Incidental Mutation 'IGL01356:Lrig1'
ID |
75530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrig1
|
Ensembl Gene |
ENSMUSG00000030029 |
Gene Name |
leucine-rich repeats and immunoglobulin-like domains 1 |
Synonyms |
LIG-1, Img |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01356
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94586874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 601
(P601S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000101126]
[ENSMUST00000204645]
|
AlphaFold |
P70193 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032105
AA Change: P601S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032105 Gene: ENSMUSG00000030029 AA Change: P601S
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 damaging
Transcript: ENSMUST00000101126
AA Change: P601S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098686 Gene: ENSMUSG00000030029 AA Change: P601S
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 |
noncoding transcript
Transcript: ENSMUST00000183891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203876
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204645
AA Change: P601S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144963 Gene: ENSMUSG00000030029 AA Change: P601S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
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 |
94,631,901 (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 |
|
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 |
|
Posted On |
2013-10-07 |