Incidental Mutation 'R4073:Lrig3'
ID |
316404 |
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 |
041621-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R4073 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125849277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 999
(T999I)
|
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 benign
Transcript: ENSMUST00000074807
AA Change: T999I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074360 Gene: ENSMUSG00000020105 AA Change: T999I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
96% (67/70) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932415M13Rik |
C |
T |
17: 54,031,494 (GRCm39) |
|
noncoding transcript |
Het |
Alox12 |
T |
C |
11: 70,138,136 (GRCm39) |
N400D |
probably damaging |
Het |
Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
Cbs |
C |
T |
17: 31,851,979 (GRCm39) |
C8Y |
possibly damaging |
Het |
Ccdc103 |
C |
T |
11: 102,774,925 (GRCm39) |
R175W |
probably damaging |
Het |
Clasp1 |
T |
C |
1: 118,431,578 (GRCm39) |
F171L |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Cytl1 |
A |
G |
5: 37,892,940 (GRCm39) |
I17V |
unknown |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,896,296 (GRCm39) |
S768R |
probably benign |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Ehhadh |
T |
C |
16: 21,585,257 (GRCm39) |
D208G |
probably benign |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Erbin |
T |
C |
13: 103,996,619 (GRCm39) |
E211G |
probably damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Gpd2 |
A |
G |
2: 57,180,025 (GRCm39) |
R91G |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Il23r |
A |
G |
6: 67,463,106 (GRCm39) |
I129T |
probably damaging |
Het |
Jph4 |
T |
C |
14: 55,352,497 (GRCm39) |
S79G |
probably benign |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Lrrc71 |
G |
A |
3: 87,652,569 (GRCm39) |
T185I |
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,292,185 (GRCm39) |
D219G |
probably benign |
Het |
Mtor |
T |
A |
4: 148,633,832 (GRCm39) |
S2342T |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,798,958 (GRCm39) |
S10G |
probably benign |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Nrm |
T |
A |
17: 36,172,424 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,395,541 (GRCm39) |
H1047Q |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or2t47 |
T |
C |
11: 58,442,888 (GRCm39) |
Y59C |
probably damaging |
Het |
Or4k5 |
A |
G |
14: 50,385,500 (GRCm39) |
V277A |
possibly damaging |
Het |
Or4x13 |
T |
C |
2: 90,231,337 (GRCm39) |
F111L |
probably benign |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Or6aa1 |
T |
A |
7: 86,044,155 (GRCm39) |
I184F |
probably damaging |
Het |
Or8b38 |
T |
C |
9: 37,973,165 (GRCm39) |
L183P |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,114,424 (GRCm39) |
Y112C |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,168,242 (GRCm39) |
R237H |
probably damaging |
Het |
Phactr1 |
ACTT |
A |
13: 43,213,245 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Ptgs1 |
C |
T |
2: 36,127,788 (GRCm39) |
R116C |
probably damaging |
Het |
Rab39b |
T |
C |
X: 74,618,658 (GRCm39) |
|
probably benign |
Het |
Rpp25 |
T |
C |
9: 57,411,592 (GRCm39) |
S25P |
probably benign |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Sbk3 |
G |
T |
7: 4,973,501 (GRCm39) |
A41D |
probably damaging |
Het |
Slc24a3 |
T |
A |
2: 145,455,636 (GRCm39) |
|
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,707,104 (GRCm39) |
I565V |
probably benign |
Het |
Slc35a3 |
T |
C |
3: 116,468,887 (GRCm39) |
T275A |
probably benign |
Het |
Spink12 |
A |
G |
18: 44,237,731 (GRCm39) |
N3S |
possibly damaging |
Het |
Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
Taf2 |
A |
G |
15: 54,915,633 (GRCm39) |
L431P |
probably damaging |
Het |
Tas2r131 |
A |
T |
6: 132,934,802 (GRCm39) |
Y2* |
probably null |
Het |
Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
Trpv1 |
T |
C |
11: 73,141,606 (GRCm39) |
V175A |
probably damaging |
Het |
Usp21 |
T |
C |
1: 171,109,746 (GRCm39) |
|
probably benign |
Het |
Vmn1r25 |
A |
G |
6: 57,955,572 (GRCm39) |
V239A |
possibly damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,464,384 (GRCm39) |
C1514F |
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 |
R1673:Lrig3
|
UTSW |
10 |
125,846,036 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTCCAACTTGAAAAGGTTGCAGC -3'
(R):5'- CCCAAGTGTATTTCAGAAGCG -3'
Sequencing Primer
(F):5'- CTTGAAAAGGTTGCAGCTCTGACC -3'
(R):5'- GGATTTAGAACTCACAGGATCTCACG -3'
|
Posted On |
2015-05-15 |