Incidental Mutation 'R6889:Lrig1'
| ID |
537101 |
| 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 |
044983-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94602044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 270
(Y270H)
|
| 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: Y270H
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: Y270H
| 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: Y270H
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: Y270H
| 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: Y270H
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: Y270H
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
T |
A |
2: 14,990,826 (GRCm39) |
V636E |
possibly damaging |
Het |
| Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
| Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
| Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
| Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
| Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,094 (GRCm39) |
F408S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
| Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
| Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
| Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
| Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
| Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
| Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
| Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
| Qars1 |
A |
G |
9: 108,390,382 (GRCm39) |
T428A |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,951,960 (GRCm39) |
L1157Q |
probably damaging |
Het |
| Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
| Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
| Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,834 (GRCm39) |
E198G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
| Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
| Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
possibly 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 |
|
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'- GGCTTCACTTCCCAAGGTAC -3'
(R):5'- CATCAGTACAAATGAGGGGTTAGTATG -3'
Sequencing Primer
(F):5'- AGGTACTTCACTGCCCACTG -3'
(R):5'- ACAAATGAGGGGTTAGTATGTTTCTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation