Incidental Mutation 'R1278:Lix1'
| ID |
150959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lix1
|
| Ensembl Gene |
ENSMUSG00000047786 |
| Gene Name |
limb and CNS expressed 1 |
| Synonyms |
5730466L18Rik |
| MMRRC Submission |
039344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
17622948-17679649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17647469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 45
(K45R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115576]
|
| AlphaFold |
Q6P566 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115576
AA Change: K45R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111239
Gene: ENSMUSG00000047786
AA Change: K45R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIX1
|
10 |
258 |
1.2e-131 |
PFAM |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A gene trap allele that eliminates the full length transcript, but permits expression of a rodent-specific shorter transcript, results in mice with no overt mutant phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,535,470 (GRCm39) |
S747P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,258,572 (GRCm39) |
Y1063H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,660 (GRCm39) |
S320P |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,580,095 (GRCm39) |
A622V |
possibly damaging |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,292 (GRCm39) |
V1800A |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,077,015 (GRCm39) |
N276S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,159,005 (GRCm39) |
E3389G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,886 (GRCm39) |
D247G |
probably damaging |
Het |
| Kif20a |
C |
T |
18: 34,759,830 (GRCm39) |
T75I |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,573,122 (GRCm39) |
T626A |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Mark4 |
T |
A |
7: 19,165,695 (GRCm39) |
S533C |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,306,067 (GRCm39) |
V1104D |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,870 (GRCm39) |
D551G |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,340 (GRCm39) |
P58T |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 119,998,951 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 100,299,075 (GRCm39) |
F816S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
G |
T |
13: 51,808,546 (GRCm39) |
V104F |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,988,947 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,667,374 (GRCm39) |
Y846* |
probably null |
Het |
|
| Other mutations in Lix1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1630:Lix1
|
UTSW |
17 |
17,677,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1711:Lix1
|
UTSW |
17 |
17,666,320 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5760:Lix1
|
UTSW |
17 |
17,647,499 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6058:Lix1
|
UTSW |
17 |
17,664,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Lix1
|
UTSW |
17 |
17,666,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7331:Lix1
|
UTSW |
17 |
17,647,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8061:Lix1
|
UTSW |
17 |
17,663,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8848:Lix1
|
UTSW |
17 |
17,663,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Lix1
|
UTSW |
17 |
17,677,392 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9278:Lix1
|
UTSW |
17 |
17,623,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGTCTTCACAGTTGAGAGCGG -3'
(R):5'- GCTACCTTGGAAACGAAATGCTATGC -3'
Sequencing Primer
(F):5'- AGCCTTAAACACCTGGTGCA -3'
(R):5'- AGGCATGAGTCAGCTTTATCCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation