Incidental Mutation 'R6484:Lrig3'
ID |
517823 |
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 |
044616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R6484 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 125832478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074807]
[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 null
Transcript: ENSMUST00000074807
|
SMART Domains |
Protein: ENSMUSP00000074360 Gene: ENSMUSG00000020105
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 |
probably null
Transcript: ENSMUST00000074807
|
SMART Domains |
Protein: ENSMUSP00000074360 Gene: ENSMUSG00000020105
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: ENSMUST00000217813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220332
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
Validation Efficiency |
100% (60/60) |
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 |
Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
Dthd1 |
A |
G |
5: 62,971,675 (GRCm39) |
N166S |
probably benign |
Het |
Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,836,744 (GRCm39) |
I104V |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
Or5b105 |
A |
G |
19: 13,080,431 (GRCm39) |
V79A |
probably benign |
Het |
P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
Poln |
C |
T |
5: 34,286,857 (GRCm39) |
A104T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
Rcbtb2 |
A |
T |
14: 73,414,490 (GRCm39) |
S434C |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
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 |
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 |
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'- TCACTCCCTGTAATAAATTGGAGGG -3'
(R):5'- TACCAGGTGTCCACTCAGTATTTG -3'
Sequencing Primer
(F):5'- GTTTTAGCACTGACTGGG -3'
(R):5'- ATCTGAGTGGGAACTTCGGTAACC -3'
|
Posted On |
2018-05-21 |