Incidental Mutation 'R0348:Lrig3'
| ID |
36007 |
| 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 |
038555-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R0348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 125849317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 1012
(C1012*)
|
| 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 null
Transcript: ENSMUST00000074807
AA Change: C1012*
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: C1012*
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,871,092 (GRCm39) |
D235A |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
| Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
C |
12: 112,703,240 (GRCm39) |
Y568H |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
| Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
| Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
| Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
| Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
| Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
| Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
| Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
| Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,167,424 (GRCm39) |
Y372H |
probably damaging |
Het |
| Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
| Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
| Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
| Nme3 |
A |
T |
17: 25,115,491 (GRCm39) |
I2F |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
| Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
| Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
| Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
| Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
| Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
| Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
| Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,454,012 (GRCm39) |
L308H |
probably damaging |
Het |
| Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
| Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
| Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
| Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
| Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
| Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
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 |
|
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'- CCGAGGACCGCTTTAATGGATCAC -3'
(R):5'- CGGCTGACAAGCTCAGCTACTAAG -3'
Sequencing Primer
(F):5'- TAATGGATCACTGTGAGTCCAGC -3'
(R):5'- AAGCTCAGCTACTAAGTCATCTCTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation