Incidental Mutation 'R6280:Lrig3'
| ID |
507918 |
| 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 |
044450-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R6280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125846848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 872
(I872T)
|
| 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: I872T
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: I872T
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,311,619 (GRCm39) |
D1930N |
probably benign |
Het |
| Adam8 |
A |
G |
7: 139,564,720 (GRCm39) |
L667S |
probably damaging |
Het |
| Adcy4 |
A |
T |
14: 56,016,500 (GRCm39) |
I317N |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,872 (GRCm39) |
F102S |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,522,325 (GRCm39) |
W443R |
probably damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,229 (GRCm39) |
Y156* |
probably null |
Het |
| Bpifc |
C |
T |
10: 85,813,576 (GRCm39) |
V323I |
probably benign |
Het |
| Camp |
T |
G |
9: 109,676,577 (GRCm39) |
I149L |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,473,414 (GRCm38) |
|
probably null |
Het |
| Cibar2 |
A |
G |
8: 120,898,858 (GRCm39) |
I94T |
possibly damaging |
Het |
| Cnih1 |
A |
G |
14: 47,025,634 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,948,323 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,724 (GRCm39) |
D780V |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,084 (GRCm39) |
V442I |
probably benign |
Het |
| Fam83g |
G |
T |
11: 61,594,008 (GRCm39) |
S514I |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,864,969 (GRCm39) |
N93D |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,734,153 (GRCm39) |
S76* |
probably null |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,100,401 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,798,195 (GRCm39) |
L800H |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,512,022 (GRCm39) |
S33T |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,456,072 (GRCm39) |
M743V |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,729,457 (GRCm39) |
N109D |
probably damaging |
Het |
| Hsd3b3 |
A |
G |
3: 98,660,621 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,387,591 (GRCm39) |
S370A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,028,103 (GRCm39) |
D1786E |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,597,534 (GRCm39) |
R27S |
possibly damaging |
Het |
| Il17rb |
G |
A |
14: 29,724,928 (GRCm39) |
A186V |
probably benign |
Het |
| Irak4 |
G |
T |
15: 94,449,691 (GRCm39) |
E57* |
probably null |
Het |
| Kcnh2 |
T |
A |
5: 24,536,921 (GRCm39) |
H221L |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,687 (GRCm39) |
N1149D |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,141,303 (GRCm39) |
H702R |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,514 (GRCm39) |
S1236P |
possibly damaging |
Het |
| Krt77 |
T |
A |
15: 101,773,910 (GRCm39) |
D248V |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,106 (GRCm39) |
N52S |
possibly damaging |
Het |
| Lhfpl6 |
T |
C |
3: 53,167,935 (GRCm39) |
Y170H |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,243 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
C |
3: 129,582,412 (GRCm39) |
E525G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,453 (GRCm39) |
T726A |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,813,283 (GRCm39) |
N46K |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,490,613 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
C |
8: 87,579,794 (GRCm39) |
N669K |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,257,739 (GRCm39) |
D26G |
probably benign |
Het |
| Neu4 |
G |
A |
1: 93,952,873 (GRCm39) |
S414N |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,212,935 (GRCm39) |
D336G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,954,509 (GRCm39) |
G3691V |
possibly damaging |
Het |
| Or4c52 |
A |
C |
2: 89,845,393 (GRCm39) |
I40L |
possibly damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,364 (GRCm39) |
N17S |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,288,627 (GRCm39) |
S94T |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,770 (GRCm39) |
H290R |
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,634 (GRCm39) |
L242Q |
probably damaging |
Het |
| Pou2f3 |
G |
T |
9: 43,050,635 (GRCm39) |
L242M |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,289,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,710,326 (GRCm39) |
S49G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,129 (GRCm39) |
L1626P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,555 (GRCm39) |
S534P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,702,939 (GRCm39) |
Y545C |
probably damaging |
Het |
| Rwdd4a |
A |
G |
8: 47,995,832 (GRCm39) |
T71A |
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,982,738 (GRCm39) |
F504L |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,167,703 (GRCm39) |
T231A |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,377 (GRCm39) |
S468G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,310 (GRCm39) |
N697S |
probably benign |
Het |
| Spint1 |
T |
A |
2: 119,075,759 (GRCm39) |
V194E |
possibly damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,434,905 (GRCm39) |
M14K |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,608 (GRCm39) |
K2622E |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,338 (GRCm39) |
N614S |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,190 (GRCm39) |
C261S |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,373 (GRCm39) |
I44N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,502 (GRCm39) |
L17807P |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,873,492 (GRCm39) |
R121W |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,291 (GRCm39) |
H189L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,212 (GRCm39) |
S761G |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,200,830 (GRCm39) |
K34* |
probably null |
Het |
| Zfp120 |
A |
T |
2: 149,959,964 (GRCm39) |
S141R |
possibly damaging |
Het |
| Zfp462 |
C |
G |
4: 55,010,253 (GRCm39) |
P740A |
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 |
|
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 |
|
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'- AGCTGCAAAGCCATCCCTTG -3'
(R):5'- TTTGTAACCTTGGGCCAGG -3'
Sequencing Primer
(F):5'- CAGAATAGATCTTCCCTGACTGTTG -3'
(R):5'- TAACCTTGGGCCAGGACCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation