Incidental Mutation 'R3236:Lrig3'
| ID |
259036 |
| 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 |
040618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R3236 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125833056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 310
(C310Y)
|
| 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: C310Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: C310Y
| 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
|
| Meta Mutation Damage Score |
0.7293 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 5730455P16Rik |
G |
A |
11: 80,258,996 (GRCm39) |
L255F |
probably damaging |
Het |
| Aff2 |
T |
A |
X: 68,907,543 (GRCm39) |
V1175E |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,800,022 (GRCm39) |
|
probably null |
Het |
| Armh3 |
A |
T |
19: 45,963,722 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
A |
9: 53,391,048 (GRCm39) |
D1842V |
probably benign |
Het |
| Bcar3 |
C |
A |
3: 122,318,645 (GRCm39) |
Q678K |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,397,995 (GRCm39) |
T243A |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,718,949 (GRCm39) |
N268K |
unknown |
Het |
| Col6a1 |
G |
A |
10: 76,547,154 (GRCm39) |
T737M |
unknown |
Het |
| Cyp3a25 |
T |
C |
5: 145,939,938 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,680 (GRCm39) |
T1466A |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,845,815 (GRCm39) |
T3023I |
probably benign |
Het |
| Ecm1 |
G |
T |
3: 95,642,158 (GRCm39) |
Q476K |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,781,097 (GRCm39) |
|
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,738 (GRCm39) |
Y398H |
probably damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,676 (GRCm39) |
T155K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,131,798 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,297,192 (GRCm39) |
Y387H |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,046,138 (GRCm39) |
N37S |
probably benign |
Het |
| Map6 |
T |
A |
7: 98,986,031 (GRCm39) |
V645E |
probably damaging |
Het |
| Memo1 |
A |
T |
17: 74,509,347 (GRCm39) |
I224K |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,633,612 (GRCm39) |
I602T |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,761 (GRCm39) |
F104Y |
probably damaging |
Het |
| Ndrg3 |
T |
A |
2: 156,785,957 (GRCm39) |
I161F |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,435 (GRCm39) |
R214G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,127 (GRCm39) |
E133G |
possibly damaging |
Het |
| Or4p7 |
T |
C |
2: 88,221,750 (GRCm39) |
I53T |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,328,597 (GRCm39) |
V243A |
probably damaging |
Het |
| Piwil4 |
A |
G |
9: 14,611,544 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,266,986 (GRCm39) |
N252K |
possibly damaging |
Het |
| Ptf1a |
T |
C |
2: 19,450,718 (GRCm39) |
F16S |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,122,293 (GRCm39) |
Y366H |
probably benign |
Het |
| Rbfox1 |
G |
A |
16: 7,225,892 (GRCm39) |
V353I |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,605,360 (GRCm39) |
Y110C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scaf4 |
T |
A |
16: 90,057,105 (GRCm39) |
D82V |
unknown |
Het |
| Serhl |
C |
A |
15: 82,988,604 (GRCm39) |
P177Q |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,246,065 (GRCm39) |
V619A |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,538,652 (GRCm39) |
S1123P |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,668,607 (GRCm39) |
I453V |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,930,773 (GRCm39) |
I617V |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,063,802 (GRCm39) |
D660E |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,236,713 (GRCm39) |
F340I |
probably damaging |
Het |
| Speer4e1 |
T |
A |
5: 14,984,939 (GRCm39) |
E206D |
possibly damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,557 (GRCm39) |
M188K |
probably damaging |
Het |
| Stat6 |
G |
A |
10: 127,488,091 (GRCm39) |
V282I |
possibly damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,501 (GRCm39) |
S253P |
possibly damaging |
Het |
| Szt2 |
A |
C |
4: 118,240,231 (GRCm39) |
|
probably null |
Het |
| Thsd4 |
C |
A |
9: 60,301,670 (GRCm39) |
K208N |
probably benign |
Het |
| Thsd7b |
C |
T |
1: 130,145,855 (GRCm39) |
Q1588* |
probably null |
Het |
| Tmem167 |
C |
T |
13: 90,252,499 (GRCm39) |
R52C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,729,753 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,315,372 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r24 |
C |
T |
6: 123,755,984 (GRCm39) |
Q19* |
probably null |
Het |
| Vps13b |
G |
A |
15: 35,910,450 (GRCm39) |
E3405K |
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,407,024 (GRCm39) |
D1597G |
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 |
|
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'- TCATCAGTTGCTTACAGCCAGC -3'
(R):5'- TTGGCTCCAAAGTATCACAGCC -3'
Sequencing Primer
(F):5'- TTACAGCCAGCTATGCATGG -3'
(R):5'- CCGAAAACACAGCATCAGGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation