Incidental Mutation 'R2294:Luzp2'
| ID |
245099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luzp2
|
| Ensembl Gene |
ENSMUSG00000063297 |
| Gene Name |
leucine zipper protein 2 |
| Synonyms |
9330154K17Rik |
| MMRRC Submission |
040293-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
54485246-54918633 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 54821938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082373]
|
| AlphaFold |
Q8BGY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082373
|
| SMART Domains |
Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (30/30) |
| 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 |
|---|
| Adcy6 |
C |
T |
15: 98,495,322 (GRCm39) |
V673I |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,829,122 (GRCm39) |
E166G |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,760,172 (GRCm39) |
S135T |
probably benign |
Het |
| Dxo |
G |
A |
17: 35,057,962 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
A |
G |
9: 109,505,865 (GRCm39) |
S469P |
probably damaging |
Het |
| G3bp2 |
G |
A |
5: 92,205,887 (GRCm39) |
R290C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,026,591 (GRCm39) |
L103P |
probably damaging |
Het |
| Lrig3 |
C |
T |
10: 125,802,363 (GRCm39) |
R7* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,434,705 (GRCm39) |
C1333R |
probably damaging |
Het |
| Lypd8 |
A |
T |
11: 58,277,680 (GRCm39) |
N154I |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,200,155 (GRCm39) |
D252E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,569,855 (GRCm39) |
V7E |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,312 (GRCm39) |
L213P |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,407,423 (GRCm39) |
D446V |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 132,994,513 (GRCm39) |
P159H |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,343,003 (GRCm39) |
T160I |
probably damaging |
Het |
| Prelid3a |
C |
T |
18: 67,605,941 (GRCm39) |
T16M |
probably damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,854 (GRCm39) |
M125K |
possibly damaging |
Het |
| Rars1 |
C |
A |
11: 35,708,363 (GRCm39) |
|
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,200,991 (GRCm39) |
T235A |
probably benign |
Het |
| Slc38a2 |
C |
A |
15: 96,589,643 (GRCm39) |
V363L |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,684 (GRCm39) |
N118S |
probably benign |
Het |
| Tmem175 |
T |
C |
5: 108,786,525 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,757,436 (GRCm39) |
N252K |
probably benign |
Het |
| Trappc8 |
G |
T |
18: 20,999,211 (GRCm39) |
C305* |
probably null |
Het |
| Tyro3 |
T |
C |
2: 119,636,126 (GRCm39) |
V223A |
probably damaging |
Het |
| Yipf2 |
C |
T |
9: 21,501,177 (GRCm39) |
V74M |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGATGGCTGCATGTCTGATG -3'
(R):5'- TAGAATCAACTCTGCCTCTGAC -3'
Sequencing Primer
(F):5'- CATGTCTGATGCCAAAGCTAAG -3'
(R):5'- GGAATCTGAACTCAGCTAAGAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation