Incidental Mutation 'R4093:Lrig1'
| ID |
317723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrig1
|
| Ensembl Gene |
ENSMUSG00000030029 |
| Gene Name |
leucine-rich repeats and immunoglobulin-like domains 1 |
| Synonyms |
LIG-1, Img |
| MMRRC Submission |
041627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4093 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94590559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 487
(D487G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000101126]
[ENSMUST00000204645]
|
| AlphaFold |
P70193 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032105
AA Change: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: D487G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
42 |
74 |
5.82e-6 |
SMART |
|
LRR
|
68 |
92 |
4.83e0 |
SMART |
|
LRR
|
93 |
115 |
9.96e-1 |
SMART |
|
LRR
|
142 |
163 |
6.22e0 |
SMART |
|
LRR
|
166 |
187 |
1.81e1 |
SMART |
|
LRR
|
190 |
212 |
5.72e0 |
SMART |
|
LRR
|
213 |
235 |
1.06e1 |
SMART |
|
LRR_TYP
|
236 |
259 |
2.79e-4 |
SMART |
|
LRR
|
260 |
283 |
2.54e1 |
SMART |
|
LRR
|
284 |
307 |
9.96e-1 |
SMART |
|
LRR
|
308 |
331 |
4.21e1 |
SMART |
|
LRR_TYP
|
332 |
355 |
8.6e-5 |
SMART |
|
LRR
|
356 |
382 |
1.06e1 |
SMART |
|
LRR
|
383 |
406 |
9.96e-1 |
SMART |
|
LRR_TYP
|
407 |
430 |
3.34e-2 |
SMART |
|
LRRCT
|
442 |
492 |
3.5e-15 |
SMART |
|
IGc2
|
509 |
586 |
1.34e-4 |
SMART |
|
IGc2
|
613 |
681 |
2.87e-13 |
SMART |
|
IGc2
|
707 |
772 |
6.44e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101126
AA Change: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: D487G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
42 |
74 |
5.82e-6 |
SMART |
|
LRR
|
68 |
92 |
4.83e0 |
SMART |
|
LRR
|
93 |
115 |
9.96e-1 |
SMART |
|
LRR
|
142 |
163 |
6.22e0 |
SMART |
|
LRR
|
166 |
187 |
1.81e1 |
SMART |
|
LRR
|
190 |
212 |
5.72e0 |
SMART |
|
LRR
|
213 |
235 |
1.06e1 |
SMART |
|
LRR_TYP
|
236 |
259 |
2.79e-4 |
SMART |
|
LRR
|
260 |
283 |
2.54e1 |
SMART |
|
LRR
|
284 |
307 |
9.96e-1 |
SMART |
|
LRR
|
308 |
331 |
4.21e1 |
SMART |
|
LRR_TYP
|
332 |
355 |
8.6e-5 |
SMART |
|
LRR
|
356 |
382 |
1.06e1 |
SMART |
|
LRR
|
383 |
406 |
9.96e-1 |
SMART |
|
LRR_TYP
|
407 |
430 |
3.34e-2 |
SMART |
|
LRRCT
|
442 |
492 |
3.5e-15 |
SMART |
|
IGc2
|
509 |
586 |
1.34e-4 |
SMART |
|
IGc2
|
613 |
681 |
2.87e-13 |
SMART |
|
IGc2
|
707 |
772 |
6.44e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204645
AA Change: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: D487G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
LRRNT
|
42 |
74 |
5.82e-6 |
SMART |
|
LRR
|
68 |
92 |
4.83e0 |
SMART |
|
LRR
|
93 |
115 |
9.96e-1 |
SMART |
|
LRR
|
142 |
163 |
6.22e0 |
SMART |
|
LRR
|
166 |
187 |
1.81e1 |
SMART |
|
LRR
|
190 |
212 |
5.72e0 |
SMART |
|
LRR
|
213 |
235 |
1.06e1 |
SMART |
|
LRR_TYP
|
236 |
259 |
2.79e-4 |
SMART |
|
LRR
|
260 |
283 |
2.54e1 |
SMART |
|
LRR
|
284 |
307 |
9.96e-1 |
SMART |
|
LRR
|
308 |
331 |
4.21e1 |
SMART |
|
LRR_TYP
|
332 |
355 |
8.6e-5 |
SMART |
|
LRR
|
356 |
382 |
1.06e1 |
SMART |
|
LRR
|
383 |
406 |
9.96e-1 |
SMART |
|
LRR_TYP
|
407 |
430 |
3.34e-2 |
SMART |
|
LRRCT
|
442 |
492 |
3.5e-15 |
SMART |
|
IGc2
|
509 |
586 |
1.34e-4 |
SMART |
|
IGc2
|
613 |
681 |
2.87e-13 |
SMART |
|
IGc2
|
707 |
772 |
6.44e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (69/75) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice developed psoriasiform epidermal hyperplasia. Homozygotes exhibit hair follicle, epidermis, vertebral, eye and hearing abnormalities, decreased body size and fat amount, and increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted(4) Gene trapped(1)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
| Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
| Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
| Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
| Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
| Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
| Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
| Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
| Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
| Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
| Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
| Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
| Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
| Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
| Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
| Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
| Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
|
| Other mutations in Lrig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00474:Lrig1
|
APN |
6 |
94,588,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01356:Lrig1
|
APN |
6 |
94,586,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01356:Lrig1
|
APN |
6 |
94,631,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02001:Lrig1
|
APN |
6 |
94,584,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Lrig1
|
APN |
6 |
94,593,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02177:Lrig1
|
APN |
6 |
94,640,977 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02274:Lrig1
|
APN |
6 |
94,640,919 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03197:Lrig1
|
APN |
6 |
94,583,099 (GRCm39) |
missense |
probably benign |
|
|
IGL03263:Lrig1
|
APN |
6 |
94,588,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03327:Lrig1
|
APN |
6 |
94,583,104 (GRCm39) |
missense |
probably benign |
0.10 |
|
N/A - 293:Lrig1
|
UTSW |
6 |
94,586,068 (GRCm39) |
missense |
probably benign |
|
|
R0019:Lrig1
|
UTSW |
6 |
94,584,330 (GRCm39) |
nonsense |
probably null |
|
|
R0019:Lrig1
|
UTSW |
6 |
94,584,330 (GRCm39) |
nonsense |
probably null |
|
|
R0961:Lrig1
|
UTSW |
6 |
94,640,895 (GRCm39) |
splice site |
probably benign |
|
|
R1018:Lrig1
|
UTSW |
6 |
94,599,583 (GRCm39) |
splice site |
probably benign |
|
|
R1381:Lrig1
|
UTSW |
6 |
94,583,111 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1473:Lrig1
|
UTSW |
6 |
94,584,294 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1498:Lrig1
|
UTSW |
6 |
94,604,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1888:Lrig1
|
UTSW |
6 |
94,631,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1888:Lrig1
|
UTSW |
6 |
94,631,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2273:Lrig1
|
UTSW |
6 |
94,585,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Lrig1
|
UTSW |
6 |
94,594,347 (GRCm39) |
splice site |
probably null |
|
|
R3001:Lrig1
|
UTSW |
6 |
94,585,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Lrig1
|
UTSW |
6 |
94,585,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Lrig1
|
UTSW |
6 |
94,588,557 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3732:Lrig1
|
UTSW |
6 |
94,588,557 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3733:Lrig1
|
UTSW |
6 |
94,588,557 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3772:Lrig1
|
UTSW |
6 |
94,582,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4089:Lrig1
|
UTSW |
6 |
94,586,840 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4095:Lrig1
|
UTSW |
6 |
94,590,559 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4225:Lrig1
|
UTSW |
6 |
94,599,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Lrig1
|
UTSW |
6 |
94,586,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Lrig1
|
UTSW |
6 |
94,640,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Lrig1
|
UTSW |
6 |
94,602,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Lrig1
|
UTSW |
6 |
94,588,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Lrig1
|
UTSW |
6 |
94,605,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5732:Lrig1
|
UTSW |
6 |
94,676,520 (GRCm39) |
nonsense |
probably null |
|
|
R5988:Lrig1
|
UTSW |
6 |
94,605,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6064:Lrig1
|
UTSW |
6 |
94,603,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Lrig1
|
UTSW |
6 |
94,593,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Lrig1
|
UTSW |
6 |
94,603,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Lrig1
|
UTSW |
6 |
94,602,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Lrig1
|
UTSW |
6 |
94,602,044 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6995:Lrig1
|
UTSW |
6 |
94,588,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7404:Lrig1
|
UTSW |
6 |
94,603,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Lrig1
|
UTSW |
6 |
94,583,099 (GRCm39) |
missense |
probably benign |
|
|
R7732:Lrig1
|
UTSW |
6 |
94,603,358 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7915:Lrig1
|
UTSW |
6 |
94,607,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8133:Lrig1
|
UTSW |
6 |
94,588,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8768:Lrig1
|
UTSW |
6 |
94,631,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9045:Lrig1
|
UTSW |
6 |
94,585,688 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9227:Lrig1
|
UTSW |
6 |
94,607,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrig1
|
UTSW |
6 |
94,586,007 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGTGCAGTAAATACATGTG -3'
(R):5'- TGTTTTGCAAAGAACCCTTCC -3'
Sequencing Primer
(F):5'- GCAGTAAATACATGTGGTTTCCG -3'
(R):5'- TGCAAAGAACCCTTCCTTATGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation