Incidental Mutation 'IGL01793:Luzp2'
| ID |
155265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
54485246-54918633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54821997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 171
(L171F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082373]
|
| AlphaFold |
Q8BGY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082373
AA Change: L171F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: L171F
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
| D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
| Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
| Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
| Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
| Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
| Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,419,836 (GRCm39) |
D275G |
possibly damaging |
Het |
| Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
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 |
|
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 |
|
|
R4539:Luzp2
|
UTSW |
7 |
54,713,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation