Incidental Mutation 'R1451:Lrig3'
| ID |
161680 |
| 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 |
039506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R1451 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125845926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 785
(I785T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000074807
AA Change: I785T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: I785T
| 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 |
0.0635 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
96% (55/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,098,588 (GRCm39) |
E83G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,018,273 (GRCm39) |
S1116P |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,284,322 (GRCm39) |
T296S |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,389,657 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,903,874 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,807,049 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,498,600 (GRCm39) |
Q431L |
probably benign |
Het |
| C1s2 |
A |
T |
6: 124,602,453 (GRCm39) |
I580N |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,213,785 (GRCm39) |
T68I |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,189,327 (GRCm39) |
H162Q |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,527 (GRCm39) |
R116G |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,376 (GRCm39) |
N965K |
probably benign |
Het |
| Cd200r3 |
A |
G |
16: 44,771,910 (GRCm39) |
E58G |
possibly damaging |
Het |
| Cnksr3 |
T |
A |
10: 7,076,830 (GRCm39) |
S121C |
probably null |
Het |
| Cog6 |
T |
C |
3: 52,916,534 (GRCm39) |
M212V |
possibly damaging |
Het |
| Ebna1bp2 |
C |
A |
4: 118,478,269 (GRCm39) |
|
probably null |
Het |
| Epha1 |
C |
A |
6: 42,338,385 (GRCm39) |
M730I |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,582 (GRCm39) |
F167S |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,252,848 (GRCm39) |
E105V |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,030,108 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,881,710 (GRCm39) |
G753V |
probably damaging |
Het |
| Kif23 |
C |
T |
9: 61,832,084 (GRCm39) |
V634M |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,907,264 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,372,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,038,376 (GRCm39) |
|
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,316,590 (GRCm39) |
D491G |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,385,931 (GRCm39) |
S315C |
probably damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,905,878 (GRCm39) |
R24C |
possibly damaging |
Het |
| Neurog2 |
A |
G |
3: 127,427,490 (GRCm39) |
D38G |
possibly damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,877 (GRCm39) |
A156S |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,457 (GRCm39) |
Y56* |
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,358 (GRCm39) |
R139H |
probably benign |
Het |
| Or6b3 |
T |
A |
1: 92,439,517 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Or8g50 |
T |
A |
9: 39,648,612 (GRCm39) |
V167D |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,989 (GRCm39) |
D593V |
probably damaging |
Het |
| Pde2a |
G |
T |
7: 101,071,198 (GRCm39) |
E23* |
probably null |
Het |
| Prex2 |
G |
A |
1: 11,226,483 (GRCm39) |
V749I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,809 (GRCm39) |
Y570C |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,329,007 (GRCm39) |
R1237K |
probably benign |
Het |
| Slc6a1 |
C |
A |
6: 114,284,756 (GRCm39) |
Y87* |
probably null |
Het |
| Snx13 |
G |
A |
12: 35,128,983 (GRCm39) |
A34T |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,226,424 (GRCm39) |
L193P |
probably damaging |
Het |
| Tia1 |
A |
T |
6: 86,407,321 (GRCm39) |
Y277F |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc2l |
T |
C |
8: 123,342,134 (GRCm39) |
F127L |
probably damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,838,663 (GRCm39) |
Q588K |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,747,007 (GRCm39) |
H895L |
probably benign |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,275 (GRCm39) |
C155* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,945,933 (GRCm39) |
D558V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,228 (GRCm39) |
T860A |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,565,628 (GRCm39) |
N522S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,804,643 (GRCm39) |
F354S |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,021,984 (GRCm39) |
|
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 |
|
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'- AAGATGACAGCCCTTTGGTGGTG -3'
(R):5'- AGCAGCGAATGTCTGTGAAACCC -3'
Sequencing Primer
(F):5'- GACCGAGAGGCACTTTTTTGC -3'
(R):5'- TGTCTGTGAAACCCACCGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation