Incidental Mutation 'R9295:Lrig3'
| ID |
704561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrig3
|
| Ensembl Gene |
ENSMUSG00000020105 |
| Gene Name |
leucine-rich repeats and immunoglobulin-like domains 3 |
| Synonyms |
9430095K15Rik, 9030421L11Rik, 9130004I02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R9295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
125802088-125851228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 125850722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 1096
(C1096F)
|
| 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: C1096F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074360
Gene: ENSMUSG00000020105
AA Change: C1096F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,116 (GRCm39) |
V7E |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,399,938 (GRCm39) |
V156A |
probably benign |
Het |
| Ankrd6 |
A |
T |
4: 32,822,160 (GRCm39) |
V236E |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,081,734 (GRCm39) |
D1125E |
|
Het |
| Cacna2d2 |
A |
G |
9: 107,386,419 (GRCm39) |
E182G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,212,430 (GRCm39) |
K139E |
probably benign |
Het |
| Cd96 |
G |
T |
16: 45,938,244 (GRCm39) |
Q74K |
probably benign |
Het |
| Cdk5rap1 |
A |
T |
2: 154,194,186 (GRCm39) |
I373N |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,738,051 (GRCm39) |
Y2597* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,290,883 (GRCm39) |
G919E |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,957,734 (GRCm39) |
A30V |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,823 (GRCm39) |
C655R |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,428,441 (GRCm39) |
V605E |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,811,599 (GRCm39) |
I600T |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,673 (GRCm39) |
V656L |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,348 (GRCm39) |
M3970K |
probably benign |
Het |
| Ercc5 |
G |
T |
1: 44,198,017 (GRCm39) |
V145F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,979 (GRCm39) |
T127A |
possibly damaging |
Het |
| Fcer1a |
T |
C |
1: 173,050,174 (GRCm39) |
Y172C |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,044,217 (GRCm39) |
M167T |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,743 (GRCm39) |
H530R |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,764,996 (GRCm39) |
V1052L |
probably damaging |
Het |
| Gm4491 |
A |
C |
14: 57,351,140 (GRCm39) |
F84C |
unknown |
Het |
| Irf2bp1 |
C |
T |
7: 18,739,740 (GRCm39) |
T460I |
probably benign |
Het |
| Klf3 |
A |
G |
5: 64,980,240 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Krt80 |
T |
C |
15: 101,249,652 (GRCm39) |
E287G |
probably benign |
Het |
| Lama4 |
G |
T |
10: 38,948,747 (GRCm39) |
V837F |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,719,258 (GRCm39) |
R328G |
possibly damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
T |
1: 75,476,721 (GRCm39) |
D744E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x13 |
G |
A |
2: 90,231,441 (GRCm39) |
M145I |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,478 (GRCm39) |
T21A |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,752 (GRCm39) |
G1003D |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,904,893 (GRCm39) |
T514A |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,482,231 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,298,704 (GRCm39) |
T216A |
possibly damaging |
Het |
| Pxmp2 |
C |
A |
5: 110,433,944 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,209,209 (GRCm39) |
L1123P |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,416,382 (GRCm39) |
S563P |
probably damaging |
Het |
| Secisbp2 |
T |
G |
13: 51,808,483 (GRCm39) |
S83A |
probably damaging |
Het |
| Sema3c |
T |
A |
5: 17,932,495 (GRCm39) |
M666K |
probably benign |
Het |
| Serbp1 |
G |
T |
6: 67,248,208 (GRCm39) |
D114Y |
probably damaging |
Het |
| Sh3d21 |
T |
A |
4: 126,045,276 (GRCm39) |
T468S |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,098,478 (GRCm39) |
D1319E |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,051,386 (GRCm39) |
R502G |
unknown |
Het |
| Slc25a12 |
C |
A |
2: 71,128,986 (GRCm39) |
G314C |
possibly damaging |
Het |
| Smg8 |
A |
G |
11: 86,968,789 (GRCm39) |
V989A |
probably benign |
Het |
| Spon2 |
G |
A |
5: 33,373,844 (GRCm39) |
P156S |
probably damaging |
Het |
| Stx1a |
A |
G |
5: 135,066,370 (GRCm39) |
N50S |
probably benign |
Het |
| Tmem151b |
C |
A |
17: 45,857,806 (GRCm39) |
V147L |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,990,391 (GRCm39) |
G362D |
unknown |
Het |
| Tsr1 |
T |
C |
11: 74,799,135 (GRCm39) |
V772A |
probably damaging |
Het |
| Tti2 |
A |
T |
8: 31,643,550 (GRCm39) |
K222* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,218 (GRCm39) |
M294T |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,484 (GRCm39) |
E450G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,785,955 (GRCm39) |
F253I |
probably benign |
Het |
| Wnk4 |
A |
T |
11: 101,160,078 (GRCm39) |
D649V |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,394,525 (GRCm39) |
S1040P |
probably benign |
Het |
| Zfp112 |
C |
T |
7: 23,824,805 (GRCm39) |
R262C |
probably benign |
Het |
| Zfp287 |
T |
A |
11: 62,606,115 (GRCm39) |
D264V |
probably benign |
Het |
| Zfp46 |
T |
C |
4: 136,017,876 (GRCm39) |
C237R |
probably damaging |
Het |
| Zfp773 |
C |
T |
7: 7,135,694 (GRCm39) |
E301K |
probably benign |
Het |
| Zswim2 |
A |
C |
2: 83,748,304 (GRCm39) |
V292G |
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 |
|
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 |
|
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'- ACCTTCGGAAAACCTCTGAGG -3'
(R):5'- CCACTCAGAAAAGCGAGTTAAG -3'
Sequencing Primer
(F):5'- TTCGGAAAACCTCTGAGGAGACC -3'
(R):5'- CCTTCTGGTCTATGTGTCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation