Incidental Mutation 'R1018:Lrig1'
ID |
96581 |
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 |
039122-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1018 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 94599583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000101126]
[ENSMUST00000204645]
|
AlphaFold |
P70193 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032105
|
SMART Domains |
Protein: ENSMUSP00000032105 Gene: ENSMUSG00000030029
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
|
SMART Domains |
Protein: ENSMUSP00000098686 Gene: ENSMUSG00000030029
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: ENSMUST00000141014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150811
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204645
|
SMART Domains |
Protein: ENSMUSP00000144963 Gene: ENSMUSG00000030029
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: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
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 |
Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
Ankrd36 |
C |
T |
11: 5,596,876 (GRCm39) |
|
probably benign |
Het |
Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
Cnn2 |
T |
C |
10: 79,829,397 (GRCm39) |
C176R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,228,126 (GRCm39) |
Q552L |
probably benign |
Het |
Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,589,589 (GRCm39) |
C601F |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
Stam |
T |
C |
2: 14,122,185 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATCCTGCAATAGGCACCACTG -3'
(R):5'- TGTGGCATGAGACACAACTGAAGAC -3'
Sequencing Primer
(F):5'- CTGCTCAGTAAAGGAAGGATTTAAC -3'
(R):5'- ACATAGCTGCTCAGTGGTGAC -3'
|
Posted On |
2014-01-05 |