Incidental Mutation 'R5903:Lrig3'
ID |
456454 |
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 |
044101-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R5903 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125844347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 604
(S604P)
|
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: S604P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074360 Gene: ENSMUSG00000020105 AA Change: S604P
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 |
0.1902 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
Validation Efficiency |
98% (58/59) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 66,145,661 (GRCm39) |
V150A |
unknown |
Het |
Abraxas1 |
T |
C |
5: 100,965,824 (GRCm39) |
|
probably null |
Het |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Atg2b |
T |
C |
12: 105,605,618 (GRCm39) |
D1449G |
possibly damaging |
Het |
Atg7 |
G |
A |
6: 114,683,254 (GRCm39) |
W439* |
probably null |
Het |
Atp6v0a2 |
T |
A |
5: 124,789,343 (GRCm39) |
I370N |
probably damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,760 (GRCm39) |
D347G |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,790,233 (GRCm39) |
C660Y |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,896,801 (GRCm39) |
Y1390C |
probably damaging |
Het |
Cdcp1 |
G |
A |
9: 123,002,837 (GRCm39) |
Q745* |
probably null |
Het |
Cep97 |
G |
A |
16: 55,739,889 (GRCm39) |
S185L |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,244,020 (GRCm39) |
H43R |
probably damaging |
Het |
Cntn3 |
T |
A |
6: 102,219,094 (GRCm39) |
M509L |
probably benign |
Het |
Cntrob |
A |
C |
11: 69,200,201 (GRCm39) |
S564R |
possibly damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,395,514 (GRCm39) |
N37I |
possibly damaging |
Het |
Edc4 |
A |
G |
8: 106,617,219 (GRCm39) |
T1029A |
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,829,121 (GRCm39) |
V64E |
probably damaging |
Het |
Fmnl1 |
G |
T |
11: 103,062,270 (GRCm39) |
|
probably null |
Het |
Fzd6 |
T |
A |
15: 38,870,783 (GRCm39) |
M1K |
probably null |
Het |
Gle1 |
C |
A |
2: 29,830,293 (GRCm39) |
T283N |
probably benign |
Het |
Hsd17b14 |
T |
C |
7: 45,215,386 (GRCm39) |
V161A |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,380,819 (GRCm39) |
S218P |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,650,020 (GRCm39) |
C736S |
probably damaging |
Het |
Itpkb |
G |
T |
1: 180,241,540 (GRCm39) |
V737L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,466,758 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
G |
T |
17: 53,110,364 (GRCm39) |
V192L |
possibly damaging |
Het |
Kctd10 |
G |
A |
5: 114,518,523 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
C |
A |
6: 71,609,234 (GRCm39) |
|
probably benign |
Het |
Kif5a |
T |
A |
10: 127,066,447 (GRCm39) |
M990L |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,260,124 (GRCm39) |
S202P |
probably damaging |
Het |
Krt81 |
T |
G |
15: 101,358,083 (GRCm39) |
Q390P |
probably damaging |
Het |
Ms4a1 |
A |
T |
19: 11,235,612 (GRCm39) |
V48D |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,100,239 (GRCm39) |
P688L |
probably damaging |
Het |
Oas1h |
T |
C |
5: 121,009,040 (GRCm39) |
V250A |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,521,912 (GRCm39) |
Y277* |
probably null |
Het |
Or52z13 |
G |
T |
7: 103,247,128 (GRCm39) |
G202* |
probably null |
Het |
P2rx3 |
T |
C |
2: 84,831,071 (GRCm39) |
E265G |
possibly damaging |
Het |
Pdzd8 |
A |
G |
19: 59,333,718 (GRCm39) |
I101T |
possibly damaging |
Het |
Psme4 |
A |
T |
11: 30,791,589 (GRCm39) |
N1148I |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,312,195 (GRCm39) |
L874P |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,889,300 (GRCm39) |
Y508C |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,569,305 (GRCm39) |
|
probably benign |
Het |
Slc9b1 |
C |
T |
3: 135,098,655 (GRCm39) |
|
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,573 (GRCm39) |
K78E |
possibly damaging |
Het |
Thsd4 |
T |
A |
9: 60,301,389 (GRCm39) |
N302I |
possibly damaging |
Het |
Trdv5 |
A |
T |
14: 54,386,242 (GRCm39) |
H74Q |
probably benign |
Het |
Tubb4b |
C |
T |
2: 25,113,993 (GRCm39) |
R77H |
probably benign |
Het |
Ugt1a6a |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Unc5a |
T |
A |
13: 55,147,503 (GRCm39) |
C438S |
possibly damaging |
Het |
Zan |
C |
A |
5: 137,440,396 (GRCm39) |
C1946F |
unknown |
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 |
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'- TGTCAACTTCATATCTACGGCTCTG -3'
(R):5'- AGCTGTAAACCCCGATGTCC -3'
Sequencing Primer
(F):5'- TACGGCTCTGACTCTGAGTTAGAAAG -3'
(R):5'- TCGATCTTCACGTCCACGATGAAG -3'
|
Posted On |
2017-02-15 |