Incidental Mutation 'R4095:Lrig1'
ID |
317846 |
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 |
040858-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4095 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94590559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 487
(D487G)
|
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: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000032105 Gene: ENSMUSG00000030029 AA Change: D487G
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: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000098686 Gene: ENSMUSG00000030029 AA Change: D487G
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: D487G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144963 Gene: ENSMUSG00000030029 AA Change: D487G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
A |
T |
12: 53,186,245 (GRCm39) |
I1220L |
probably damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Apba1 |
A |
T |
19: 23,921,388 (GRCm39) |
Q737L |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,220,327 (GRCm39) |
D564E |
probably damaging |
Het |
Bcl11b |
G |
T |
12: 107,883,094 (GRCm39) |
P335Q |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,092,918 (GRCm39) |
V302I |
probably benign |
Het |
Brinp3 |
C |
A |
1: 146,777,430 (GRCm39) |
H626N |
possibly damaging |
Het |
C1qc |
T |
C |
4: 136,617,637 (GRCm39) |
N153S |
probably benign |
Het |
Casp3 |
G |
A |
8: 47,087,251 (GRCm39) |
G66D |
probably damaging |
Het |
Coq7 |
T |
G |
7: 118,126,701 (GRCm39) |
|
probably null |
Het |
Dach1 |
C |
T |
14: 98,138,815 (GRCm39) |
V491M |
possibly damaging |
Het |
Dda1 |
A |
G |
8: 71,926,436 (GRCm39) |
T52A |
possibly damaging |
Het |
Entpd7 |
A |
G |
19: 43,692,640 (GRCm39) |
Y65C |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 52,991,535 (GRCm39) |
D350G |
probably damaging |
Het |
Foxn3 |
G |
T |
12: 99,162,700 (GRCm39) |
D400E |
probably damaging |
Het |
Gbp2 |
A |
G |
3: 142,343,210 (GRCm39) |
T576A |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,088,590 (GRCm39) |
|
probably null |
Het |
Gtf2a1 |
G |
T |
12: 91,542,411 (GRCm39) |
T57K |
possibly damaging |
Het |
Hps5 |
T |
C |
7: 46,425,218 (GRCm39) |
E494G |
probably benign |
Het |
Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
Hydin |
A |
G |
8: 111,268,179 (GRCm39) |
N2886S |
probably damaging |
Het |
Ighv2-6-8 |
T |
C |
12: 113,759,773 (GRCm39) |
Y112C |
probably damaging |
Het |
Kcnf1 |
A |
T |
12: 17,225,480 (GRCm39) |
L247Q |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,516,938 (GRCm39) |
M1606V |
possibly damaging |
Het |
Krt27 |
T |
C |
11: 99,236,619 (GRCm39) |
T431A |
probably benign |
Het |
Lama4 |
A |
T |
10: 38,973,118 (GRCm39) |
I1562F |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 41,339,203 (GRCm39) |
T880I |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
Mapt |
T |
C |
11: 104,201,362 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,302,060 (GRCm39) |
V229D |
possibly damaging |
Het |
Or10am5 |
T |
A |
7: 6,518,252 (GRCm39) |
S59C |
possibly damaging |
Het |
Or6e1 |
T |
C |
14: 54,520,188 (GRCm39) |
T55A |
probably benign |
Het |
Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,039 (GRCm39) |
S136P |
probably benign |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,003 (GRCm39) |
S331R |
probably benign |
Het |
Pdxk |
T |
C |
10: 78,300,644 (GRCm39) |
H13R |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
Rell1 |
C |
A |
5: 64,126,013 (GRCm39) |
V22L |
probably benign |
Het |
Sema6c |
T |
A |
3: 95,080,505 (GRCm39) |
L901Q |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,489,189 (GRCm39) |
L116P |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,596,925 (GRCm39) |
|
probably benign |
Het |
Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,134,749 (GRCm39) |
Y427* |
probably null |
Het |
Tmem74 |
G |
A |
15: 43,730,678 (GRCm39) |
Q122* |
probably null |
Het |
Tnpo2 |
T |
A |
8: 85,765,048 (GRCm39) |
L10Q |
probably damaging |
Het |
Trav6-2 |
G |
T |
14: 52,905,272 (GRCm39) |
A98S |
probably benign |
Het |
Ttll5 |
A |
T |
12: 86,003,376 (GRCm39) |
R214* |
probably null |
Het |
Ube2b |
A |
C |
11: 51,888,654 (GRCm39) |
V39G |
possibly damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,087 (GRCm39) |
T1459I |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,963,099 (GRCm39) |
K754R |
probably damaging |
Het |
Zfp605 |
A |
G |
5: 110,275,602 (GRCm39) |
K240R |
probably damaging |
Het |
Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
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 |
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'- CACTGTGCAGTAAATACATGTGG -3'
(R):5'- TGTTTTGCAAAGAACCCTTCC -3'
Sequencing Primer
(F):5'- GCAGTAAATACATGTGGTTTCCG -3'
(R):5'- TGCAAAGAACCCTTCCTTATGG -3'
|
Posted On |
2015-05-15 |