Incidental Mutation 'RF033:Luzp1'
| ID |
604447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luzp1
|
| Ensembl Gene |
ENSMUSG00000001089 |
| Gene Name |
leucine zipper protein 1 |
| Synonyms |
2700072H04Rik, Luzp |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
RF033 (G1)
|
| Quality Score |
214.46 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136197072-136282091 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
A to AGGTGTCCTCTTCAGC
at 136270507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001116]
[ENSMUST00000063021]
[ENSMUST00000105849]
[ENSMUST00000129230]
[ENSMUST00000168936]
[ENSMUST00000170102]
|
| AlphaFold |
Q8R4U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001116
|
| SMART Domains |
Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063021
|
| SMART Domains |
Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105849
|
| SMART Domains |
Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129230
|
| SMART Domains |
Protein: ENSMUSP00000128591
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170102
|
| SMART Domains |
Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
| Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TGTTT |
TGTTTGTTGGTTT |
4: 107,047,725 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Luzp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Luzp1
|
APN |
4 |
136,270,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01766:Luzp1
|
APN |
4 |
136,270,084 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01868:Luzp1
|
APN |
4 |
136,270,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03230:Luzp1
|
APN |
4 |
136,270,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
FR4548:Luzp1
|
UTSW |
4 |
136,270,499 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
R0106:Luzp1
|
UTSW |
4 |
136,269,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0674:Luzp1
|
UTSW |
4 |
136,270,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0676:Luzp1
|
UTSW |
4 |
136,269,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1103:Luzp1
|
UTSW |
4 |
136,268,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1541:Luzp1
|
UTSW |
4 |
136,270,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Luzp1
|
UTSW |
4 |
136,269,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3924:Luzp1
|
UTSW |
4 |
136,270,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Luzp1
|
UTSW |
4 |
136,269,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4449:Luzp1
|
UTSW |
4 |
136,268,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Luzp1
|
UTSW |
4 |
136,270,708 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5119:Luzp1
|
UTSW |
4 |
136,270,708 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5411:Luzp1
|
UTSW |
4 |
136,270,653 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5659:Luzp1
|
UTSW |
4 |
136,269,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Luzp1
|
UTSW |
4 |
136,268,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5828:Luzp1
|
UTSW |
4 |
136,267,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Luzp1
|
UTSW |
4 |
136,268,791 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6147:Luzp1
|
UTSW |
4 |
136,268,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Luzp1
|
UTSW |
4 |
136,270,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6200:Luzp1
|
UTSW |
4 |
136,268,577 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6368:Luzp1
|
UTSW |
4 |
136,269,091 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6581:Luzp1
|
UTSW |
4 |
136,267,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Luzp1
|
UTSW |
4 |
136,272,609 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6932:Luzp1
|
UTSW |
4 |
136,268,124 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Luzp1
|
UTSW |
4 |
136,270,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Luzp1
|
UTSW |
4 |
136,268,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Luzp1
|
UTSW |
4 |
136,269,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Luzp1
|
UTSW |
4 |
136,270,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Luzp1
|
UTSW |
4 |
136,269,195 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8292:Luzp1
|
UTSW |
4 |
136,269,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8511:Luzp1
|
UTSW |
4 |
136,268,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Luzp1
|
UTSW |
4 |
136,270,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Luzp1
|
UTSW |
4 |
136,272,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Luzp1
|
UTSW |
4 |
136,270,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9704:Luzp1
|
UTSW |
4 |
136,268,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9756:Luzp1
|
UTSW |
4 |
136,270,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF028:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTAGCAACCATGTCAGCTCC -3'
(R):5'- CTGTTCAGATGGCTGTGACC -3'
Sequencing Primer
(F):5'- TTCATAAACATGACATCACCTTGCAG -3'
(R):5'- ACCTGGGCTGCTCAAGTTCTAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation