Incidental Mutation 'R1398:Lrig3'
| ID |
160246 |
| 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 |
039460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R1398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125838957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 488
(P488L)
|
| 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 benign
Transcript: ENSMUST00000074807
AA Change: P488L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: P488L
| 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: ENSMUST00000220332
|
| Meta Mutation Damage Score |
0.2670 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
96% (75/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,547,511 (GRCm39) |
K288E |
probably damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,147,562 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 89,885,891 (GRCm39) |
T196A |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,044,926 (GRCm39) |
T327S |
possibly damaging |
Het |
| Bdh2 |
T |
C |
3: 135,001,057 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,949,693 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,562,764 (GRCm39) |
V847I |
possibly damaging |
Het |
| Cadps |
G |
T |
14: 12,449,822 (GRCm38) |
T1129K |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,600,721 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,480,285 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,825 (GRCm39) |
|
probably null |
Het |
| Cnot11 |
A |
G |
1: 39,584,261 (GRCm39) |
R478G |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,627,069 (GRCm39) |
S254P |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,020,841 (GRCm39) |
K87* |
probably null |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,559 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,221,393 (GRCm39) |
I694N |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,958,081 (GRCm39) |
I168K |
probably benign |
Het |
| Eif4e |
A |
T |
3: 138,252,136 (GRCm39) |
N25Y |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,430,297 (GRCm39) |
Y69C |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,854,147 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,361,358 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,586 (GRCm38) |
Y92* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,496 (GRCm39) |
S409C |
possibly damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,691,244 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,706 (GRCm39) |
Y231H |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,014,395 (GRCm39) |
H614L |
possibly damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
C |
A |
3: 87,846,061 (GRCm39) |
L325I |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,033,190 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcnk10 |
C |
A |
12: 98,402,485 (GRCm39) |
W318L |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,654 (GRCm39) |
E323G |
possibly damaging |
Het |
| Kif4 |
G |
T |
X: 99,732,703 (GRCm39) |
A492S |
probably benign |
Het |
| Krtap4-1 |
T |
C |
11: 99,518,558 (GRCm39) |
T151A |
unknown |
Het |
| Ldlr |
A |
T |
9: 21,650,838 (GRCm39) |
Q449L |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,322 (GRCm39) |
|
probably benign |
Het |
| Lrrc4b |
A |
C |
7: 44,111,876 (GRCm39) |
I583L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,915,121 (GRCm39) |
S3272P |
possibly damaging |
Het |
| Marchf2 |
T |
C |
17: 33,915,096 (GRCm39) |
H166R |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,440,933 (GRCm39) |
Y373* |
probably null |
Het |
| Myh2 |
C |
T |
11: 67,076,113 (GRCm39) |
H767Y |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,428,889 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,179,658 (GRCm39) |
N1282Y |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,119 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Nrros |
A |
T |
16: 31,961,962 (GRCm39) |
I649N |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,924,691 (GRCm39) |
|
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,994,708 (GRCm39) |
V127E |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,435 (GRCm39) |
V368E |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,882,857 (GRCm39) |
S1674T |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,850,307 (GRCm39) |
V31A |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,697,579 (GRCm39) |
V692E |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,372 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,532,212 (GRCm39) |
I597V |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,658 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,314,930 (GRCm39) |
M1587T |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,512,104 (GRCm39) |
I597F |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,636,268 (GRCm39) |
N650S |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,107,566 (GRCm39) |
S167* |
probably null |
Het |
| Slfn1 |
T |
A |
11: 83,011,968 (GRCm39) |
M28K |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,321,880 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,857 (GRCm39) |
H282R |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,724,422 (GRCm39) |
Q253K |
possibly damaging |
Het |
| Syngr3 |
C |
A |
17: 24,905,414 (GRCm39) |
V161L |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,283,425 (GRCm39) |
S397F |
probably damaging |
Het |
| Uso1 |
C |
T |
5: 92,329,327 (GRCm39) |
A405V |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,715,027 (GRCm39) |
Y190* |
probably null |
Het |
| Vps13d |
A |
T |
4: 144,826,553 (GRCm39) |
L1726Q |
probably null |
Het |
| Vwf |
A |
T |
6: 125,580,420 (GRCm39) |
Q556L |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 8,065,325 (GRCm39) |
M246L |
probably benign |
Het |
| Yipf3 |
T |
C |
17: 46,562,372 (GRCm39) |
F285S |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,476,621 (GRCm39) |
G579R |
probably damaging |
Het |
| Zdhhc18 |
G |
C |
4: 133,354,608 (GRCm39) |
F125L |
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 |
|
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'- CAACATCACACGTTCGGTTTCCTG -3'
(R):5'- TGTATGACATTTCCAGAAGCGGCAC -3'
Sequencing Primer
(F):5'- GGTTTGATTTACGTTTAGAAATCTGC -3'
(R):5'- CTGTAAAACTTTAACAAGCGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation