Incidental Mutation 'R1523:Lrig3'
ID |
167653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrig3
|
Ensembl Gene |
ENSMUSG00000020105 |
Gene Name |
leucine-rich repeats and immunoglobulin-like domains 3 |
Synonyms |
9430095K15Rik, 9030421L11Rik, 9130004I02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R1523 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125844567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 677
(T677K)
|
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: T677K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074360 Gene: ENSMUSG00000020105 AA Change: T677K
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: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
4930503B20Rik |
A |
G |
3: 146,356,864 (GRCm39) |
S15P |
probably damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,256 (GRCm39) |
E100G |
possibly damaging |
Het |
Abcg2 |
T |
C |
6: 58,662,679 (GRCm39) |
F507S |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,761,044 (GRCm39) |
Q913L |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,732,867 (GRCm39) |
N537I |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,270,629 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,168,048 (GRCm39) |
V677D |
probably damaging |
Het |
Ark2c |
G |
A |
18: 77,550,634 (GRCm39) |
T98I |
probably benign |
Het |
Arnt |
C |
T |
3: 95,396,965 (GRCm39) |
P466L |
possibly damaging |
Het |
Arrb1 |
T |
G |
7: 99,243,872 (GRCm39) |
L274R |
probably damaging |
Het |
Atf2 |
A |
T |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,798,981 (GRCm39) |
R381Q |
possibly damaging |
Het |
Cacna1g |
C |
T |
11: 94,333,555 (GRCm39) |
|
probably null |
Het |
Ccr10 |
C |
T |
11: 101,064,501 (GRCm39) |
R343Q |
probably damaging |
Het |
Clca3a2 |
G |
T |
3: 144,777,405 (GRCm39) |
S822* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,568,278 (GRCm39) |
Y1649N |
probably benign |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,043,229 (GRCm39) |
Y1006H |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,735 (GRCm39) |
T101A |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,426,951 (GRCm39) |
F170L |
probably benign |
Het |
Dock1 |
A |
C |
7: 134,345,976 (GRCm39) |
I173L |
possibly damaging |
Het |
Dock4 |
A |
G |
12: 40,743,024 (GRCm39) |
D393G |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,455,374 (GRCm39) |
S113T |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,431,311 (GRCm39) |
D530G |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,435,411 (GRCm39) |
H162L |
possibly damaging |
Het |
Fam131c |
C |
T |
4: 141,110,142 (GRCm39) |
T180I |
probably benign |
Het |
Fndc1 |
A |
G |
17: 7,992,041 (GRCm39) |
S552P |
unknown |
Het |
Foxf1 |
A |
G |
8: 121,811,297 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,828 (GRCm39) |
T560A |
possibly damaging |
Het |
Gabra4 |
G |
A |
5: 71,790,975 (GRCm39) |
T289M |
probably damaging |
Het |
Gcnt1 |
A |
G |
19: 17,307,197 (GRCm39) |
V176A |
probably damaging |
Het |
Gemin8 |
G |
A |
X: 164,963,644 (GRCm39) |
S100N |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,567 (GRCm39) |
I460T |
probably damaging |
Het |
Gm6729 |
A |
G |
10: 86,376,039 (GRCm39) |
|
noncoding transcript |
Het |
Gprin2 |
T |
C |
14: 33,917,036 (GRCm39) |
S245G |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,675,479 (GRCm39) |
I112N |
probably damaging |
Het |
Hspb6 |
A |
G |
7: 30,252,848 (GRCm39) |
D30G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,259,903 (GRCm39) |
D2625G |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf2 |
T |
A |
8: 47,290,875 (GRCm39) |
|
probably null |
Het |
Kdm3b |
T |
C |
18: 34,926,226 (GRCm39) |
|
probably null |
Het |
Khdc3 |
G |
A |
9: 73,010,773 (GRCm39) |
E208K |
possibly damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,636 (GRCm39) |
S263T |
probably benign |
Het |
Magec2 |
T |
A |
X: 61,334,512 (GRCm39) |
D177E |
probably benign |
Het |
Mapkapk3 |
A |
T |
9: 107,140,822 (GRCm39) |
|
probably null |
Het |
Mertk |
T |
C |
2: 128,632,248 (GRCm39) |
|
probably null |
Het |
Metrn |
A |
G |
17: 26,013,951 (GRCm39) |
*292R |
probably null |
Het |
Mllt6 |
G |
T |
11: 97,555,849 (GRCm39) |
A60S |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,280,774 (GRCm39) |
I65M |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,099,929 (GRCm39) |
L1651P |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,103 (GRCm39) |
S15G |
probably benign |
Het |
Nos1ap |
T |
C |
1: 170,165,687 (GRCm39) |
D192G |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,619,032 (GRCm39) |
T844A |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,444,840 (GRCm39) |
L203P |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,912,212 (GRCm39) |
I280T |
probably benign |
Het |
Pclo |
A |
G |
5: 14,838,420 (GRCm39) |
Y4681C |
unknown |
Het |
Phyhip |
T |
A |
14: 70,699,200 (GRCm39) |
M1K |
probably null |
Het |
Plppr4 |
T |
C |
3: 117,116,490 (GRCm39) |
N456D |
probably damaging |
Het |
Prpf31 |
T |
C |
7: 3,643,856 (GRCm39) |
Y473H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,056 (GRCm39) |
V564D |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,378,585 (GRCm39) |
S1123G |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,631,759 (GRCm39) |
Q513K |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,714 (GRCm39) |
V2641A |
probably damaging |
Het |
Rnf40 |
G |
T |
7: 127,189,787 (GRCm39) |
R184L |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,946 (GRCm39) |
K179R |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,174,352 (GRCm39) |
D1309N |
possibly damaging |
Het |
Slc25a38 |
T |
A |
9: 119,952,769 (GRCm39) |
M307K |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,466 (GRCm39) |
D201G |
possibly damaging |
Het |
Sulf1 |
T |
A |
1: 12,887,574 (GRCm39) |
Y249* |
probably null |
Het |
Sult2a4 |
G |
A |
7: 13,643,785 (GRCm39) |
Q261* |
probably null |
Het |
Syndig1 |
G |
A |
2: 149,845,154 (GRCm39) |
A226T |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,601,385 (GRCm39) |
W891* |
probably null |
Het |
Tcf15 |
C |
A |
2: 151,985,808 (GRCm39) |
T88K |
probably damaging |
Het |
Tmem19 |
A |
T |
10: 115,183,122 (GRCm39) |
M117K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,241 (GRCm39) |
L266P |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,201,707 (GRCm39) |
I266V |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,519,486 (GRCm39) |
Y491N |
probably benign |
Het |
Wrn |
C |
T |
8: 33,782,744 (GRCm39) |
E486K |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,501 (GRCm39) |
E262G |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,897,603 (GRCm39) |
D308G |
probably null |
Het |
Zup1 |
T |
C |
10: 33,803,436 (GRCm39) |
I549M |
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 |
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'- AGTGTTGCCTTCCTTTACCAAGACC -3'
(R):5'- TCTCCCTGACCACAGACAGGAATG -3'
Sequencing Primer
(F):5'- ATGGACCTCACCATCCGTG -3'
(R):5'- GCACTGGAGATGACCTTGAAGT -3'
|
Posted On |
2014-04-13 |