Incidental Mutation 'R7692:Lztfl1'
| ID |
593453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lztfl1
|
| Ensembl Gene |
ENSMUSG00000025245 |
| Gene Name |
leucine zipper transcription factor-like 1 |
| Synonyms |
6130400H19Rik, 5530402H04Rik |
| MMRRC Submission |
045756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R7692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123523469-123546690 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 123541536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 94
(W94*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026274]
[ENSMUST00000163207]
[ENSMUST00000163559]
[ENSMUST00000166097]
|
| AlphaFold |
Q9JHQ5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026274
AA Change: W94*
|
| SMART Domains |
Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245
AA Change: W94*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Leu_zip
|
20 |
294 |
1e-136 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098258
AA Change: W51*
|
| SMART Domains |
Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245
AA Change: W51*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Leu_zip
|
1 |
218 |
1.1e-97 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163207
AA Change: W101*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163559
|
| SMART Domains |
Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165754
AA Change: W84*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166097
AA Change: W94*
|
| SMART Domains |
Protein: ENSMUSP00000130872
Gene: ENSMUSG00000025245
AA Change: W94*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Leu_zip
|
20 |
134 |
8.5e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168921
AA Change: W51*
|
| SMART Domains |
Protein: ENSMUSP00000132359
Gene: ENSMUSG00000025245
AA Change: W51*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Leu_zip
|
1 |
117 |
4.3e-60 |
PFAM |
|
Pfam:Leu_zip
|
109 |
230 |
1.2e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit obesity, ventriculomegaly, decreased ERG a- and b-wave amplitudes, abnormal photoreceptor outer segment (OS) structure with large vesicle formation, and progressive retinal photoreceptor degeneration due to accumulation of non-OS proteins in the OS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
G |
A |
8: 43,973,832 (GRCm39) |
T390I |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,287,456 (GRCm39) |
|
probably null |
Het |
| Ado |
G |
T |
10: 67,384,265 (GRCm39) |
Y113* |
probably null |
Het |
| Angptl1 |
A |
G |
1: 156,672,885 (GRCm39) |
E237G |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,254,578 (GRCm39) |
Y141* |
probably null |
Het |
| Clvs1 |
T |
C |
4: 9,350,739 (GRCm39) |
I183T |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,014,295 (GRCm39) |
K1817E |
probably benign |
Het |
| Eif3e |
C |
A |
15: 43,126,642 (GRCm39) |
R271L |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,703,085 (GRCm39) |
V1611A |
probably damaging |
Het |
| Enpp3 |
G |
T |
10: 24,660,739 (GRCm39) |
Y634* |
probably null |
Het |
| Evi5l |
C |
T |
8: 4,250,886 (GRCm39) |
R394W |
probably damaging |
Het |
| Fcgr3 |
A |
C |
1: 170,881,661 (GRCm39) |
F156V |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,402 (GRCm39) |
T294S |
probably benign |
Het |
| Gabrb3 |
A |
G |
7: 57,466,203 (GRCm39) |
Q339R |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,292,167 (GRCm39) |
T606S |
probably benign |
Het |
| Gfod1 |
T |
C |
13: 43,354,528 (GRCm39) |
Q149R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,788,071 (GRCm39) |
V276A |
probably benign |
Het |
| Hc |
C |
A |
2: 34,914,161 (GRCm39) |
V849F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,459,627 (GRCm39) |
I832T |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,497,643 (GRCm39) |
D283G |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,306 (GRCm39) |
S381G |
probably benign |
Het |
| Mgat2 |
A |
G |
12: 69,231,444 (GRCm39) |
Y6C |
probably damaging |
Het |
| Mrpl30 |
T |
C |
1: 37,934,439 (GRCm39) |
I27T |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,406,966 (GRCm39) |
T1045S |
unknown |
Het |
| Nlrp4a |
G |
A |
7: 26,148,690 (GRCm39) |
R99Q |
probably benign |
Het |
| Or10g1 |
T |
C |
14: 52,647,945 (GRCm39) |
Y128C |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,006 (GRCm39) |
T18A |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,209,132 (GRCm39) |
L495P |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,776 (GRCm39) |
D178G |
possibly damaging |
Het |
| Prl5a1 |
C |
G |
13: 28,333,997 (GRCm39) |
L167V |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,087,651 (GRCm39) |
V740A |
probably benign |
Het |
| Sbno1 |
T |
G |
5: 124,543,709 (GRCm39) |
T277P |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,462 (GRCm39) |
V433A |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,134,308 (GRCm39) |
V1008A |
possibly damaging |
Het |
| Smarcal1 |
T |
G |
1: 72,625,179 (GRCm39) |
S109A |
probably benign |
Het |
| Speg |
A |
G |
1: 75,377,834 (GRCm39) |
D864G |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,026,976 (GRCm39) |
I313T |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,786,869 (GRCm39) |
D614E |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,610 (GRCm39) |
K2246E |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,520 (GRCm39) |
S208P |
probably damaging |
Het |
| Tmem229a |
C |
A |
6: 24,955,211 (GRCm39) |
C181F |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,958 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ugt2a1 |
A |
G |
5: 87,634,586 (GRCm39) |
L7P |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,619,905 (GRCm39) |
D272G |
possibly damaging |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,827 (GRCm39) |
I127F |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,505,490 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Zfand6 |
G |
A |
7: 84,283,141 (GRCm39) |
P72L |
not run |
Het |
|
| Other mutations in Lztfl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Lztfl1
|
APN |
9 |
123,531,338 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01610:Lztfl1
|
APN |
9 |
123,529,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03084:Lztfl1
|
APN |
9 |
123,538,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Lztfl1
|
UTSW |
9 |
123,536,971 (GRCm39) |
splice site |
probably null |
|
|
R2010:Lztfl1
|
UTSW |
9 |
123,531,251 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4832:Lztfl1
|
UTSW |
9 |
123,544,454 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6894:Lztfl1
|
UTSW |
9 |
123,529,998 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6974:Lztfl1
|
UTSW |
9 |
123,538,649 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7703:Lztfl1
|
UTSW |
9 |
123,531,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Lztfl1
|
UTSW |
9 |
123,544,395 (GRCm39) |
missense |
probably null |
0.54 |
|
R8244:Lztfl1
|
UTSW |
9 |
123,541,514 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8536:Lztfl1
|
UTSW |
9 |
123,540,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Lztfl1
|
UTSW |
9 |
123,537,167 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGGCCTTTGAGTGCTCC -3'
(R):5'- GTTGCTCCTGTGACTAACGAG -3'
Sequencing Primer
(F):5'- CTCCTCAAGGAAGGAATCATCTAGTG -3'
(R):5'- CTAACGAGCCAATGGTGTCATACTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation