Incidental Mutation 'R2273:Lrig1'
| ID |
242640 |
| 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 |
040273-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94585124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 840
(D840E)
|
| 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: D840E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: D840E
| 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: D840E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: D840E
| 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: ENSMUST00000203484
|
| 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: D840E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: D840E
| 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: ENSMUST00000205173
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
T |
A |
8: 11,865,010 (GRCm39) |
F374Y |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,882,762 (GRCm39) |
I606V |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,268,601 (GRCm39) |
E1200K |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,702 (GRCm39) |
S563L |
probably benign |
Het |
| Cfh |
C |
T |
1: 140,030,563 (GRCm39) |
V824M |
probably damaging |
Het |
| Ciapin1 |
A |
T |
8: 95,558,415 (GRCm39) |
V99E |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,662,608 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,558 (GRCm39) |
T4465A |
probably benign |
Het |
| Fdxacb1 |
A |
G |
9: 50,683,321 (GRCm39) |
E428G |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,008,187 (GRCm39) |
M1595T |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,726,393 (GRCm39) |
K684E |
possibly damaging |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,226 (GRCm39) |
N343D |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,892,696 (GRCm39) |
S318P |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,568,592 (GRCm39) |
D1376E |
unknown |
Het |
| Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,330,183 (GRCm39) |
R1264Q |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,421 (GRCm39) |
V100A |
possibly damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,109,873 (GRCm39) |
F324S |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
| Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
| Or5g29 |
G |
T |
2: 85,420,932 (GRCm39) |
G16V |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdhb4 |
C |
T |
18: 37,441,979 (GRCm39) |
L430F |
probably damaging |
Het |
| Ptpn2 |
T |
G |
18: 67,810,872 (GRCm39) |
M256L |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,111,367 (GRCm39) |
R71H |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,295 (GRCm39) |
D148V |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
G |
5: 87,703,887 (GRCm39) |
N266T |
probably damaging |
Het |
| Tjp2 |
G |
T |
19: 24,090,171 (GRCm39) |
H624N |
probably benign |
Het |
| Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,225,415 (GRCm39) |
T859S |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,477,593 (GRCm39) |
M273L |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,856,629 (GRCm39) |
Y570H |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,565 (GRCm39) |
S645G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCTGGTTCACCAAATG -3'
(R):5'- TTGTTCCTCATGGAGCCAGG -3'
Sequencing Primer
(F):5'- ATGTGACCCAGTGCCAGACTTC -3'
(R):5'- GACTGCCGTGATGTTTACACCAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation