Incidental Mutation 'R8133:Lrig1'
| ID |
632113 |
| 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 |
067561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
94581510-94677139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94588610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 513
(D513G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032105]
[ENSMUST00000101126]
[ENSMUST00000204645]
|
| AlphaFold |
P70193 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032105
AA Change: D513G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032105
Gene: ENSMUSG00000030029
AA Change: D513G
| 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 |
possibly damaging
Transcript: ENSMUST00000101126
AA Change: D513G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098686
Gene: ENSMUSG00000030029
AA Change: D513G
| 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 |
possibly damaging
Transcript: ENSMUST00000204645
AA Change: D513G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144963
Gene: ENSMUSG00000030029
AA Change: D513G
| 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 |
0.2377 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
| Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,824,309 (GRCm39) |
N1417S |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,705,298 (GRCm39) |
S244T |
probably benign |
Het |
| Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,914,872 (GRCm39) |
E102G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,327,406 (GRCm39) |
S669P |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
| Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
| Jcad |
C |
T |
18: 4,649,384 (GRCm39) |
T85I |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
| Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
| Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
| Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
| Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
| Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
| Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
| Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
| Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
| Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
| Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
| S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
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 |
|
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 |
|
|
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'- TGATGATACACTGGTAGCGGC -3'
(R):5'- ATCTGCCAAGTGAAAGAAGTCTC -3'
Sequencing Primer
(F):5'- TCGTGCCCAAAGGTGAC -3'
(R):5'- ACAGGACAGCCTTCTCTGTTAGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation