Incidental Mutation 'R3002:Lrig1'
ID |
477304 |
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 |
040531-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3002 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94585758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 810
(S810L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000061118]
[ENSMUST00000101126]
[ENSMUST00000204235]
[ENSMUST00000204645]
[ENSMUST00000204764]
|
AlphaFold |
P70193 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032105
AA Change: S810L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000032105 Gene: ENSMUSG00000030029 AA Change: S810L
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: ENSMUST00000061118
|
SMART Domains |
Protein: ENSMUSP00000058028 Gene: ENSMUSG00000045100
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
2 |
82 |
7e-14 |
PFAM |
Pfam:Mito_carr
|
84 |
173 |
4e-16 |
PFAM |
Pfam:Mito_carr
|
176 |
269 |
2.8e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101126
AA Change: S810L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098686 Gene: ENSMUSG00000030029 AA Change: S810L
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 benign
Transcript: ENSMUST00000204235
|
SMART Domains |
Protein: ENSMUSP00000145328 Gene: ENSMUSG00000045100
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
2 |
43 |
2.7e-7 |
PFAM |
Pfam:Mito_carr
|
38 |
82 |
8.2e-6 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204645
AA Change: S810L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144963 Gene: ENSMUSG00000030029 AA Change: S810L
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: ENSMUST00000204764
|
SMART Domains |
Protein: ENSMUSP00000144816 Gene: ENSMUSG00000045100
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
2 |
44 |
1e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205173
|
Meta Mutation Damage Score |
0.4044 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (41/41) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,973,802 (GRCm39) |
W40R |
possibly damaging |
Het |
A2m |
A |
G |
6: 121,638,406 (GRCm39) |
S873G |
possibly damaging |
Het |
Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
Adcy6 |
T |
C |
15: 98,494,541 (GRCm39) |
T767A |
probably benign |
Het |
Bnip3 |
T |
C |
7: 138,496,430 (GRCm39) |
I93V |
probably benign |
Het |
Casq2 |
A |
G |
3: 102,052,517 (GRCm39) |
D269G |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
Chrd |
T |
G |
16: 20,556,195 (GRCm39) |
Y585* |
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,102,856 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
Dnai2 |
C |
T |
11: 114,641,297 (GRCm39) |
P374L |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,511,134 (GRCm39) |
F1289I |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
Fasn |
T |
C |
11: 120,700,671 (GRCm39) |
D2114G |
probably benign |
Het |
Fbxl17 |
T |
A |
17: 63,532,072 (GRCm39) |
E590D |
probably damaging |
Het |
Flnb |
G |
T |
14: 7,907,162 (GRCm38) |
R1245L |
probably benign |
Het |
Folh1 |
A |
C |
7: 86,372,519 (GRCm39) |
I678M |
probably damaging |
Het |
Frrs1l |
G |
T |
4: 56,990,139 (GRCm39) |
|
probably benign |
Het |
Hal |
G |
A |
10: 93,343,381 (GRCm39) |
A542T |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,910 (GRCm39) |
M252K |
probably damaging |
Het |
Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
Klhdc1 |
T |
A |
12: 69,302,983 (GRCm39) |
V173D |
possibly damaging |
Het |
Knop1 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTC |
7: 118,451,672 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,955,825 (GRCm39) |
V657A |
probably benign |
Het |
Lyst |
A |
T |
13: 13,871,290 (GRCm39) |
M2676L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,195,349 (GRCm39) |
S188T |
probably benign |
Het |
Mrgprb3 |
C |
T |
7: 48,293,232 (GRCm39) |
M106I |
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,468,526 (GRCm39) |
I311T |
probably damaging |
Het |
Ndufa8 |
T |
A |
2: 35,926,571 (GRCm39) |
E155V |
possibly damaging |
Het |
Nr4a1 |
A |
G |
15: 101,168,853 (GRCm39) |
|
probably null |
Het |
Or2a12 |
A |
G |
6: 42,904,888 (GRCm39) |
H241R |
probably damaging |
Het |
Orc3 |
T |
C |
4: 34,571,790 (GRCm39) |
T660A |
probably benign |
Het |
Otub2 |
T |
C |
12: 103,370,536 (GRCm39) |
S273P |
probably damaging |
Het |
Otulinl |
T |
C |
15: 27,664,792 (GRCm39) |
T55A |
probably benign |
Het |
Phf11c |
A |
G |
14: 59,622,289 (GRCm39) |
L241P |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,516,946 (GRCm39) |
I1058N |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,143,996 (GRCm39) |
F359S |
possibly damaging |
Het |
Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,890,000 (GRCm39) |
N73S |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,942,628 (GRCm39) |
V1156E |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,268,976 (GRCm39) |
|
probably null |
Het |
Ptcd1 |
G |
A |
5: 145,096,386 (GRCm39) |
L236F |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,151,579 (GRCm39) |
I208V |
probably benign |
Het |
Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
Sec14l5 |
A |
G |
16: 4,989,746 (GRCm39) |
Y230C |
probably damaging |
Het |
Sele |
G |
T |
1: 163,881,140 (GRCm39) |
G447C |
probably damaging |
Het |
Slc17a1 |
G |
A |
13: 24,062,564 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
A |
T |
11: 69,836,751 (GRCm39) |
Y159* |
probably null |
Het |
Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
Tdrd1 |
C |
A |
19: 56,850,182 (GRCm39) |
Y981* |
probably null |
Het |
Tex15 |
T |
C |
8: 34,064,556 (GRCm39) |
Y1329H |
probably benign |
Het |
Tgif2 |
C |
G |
2: 156,686,114 (GRCm39) |
S2W |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,878,688 (GRCm39) |
M620V |
probably benign |
Het |
Tmeff2 |
C |
T |
1: 51,220,994 (GRCm39) |
A323V |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
C |
4: 3,569,588 (GRCm39) |
L34W |
probably damaging |
Het |
Tmtc4 |
A |
T |
14: 123,170,230 (GRCm39) |
|
probably null |
Het |
Trpm2 |
A |
T |
10: 77,766,368 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
Tyk2 |
C |
A |
9: 21,020,617 (GRCm39) |
R938L |
probably benign |
Het |
Usp33 |
A |
T |
3: 152,063,579 (GRCm39) |
T18S |
probably damaging |
Het |
V1rd19 |
A |
T |
7: 23,703,310 (GRCm39) |
I259F |
probably benign |
Het |
Vmn2r24 |
A |
C |
6: 123,781,231 (GRCm39) |
Q479P |
probably benign |
Het |
Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
Wfdc6a |
C |
T |
2: 164,422,225 (GRCm39) |
V125I |
probably benign |
Het |
Zkscan17 |
A |
G |
11: 59,378,077 (GRCm39) |
C369R |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |