Incidental Mutation 'R1250:Lingo3'
| ID |
151727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lingo3
|
| Ensembl Gene |
ENSMUSG00000051067 |
| Gene Name |
leucine rich repeat and Ig domain containing 3 |
| Synonyms |
LERN2 |
| MMRRC Submission |
039317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80668635-80679873 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80670605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 442
(T442A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053986]
[ENSMUST00000219924]
|
| AlphaFold |
Q6GQU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053986
AA Change: T442A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000054960
Gene: ENSMUSG00000051067
AA Change: T442A
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
23 |
57 |
1.54e-5 |
SMART |
|
LRR_TYP
|
76 |
99 |
1.38e-3 |
SMART |
|
LRR_TYP
|
100 |
123 |
4.94e-5 |
SMART |
|
LRR
|
124 |
147 |
3.86e0 |
SMART |
|
LRR
|
148 |
171 |
4.98e-1 |
SMART |
|
LRR
|
172 |
195 |
1.62e1 |
SMART |
|
LRR
|
246 |
267 |
3.46e2 |
SMART |
|
LRR
|
269 |
291 |
3.86e0 |
SMART |
|
LRR
|
292 |
315 |
3.24e0 |
SMART |
|
LRR
|
316 |
339 |
4.34e-1 |
SMART |
|
LRRCT
|
351 |
404 |
7.18e-3 |
SMART |
|
IGc2
|
419 |
486 |
3.12e-14 |
SMART |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219924
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aptx |
T |
A |
4: 40,693,447 (GRCm39) |
E162D |
probably benign |
Het |
| Cdhr4 |
A |
T |
9: 107,874,715 (GRCm39) |
Q20L |
probably damaging |
Het |
| Dlk1 |
A |
T |
12: 109,425,744 (GRCm39) |
T206S |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,063,273 (GRCm39) |
L32P |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,922,262 (GRCm39) |
S954T |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,257,648 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
G |
A |
10: 19,986,521 (GRCm39) |
A912T |
possibly damaging |
Het |
| Msantd3 |
C |
A |
4: 48,552,789 (GRCm39) |
P126Q |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,853,887 (GRCm38) |
S358P |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,909 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,784 (GRCm39) |
S365G |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,719,491 (GRCm39) |
T402K |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,054,531 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,904 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,643 (GRCm39) |
V74A |
probably benign |
Het |
| Zkscan3 |
A |
G |
13: 21,572,694 (GRCm39) |
F313L |
probably benign |
Het |
|
| Other mutations in Lingo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Lingo3
|
APN |
10 |
80,671,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Lingo3
|
APN |
10 |
80,671,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Lingo3
|
APN |
10 |
80,671,843 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02938:Lingo3
|
APN |
10 |
80,670,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02945:Lingo3
|
APN |
10 |
80,670,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Lingo3
|
APN |
10 |
80,671,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Lingo3
|
UTSW |
10 |
80,671,618 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0645:Lingo3
|
UTSW |
10 |
80,671,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0673:Lingo3
|
UTSW |
10 |
80,671,618 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1521:Lingo3
|
UTSW |
10 |
80,671,555 (GRCm39) |
missense |
probably benign |
|
|
R1794:Lingo3
|
UTSW |
10 |
80,671,432 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4665:Lingo3
|
UTSW |
10 |
80,671,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Lingo3
|
UTSW |
10 |
80,671,364 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6458:Lingo3
|
UTSW |
10 |
80,671,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Lingo3
|
UTSW |
10 |
80,671,625 (GRCm39) |
missense |
probably benign |
|
|
R7231:Lingo3
|
UTSW |
10 |
80,670,938 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7314:Lingo3
|
UTSW |
10 |
80,670,707 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7390:Lingo3
|
UTSW |
10 |
80,670,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Lingo3
|
UTSW |
10 |
80,670,671 (GRCm39) |
nonsense |
probably null |
|
|
R7650:Lingo3
|
UTSW |
10 |
80,671,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Lingo3
|
UTSW |
10 |
80,670,610 (GRCm39) |
nonsense |
probably null |
|
|
R7920:Lingo3
|
UTSW |
10 |
80,670,382 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8070:Lingo3
|
UTSW |
10 |
80,671,955 (GRCm39) |
start gained |
probably benign |
|
|
R8095:Lingo3
|
UTSW |
10 |
80,671,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8171:Lingo3
|
UTSW |
10 |
80,670,595 (GRCm39) |
missense |
probably benign |
|
|
R8178:Lingo3
|
UTSW |
10 |
80,670,464 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8425:Lingo3
|
UTSW |
10 |
80,670,816 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9053:Lingo3
|
UTSW |
10 |
80,670,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9059:Lingo3
|
UTSW |
10 |
80,670,523 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9706:Lingo3
|
UTSW |
10 |
80,670,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9794:Lingo3
|
UTSW |
10 |
80,670,707 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Lingo3
|
UTSW |
10 |
80,670,689 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCGAAATAAGTGTCGTTACCCC -3'
(R):5'- ATTCCACTCGGTGAACACGCTC -3'
Sequencing Primer
(F):5'- ACACATGTGTAGGTGCCACT -3'
(R):5'- GGAAGACCCTGAACTTCGACG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation