Incidental Mutation 'R4539:Luzp2'
| ID |
333454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luzp2
|
| Ensembl Gene |
ENSMUSG00000063297 |
| Gene Name |
leucine zipper protein 2 |
| Synonyms |
9330154K17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
54485246-54918633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54713037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 91
(Q91L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082373]
|
| AlphaFold |
Q8BGY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082373
AA Change: Q91L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: Q91L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
168 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206923
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no overt abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
| Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
| Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
A |
G |
5: 124,002,793 (GRCm39) |
F237L |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
| Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
| Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
| Neurl1a |
T |
A |
19: 47,245,183 (GRCm39) |
S458T |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,411,399 (GRCm39) |
E308G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
| Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
| Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
| Zbtb39 |
G |
A |
10: 127,578,061 (GRCm39) |
D212N |
possibly damaging |
Het |
| Zfp418 |
C |
A |
7: 7,184,276 (GRCm39) |
Q80K |
probably benign |
Het |
| Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
probably benign |
Het |
|
| Other mutations in Luzp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Luzp2
|
APN |
7 |
54,724,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Luzp2
|
APN |
7 |
54,821,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01908:Luzp2
|
APN |
7 |
54,821,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Luzp2
|
APN |
7 |
54,861,546 (GRCm39) |
nonsense |
probably null |
|
|
IGL02727:Luzp2
|
APN |
7 |
54,821,939 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Luzp2
|
UTSW |
7 |
54,899,194 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0564:Luzp2
|
UTSW |
7 |
54,485,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Luzp2
|
UTSW |
7 |
54,899,238 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1648:Luzp2
|
UTSW |
7 |
54,914,018 (GRCm39) |
splice site |
probably null |
|
|
R1752:Luzp2
|
UTSW |
7 |
54,914,088 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1943:Luzp2
|
UTSW |
7 |
54,914,050 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2294:Luzp2
|
UTSW |
7 |
54,821,938 (GRCm39) |
splice site |
probably benign |
|
|
R2295:Luzp2
|
UTSW |
7 |
54,821,938 (GRCm39) |
splice site |
probably benign |
|
|
R4611:Luzp2
|
UTSW |
7 |
54,713,104 (GRCm39) |
splice site |
probably null |
|
|
R4716:Luzp2
|
UTSW |
7 |
54,485,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Luzp2
|
UTSW |
7 |
54,816,996 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4875:Luzp2
|
UTSW |
7 |
54,816,996 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5108:Luzp2
|
UTSW |
7 |
54,915,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6023:Luzp2
|
UTSW |
7 |
54,707,815 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6034:Luzp2
|
UTSW |
7 |
54,816,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Luzp2
|
UTSW |
7 |
54,816,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6412:Luzp2
|
UTSW |
7 |
54,707,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Luzp2
|
UTSW |
7 |
54,915,078 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7186:Luzp2
|
UTSW |
7 |
54,485,577 (GRCm39) |
start gained |
probably benign |
|
|
R7270:Luzp2
|
UTSW |
7 |
54,724,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7588:Luzp2
|
UTSW |
7 |
54,724,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8036:Luzp2
|
UTSW |
7 |
54,724,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Luzp2
|
UTSW |
7 |
54,702,510 (GRCm39) |
nonsense |
probably null |
|
|
R8729:Luzp2
|
UTSW |
7 |
54,816,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Luzp2
|
UTSW |
7 |
54,914,108 (GRCm39) |
splice site |
probably benign |
|
|
R9652:Luzp2
|
UTSW |
7 |
54,702,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Luzp2
|
UTSW |
7 |
54,702,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Luzp2
|
UTSW |
7 |
54,821,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGACTCACACTGTGGGATTC -3'
(R):5'- GACTGAAACTTCTGTTATGGTGAG -3'
Sequencing Primer
(F):5'- GAAAGCCAGTCCCTTGTTACTAGTG -3'
(R):5'- TGAAACTTCTGTTATGGTGAGTTTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation