Incidental Mutation 'R0183:Lrig3'
| ID |
23898 |
| 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 |
038448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0183 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125846061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 830
(I830K)
|
| 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: I830K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: I830K
| 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 |
0.9304 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
84% (42/50) |
| 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 |
|---|
| Aasdh |
C |
T |
5: 77,034,082 (GRCm39) |
D490N |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,401,251 (GRCm39) |
|
probably null |
Het |
| Amer3 |
T |
A |
1: 34,626,838 (GRCm39) |
I359K |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,684,811 (GRCm39) |
D79E |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,958,172 (GRCm39) |
E1026D |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Card14 |
C |
T |
11: 119,217,524 (GRCm39) |
R386C |
probably damaging |
Het |
| Cenpb |
T |
C |
2: 131,020,373 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
G |
A |
7: 7,298,090 (GRCm39) |
Q40* |
probably null |
Het |
| Clec16a |
T |
C |
16: 10,377,886 (GRCm39) |
Y28H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,790 (GRCm39) |
S393P |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,265,722 (GRCm39) |
D194G |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,059,906 (GRCm39) |
V2841I |
probably damaging |
Het |
| Eaf1 |
T |
A |
14: 31,217,272 (GRCm39) |
L16Q |
probably damaging |
Het |
| Eef1e1 |
C |
T |
13: 38,840,162 (GRCm39) |
A48T |
probably damaging |
Het |
| Exoc3l |
C |
A |
8: 106,021,932 (GRCm39) |
R57L |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,807 (GRCm39) |
N593S |
probably benign |
Het |
| Fosb |
A |
G |
7: 19,041,310 (GRCm39) |
I61T |
probably damaging |
Het |
| Fstl5 |
A |
C |
3: 76,229,579 (GRCm39) |
I127L |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,319,882 (GRCm39) |
M125L |
probably benign |
Het |
| Gcnt1 |
C |
T |
19: 17,306,481 (GRCm39) |
D415N |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,024,997 (GRCm39) |
M531T |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,656,589 (GRCm39) |
K256M |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
| Jkamp |
T |
C |
12: 72,140,809 (GRCm39) |
I118T |
possibly damaging |
Het |
| Kalrn |
A |
T |
16: 33,991,749 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,558,120 (GRCm39) |
D317E |
probably damaging |
Het |
| Lipo2 |
A |
T |
19: 33,726,951 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,454,015 (GRCm39) |
I1429T |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,606 (GRCm39) |
L184F |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,872 (GRCm39) |
T424I |
possibly damaging |
Het |
| Mrps23 |
A |
G |
11: 88,100,980 (GRCm39) |
E57G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,333 (GRCm39) |
T1282A |
probably benign |
Het |
| Or2y10 |
A |
G |
11: 49,455,675 (GRCm39) |
D309G |
probably benign |
Het |
| Or8k1 |
T |
A |
2: 86,047,173 (GRCm39) |
S294C |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,801,214 (GRCm39) |
N75S |
probably damaging |
Het |
| Pink1 |
T |
G |
4: 138,041,490 (GRCm39) |
H477P |
probably damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,169,990 (GRCm39) |
C835Y |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,257,973 (GRCm39) |
I295T |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,664,274 (GRCm39) |
S421P |
probably benign |
Het |
| Ptpn6 |
A |
G |
6: 124,705,914 (GRCm39) |
S77P |
probably damaging |
Het |
| Ptpre |
G |
T |
7: 135,271,574 (GRCm39) |
M389I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,578,599 (GRCm39) |
D158G |
probably damaging |
Het |
| Sec14l3 |
C |
T |
11: 4,025,547 (GRCm39) |
S357L |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,716,445 (GRCm39) |
D323E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,919,186 (GRCm39) |
K396N |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,824,309 (GRCm39) |
V94E |
probably damaging |
Het |
| Trim24 |
T |
A |
6: 37,920,415 (GRCm39) |
I404N |
possibly 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 |
|
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 |
|
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'- AACGTTCGCCTCAGTGTGATCC -3'
(R):5'- GAAGGGCTACTTCACTCTGCTTGG -3'
Sequencing Primer
(F):5'- AGTGTGATCCCTACTCCGAC -3'
(R):5'- CCACCAGGAGTATCCTGATGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation