
125,830,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01510:Lrig3
|
APN |
10 |
125,844,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01825:Lrig3
|
APN |
10 |
125,845,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02231:Lrig3
|
APN |
10 |
125,833,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Lrig3
|
APN |
10 |
125,850,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02648:Lrig3
|
APN |
10 |
125,802,463 (GRCm39) |
missense |
probably benign |
|
|
IGL02832:Lrig3
|
APN |
10 |
125,842,871 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03266:Lrig3
|
APN |
10 |
125,849,151 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0023:Lrig3
|
UTSW |
10 |
125,846,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Lrig3
|
UTSW |
10 |
125,842,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Lrig3
|
UTSW |
10 |
125,846,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Lrig3
|
UTSW |
10 |
125,807,986 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Lrig3
|
UTSW |
10 |
125,849,395 (GRCm39) |
splice site |
probably null |
|
|
R0233:Lrig3
|
UTSW |
10 |
125,849,395 (GRCm39) |
splice site |
probably null |
|
|
R0336:Lrig3
|
UTSW |
10 |
125,802,574 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0348:Lrig3
|
UTSW |
10 |
125,849,317 (GRCm39) |
nonsense |
probably null |
|
|
R0502:Lrig3
|
UTSW |
10 |
125,844,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Lrig3
|
UTSW |
10 |
125,846,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Lrig3
|
UTSW |
10 |
125,842,883 (GRCm39) |
splice site |
probably null |
|
|
R1220:Lrig3
|
UTSW |
10 |
125,832,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1230:Lrig3
|
UTSW |
10 |
125,838,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Lrig3
|
UTSW |
10 |
125,838,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1451:Lrig3
|
UTSW |
10 |
125,845,926 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1523:Lrig3
|
UTSW |
10 |
125,844,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Lrig3
|
UTSW |
10 |
125,844,416 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1661:Lrig3
|
UTSW |
10 |
125,833,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1665:Lrig3
|
UTSW |
10 |
125,833,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1778:Lrig3
|
UTSW |
10 |
125,845,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Lrig3
|
UTSW |
10 |
125,832,920 (GRCm39) |
splice site |
probably null |
|
|
R1840:Lrig3
|
UTSW |
10 |
125,849,258 (GRCm39) |
nonsense |
probably null |
|
|
R1882:Lrig3
|
UTSW |
10 |
125,845,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1900:Lrig3
|
UTSW |
10 |
125,838,262 (GRCm39) |
splice site |
probably benign |
|
|
R2160:Lrig3
|
UTSW |
10 |
125,833,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2200:Lrig3
|
UTSW |
10 |
125,832,478 (GRCm39) |
splice site |
probably null |
|
|
R2294:Lrig3
|
UTSW |
10 |
125,802,363 (GRCm39) |
nonsense |
probably null |
|
|
R2518:Lrig3
|
UTSW |
10 |
125,830,310 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3037:Lrig3
|
UTSW |
10 |
125,845,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Lrig3
|
UTSW |
10 |
125,833,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4073:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4074:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4075:Lrig3
|
UTSW |
10 |
125,849,277 (GRCm39) |
missense |
probably benign |
|
|
R4077:Lrig3
|
UTSW |
10 |
125,845,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Lrig3
|
UTSW |
10 |
125,845,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Lrig3
|
UTSW |
10 |
125,846,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Lrig3
|
UTSW |
10 |
125,849,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4505:Lrig3
|
UTSW |
10 |
125,849,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Lrig3
|
UTSW |
10 |
125,846,921 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4860:Lrig3
|
UTSW |
10 |
125,846,921 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4903:Lrig3
|
UTSW |
10 |
125,832,482 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5201:Lrig3
|
UTSW |
10 |
125,849,020 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5307:Lrig3
|
UTSW |
10 |
125,842,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Lrig3
|
UTSW |
10 |
125,844,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Lrig3
|
UTSW |
10 |
125,808,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Lrig3
|
UTSW |
10 |
125,845,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Lrig3
|
UTSW |
10 |
125,844,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Lrig3
|
UTSW |
10 |
125,846,848 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6484:Lrig3
|
UTSW |
10 |
125,832,478 (GRCm39) |
splice site |
probably null |
|
|
R6985:Lrig3
|
UTSW |
10 |
125,850,738 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7089:Lrig3
|
UTSW |
10 |
125,832,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Lrig3
|
UTSW |
10 |
125,842,712 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7347:Lrig3
|
UTSW |
10 |
125,845,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Lrig3
|
UTSW |
10 |
125,845,950 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9188:Lrig3
|
UTSW |
10 |
125,838,935 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9295:Lrig3
|
UTSW |
10 |
125,850,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9378:Lrig3
|
UTSW |
10 |
125,832,953 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9526:Lrig3
|
UTSW |
10 |
125,850,736 (GRCm39) |
missense |
probably benign |
|
|
R9567:Lrig3
|
UTSW |
10 |
125,845,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACAGCCCTTTGGTGGTGAC -3'
(R):5'- ACTGGGAGACACATTCTAGCAGCG -3'
Sequencing Primer
(F):5'- TTTTTGCAGCAGGCAACCAG -3'
(R):5'- CACATTCTAGCAGCGAATGTCTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation