Incidental Mutation 'R0129:Lrig3'
| ID |
21577 |
| 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 |
038414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125842812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 579
(Y579C)
|
| 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: Y579C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: Y579C
| 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: ENSMUST00000220332
|
| Meta Mutation Damage Score |
0.9654 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.7%
- 10x: 92.2%
- 20x: 74.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
G |
18: 74,920,265 (GRCm39) |
D31G |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,050,939 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,862 (GRCm39) |
C764R |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,410,976 (GRCm39) |
F171C |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,336,395 (GRCm39) |
F408S |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,474,163 (GRCm39) |
L26P |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,650,600 (GRCm39) |
M524K |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,635,370 (GRCm39) |
I922N |
probably damaging |
Het |
| Atp5pd |
T |
C |
11: 115,308,744 (GRCm39) |
E47G |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,835,755 (GRCm39) |
D70G |
probably benign |
Het |
| Bola2 |
G |
A |
7: 126,295,731 (GRCm39) |
V56M |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,944,918 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
A |
G |
12: 111,271,393 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,710,185 (GRCm39) |
N403S |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,847 (GRCm39) |
M662V |
probably benign |
Het |
| Chd3 |
C |
A |
11: 69,239,327 (GRCm39) |
E1607* |
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,946,285 (GRCm39) |
Y9* |
probably null |
Het |
| Clta |
A |
G |
4: 44,032,424 (GRCm39) |
N200S |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,129,956 (GRCm39) |
S1722F |
possibly damaging |
Het |
| Cyria |
C |
T |
12: 12,412,350 (GRCm39) |
T204I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,800,576 (GRCm39) |
S905P |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,343 (GRCm39) |
K1347R |
probably damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,441 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,370,131 (GRCm39) |
A4519S |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,838,466 (GRCm39) |
C1120R |
probably benign |
Het |
| Efs |
C |
T |
14: 55,154,680 (GRCm39) |
A427T |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,531,799 (GRCm39) |
E399G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,225,083 (GRCm39) |
T1431A |
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,690,120 (GRCm39) |
S830P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,355,357 (GRCm39) |
C2203S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,326,637 (GRCm39) |
V120M |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,546,503 (GRCm39) |
T1026I |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,345,658 (GRCm39) |
I394T |
probably benign |
Het |
| Ldlrap1 |
A |
C |
4: 134,484,733 (GRCm39) |
V87G |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,580,403 (GRCm39) |
V155I |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,116,933 (GRCm39) |
N116I |
probably damaging |
Het |
| Lonp2 |
C |
T |
8: 87,361,518 (GRCm39) |
R232C |
probably damaging |
Het |
| Lrch1 |
C |
A |
14: 75,073,186 (GRCm39) |
C151F |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,327,068 (GRCm39) |
S4808G |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,513,494 (GRCm39) |
K501N |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,165,337 (GRCm39) |
R1523L |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,312,914 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
C |
4: 138,165,032 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,901,411 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
G |
C |
2: 26,350,470 (GRCm39) |
H2223Q |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,053,936 (GRCm39) |
L2200M |
probably benign |
Het |
| Odad3 |
G |
T |
9: 21,904,848 (GRCm39) |
R313S |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,667 (GRCm39) |
|
probably null |
Het |
| Or12k5 |
G |
A |
2: 36,895,057 (GRCm39) |
R190* |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,196 (GRCm39) |
F206L |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,236 (GRCm39) |
Y113C |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,722 (GRCm39) |
|
probably null |
Het |
| Ppm1h |
G |
A |
10: 122,777,260 (GRCm39) |
G509R |
probably damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,345,207 (GRCm39) |
E94K |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,509,164 (GRCm39) |
I372F |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 162,119,990 (GRCm39) |
T159I |
probably benign |
Het |
| Rab20 |
A |
G |
8: 11,504,415 (GRCm39) |
F95S |
probably damaging |
Het |
| Rfc3 |
A |
C |
5: 151,574,616 (GRCm39) |
M1R |
probably null |
Het |
| Skp2 |
A |
G |
15: 9,125,280 (GRCm39) |
S100P |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,432,352 (GRCm39) |
T684S |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,782 (GRCm39) |
K355E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,610,903 (GRCm39) |
K355N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,750,800 (GRCm39) |
|
probably benign |
Het |
| Tsfm |
A |
G |
10: 126,866,339 (GRCm39) |
L74P |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,564,609 (GRCm39) |
N28509K |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,629,252 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,330 (GRCm39) |
H322Q |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,706,441 (GRCm39) |
S212T |
probably benign |
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 |
|
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 |
|
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'- GACGTTCGCTTGGAAGAAAGACAAC -3'
(R):5'- ACATCGCTGTGTCCCAGACAAAG -3'
Sequencing Primer
(F):5'- CTTGGAAGAAAGACAACGAAGC -3'
(R):5'- AAAGGGTCTGGTTCATTTTAATCCTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation