Incidental Mutation 'R7732:Lrig1'
| ID |
595901 |
| 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 |
045788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94603358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 263
(M263I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000101126]
[ENSMUST00000204645]
|
| AlphaFold |
P70193 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032105
AA Change: M263I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: M263I
| 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: M263I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: M263I
| 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: M263I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: M263I
| 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 |
0.0922 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,075,451 (GRCm39) |
S121T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,041 (GRCm39) |
M69V |
|
Het |
| Ap3m2 |
G |
T |
8: 23,287,105 (GRCm39) |
D192E |
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,974,663 (GRCm39) |
V493A |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,230,869 (GRCm39) |
H140R |
probably benign |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Brd4 |
C |
A |
17: 32,440,386 (GRCm39) |
A318S |
unknown |
Het |
| Cabp4 |
T |
A |
19: 4,185,994 (GRCm39) |
T270S |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,569,482 (GRCm39) |
R545C |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,755 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
A |
8: 110,756,514 (GRCm39) |
Q450* |
probably null |
Het |
| Ctsc |
G |
A |
7: 87,946,367 (GRCm39) |
R132Q |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,769 (GRCm39) |
D470G |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,579,506 (GRCm39) |
G689D |
probably benign |
Het |
| Disc1 |
G |
T |
8: 125,977,714 (GRCm39) |
G779* |
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,699 (GRCm39) |
D210E |
probably benign |
Het |
| Dynlt1a |
A |
G |
17: 6,365,220 (GRCm39) |
V14A |
probably benign |
Het |
| Dynlt2a3 |
A |
G |
17: 15,187,947 (GRCm39) |
V109A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,092 (GRCm39) |
D779G |
|
Het |
| Eprs1 |
A |
G |
1: 185,105,136 (GRCm39) |
H137R |
probably benign |
Het |
| Eps15l1 |
A |
C |
8: 73,134,820 (GRCm39) |
L447R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,357,694 (GRCm39) |
|
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,563 (GRCm39) |
K43E |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,062,400 (GRCm39) |
S309G |
possibly damaging |
Het |
| Fbxo48 |
T |
A |
11: 16,903,601 (GRCm39) |
W76R |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,302,459 (GRCm39) |
V32A |
probably benign |
Het |
| Foxe1 |
A |
T |
4: 46,345,287 (GRCm39) |
D365V |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,470,075 (GRCm39) |
R378H |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,723,864 (GRCm39) |
S1862P |
probably damaging |
Het |
| H2al2b |
T |
C |
Y: 2,720,436 (GRCm39) |
H80R |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,474,692 (GRCm39) |
V2771A |
probably benign |
Het |
| Hoxa11 |
A |
T |
6: 52,220,415 (GRCm39) |
F289L |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,852 (GRCm39) |
V412A |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,160 (GRCm39) |
Q77R |
probably damaging |
Het |
| Ms4a14 |
C |
T |
19: 11,279,047 (GRCm39) |
M1170I |
probably benign |
Het |
| Ndufs7 |
G |
A |
10: 80,089,618 (GRCm39) |
|
probably null |
Het |
| Nectin4 |
A |
T |
1: 171,214,246 (GRCm39) |
E467V |
probably benign |
Het |
| Or8d1b |
A |
G |
9: 38,887,560 (GRCm39) |
E196G |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,642,525 (GRCm39) |
H1302Y |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,466,841 (GRCm39) |
S241G |
probably benign |
Het |
| Pip4p1 |
C |
T |
14: 51,168,090 (GRCm39) |
G48D |
possibly damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,843 (GRCm39) |
V183D |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,388,205 (GRCm39) |
E455V |
probably damaging |
Het |
| Ptpn4 |
A |
C |
1: 119,620,532 (GRCm39) |
V488G |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,499,723 (GRCm39) |
I502T |
probably benign |
Het |
| Raph1 |
T |
A |
1: 60,572,447 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,152,590 (GRCm39) |
S33N |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,082 (GRCm39) |
N158S |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,600,448 (GRCm39) |
V298D |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,414,196 (GRCm39) |
H637L |
probably benign |
Het |
| Sh3rf2 |
G |
T |
18: 42,234,753 (GRCm39) |
V179L |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,472 (GRCm39) |
T129A |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,592,847 (GRCm39) |
Y1202F |
probably benign |
Het |
| Spsb2 |
T |
C |
6: 124,786,656 (GRCm39) |
S130P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,913,013 (GRCm39) |
D749G |
probably benign |
Het |
| Taok3 |
A |
G |
5: 117,331,813 (GRCm39) |
E10G |
possibly damaging |
Het |
| Tbl3 |
G |
T |
17: 24,923,136 (GRCm39) |
A368D |
probably benign |
Het |
| Tdh |
T |
A |
14: 63,733,507 (GRCm39) |
H127L |
probably damaging |
Het |
| Tmem205 |
C |
A |
9: 21,838,703 (GRCm39) |
|
probably null |
Het |
| Tmem30a |
A |
C |
9: 79,687,826 (GRCm39) |
F114L |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,800,308 (GRCm39) |
K607E |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,913,254 (GRCm39) |
D1756V |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,623,969 (GRCm39) |
F312L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,656,793 (GRCm39) |
P12494L |
probably null |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,097 (GRCm39) |
R237G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,847,798 (GRCm39) |
N2187Y |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,617,495 (GRCm39) |
T692A |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,221,172 (GRCm39) |
N35D |
probably damaging |
Het |
| Wnt2 |
T |
C |
6: 18,023,335 (GRCm39) |
S105G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,952 (GRCm39) |
H514Q |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,884,589 (GRCm39) |
K888E |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,154,479 (GRCm39) |
Y577H |
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 |
|
R4093:Lrig1
|
UTSW |
6 |
94,590,559 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
|
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'- AATCACTCTGCAGTCTTGGG -3'
(R):5'- GATGTGCACAAGGGATGCTC -3'
Sequencing Primer
(F):5'- AGGCCCAGCAGACTAGTG -3'
(R):5'- TGCACAAGGGATGCTCTGACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation