Incidental Mutation 'R8384:Lnx2'
| ID |
647074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnx2
|
| Ensembl Gene |
ENSMUSG00000016520 |
| Gene Name |
ligand of numb-protein X 2 |
| Synonyms |
|
| MMRRC Submission |
067750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146953465-147013385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146966138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 327
(A327V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016664]
|
| AlphaFold |
Q91XL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016664
AA Change: A327V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: A327V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
51 |
88 |
2.06e-6 |
SMART |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
PDZ
|
242 |
317 |
2.25e-17 |
SMART |
|
PDZ
|
348 |
421 |
2.97e-17 |
SMART |
|
PDZ
|
474 |
553 |
7.37e-13 |
SMART |
|
PDZ
|
606 |
683 |
1.27e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,057,591 (GRCm39) |
D736G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Col6a6 |
C |
T |
9: 105,632,893 (GRCm39) |
G1457D |
probably damaging |
Het |
| Colec11 |
A |
T |
12: 28,644,658 (GRCm39) |
*279R |
probably null |
Het |
| Ctnnbl1 |
A |
T |
2: 157,659,980 (GRCm39) |
E278V |
probably benign |
Het |
| Cyp24a1 |
A |
G |
2: 170,328,689 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
T |
5: 27,923,472 (GRCm39) |
Y694F |
probably benign |
Het |
| Eif5 |
A |
G |
12: 111,506,239 (GRCm39) |
E26G |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,362,306 (GRCm39) |
I305V |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,842,967 (GRCm39) |
F347S |
possibly damaging |
Het |
| Hacl1 |
A |
G |
14: 31,356,154 (GRCm39) |
|
probably null |
Het |
| Hells |
A |
G |
19: 38,947,566 (GRCm39) |
T667A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,829,305 (GRCm39) |
T416A |
possibly damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Macir |
A |
G |
1: 97,573,655 (GRCm39) |
C137R |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,680 (GRCm39) |
V5220A |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,297,775 (GRCm39) |
C264* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,249,613 (GRCm39) |
L644P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,875,273 (GRCm39) |
Y1533C |
probably damaging |
Het |
| Naa38 |
A |
G |
11: 69,286,752 (GRCm39) |
E12G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,935 (GRCm39) |
C2064F |
probably damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,465 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or6c6 |
A |
T |
10: 129,186,695 (GRCm39) |
K88* |
probably null |
Het |
| Pam16l |
A |
T |
10: 43,400,347 (GRCm39) |
I34F |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,437,182 (GRCm39) |
A534S |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,046,158 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
T |
C |
1: 107,199,697 (GRCm39) |
T275A |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,823,984 (GRCm39) |
V251A |
probably damaging |
Het |
| Snx14 |
C |
A |
9: 88,285,333 (GRCm39) |
E444* |
probably null |
Het |
| Sspo |
G |
T |
6: 48,459,598 (GRCm39) |
W3319L |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,924 (GRCm39) |
V81A |
probably benign |
Het |
| Usp6nl |
A |
G |
2: 6,432,604 (GRCm39) |
I326V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,210,526 (GRCm39) |
K214E |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,956,747 (GRCm39) |
H1785N |
probably benign |
Het |
|
| Other mutations in Lnx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02593:Lnx2
|
APN |
5 |
146,969,825 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02657:Lnx2
|
APN |
5 |
146,964,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Lnx2
|
APN |
5 |
146,978,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0051:Lnx2
|
UTSW |
5 |
146,966,163 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0389:Lnx2
|
UTSW |
5 |
146,955,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0482:Lnx2
|
UTSW |
5 |
146,955,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1601:Lnx2
|
UTSW |
5 |
146,970,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1604:Lnx2
|
UTSW |
5 |
146,966,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1647:Lnx2
|
UTSW |
5 |
146,964,152 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3001:Lnx2
|
UTSW |
5 |
146,955,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3002:Lnx2
|
UTSW |
5 |
146,955,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4734:Lnx2
|
UTSW |
5 |
146,965,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Lnx2
|
UTSW |
5 |
146,955,850 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5387:Lnx2
|
UTSW |
5 |
146,964,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5689:Lnx2
|
UTSW |
5 |
146,965,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Lnx2
|
UTSW |
5 |
146,961,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6161:Lnx2
|
UTSW |
5 |
146,978,836 (GRCm39) |
splice site |
probably null |
|
|
R6623:Lnx2
|
UTSW |
5 |
146,961,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Lnx2
|
UTSW |
5 |
146,956,988 (GRCm39) |
splice site |
probably null |
|
|
R7320:Lnx2
|
UTSW |
5 |
146,956,943 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7701:Lnx2
|
UTSW |
5 |
146,961,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Lnx2
|
UTSW |
5 |
146,955,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Lnx2
|
UTSW |
5 |
146,964,906 (GRCm39) |
missense |
probably benign |
|
|
R8267:Lnx2
|
UTSW |
5 |
146,965,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Lnx2
|
UTSW |
5 |
146,961,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8446:Lnx2
|
UTSW |
5 |
146,970,169 (GRCm39) |
missense |
probably benign |
|
|
R8971:Lnx2
|
UTSW |
5 |
146,970,236 (GRCm39) |
missense |
probably benign |
|
|
R9378:Lnx2
|
UTSW |
5 |
146,961,180 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9468:Lnx2
|
UTSW |
5 |
146,979,289 (GRCm39) |
start gained |
probably benign |
|
|
R9711:Lnx2
|
UTSW |
5 |
146,961,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGCTGTTGAGCCTGCC -3'
(R):5'- TTCCTTTGGAGATGTCATCTGGAC -3'
Sequencing Primer
(F):5'- TTGAGCCTGCCGTCCTGTG -3'
(R):5'- GTCATCTGGACATTTCTGCAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation