Incidental Mutation 'R6292:Lrig1'
ID |
508494 |
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 |
044461-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6292 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94593426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 418
(N418K)
|
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: N418K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032105 Gene: ENSMUSG00000030029 AA Change: N418K
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: N418K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098686 Gene: ENSMUSG00000030029 AA Change: N418K
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: ENSMUST00000204645
AA Change: N418K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144963 Gene: ENSMUSG00000030029 AA Change: N418K
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
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 |
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'- TAAGTCCCATCCGGCATTTTGC -3'
(R):5'- TCTGTGTGCTTGCAACAACAG -3'
Sequencing Primer
(F):5'- CCGGCATTTTGCTTTTAAAGAC -3'
(R):5'- AGGAGAACCGAGAGCCTCTC -3'
|
Posted On |
2018-03-15 |