Incidental Mutation 'IGL02603:Lztr1'
ID |
300156 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lztr1
|
Ensembl Gene |
ENSMUSG00000022761 |
Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
Synonyms |
TCFL2, 1200003E21Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02603
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 17327550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 84
(N84K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000023448]
[ENSMUST00000115681]
[ENSMUST00000115685]
[ENSMUST00000231292]
[ENSMUST00000231994]
[ENSMUST00000232372]
[ENSMUST00000232242]
|
AlphaFold |
Q9CQ33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023444
AA Change: N84K
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023444 Gene: ENSMUSG00000022761 AA Change: N84K
Domain | Start | End | E-Value | Type |
Pfam:Kelch_6
|
64 |
103 |
1.1e-7 |
PFAM |
Pfam:Kelch_1
|
64 |
105 |
1.7e-7 |
PFAM |
Pfam:Kelch_4
|
64 |
113 |
4.7e-10 |
PFAM |
Pfam:Kelch_3
|
74 |
123 |
3.1e-10 |
PFAM |
Pfam:Kelch_5
|
111 |
152 |
7.2e-9 |
PFAM |
Pfam:Kelch_1
|
114 |
161 |
2.8e-7 |
PFAM |
Pfam:Kelch_2
|
114 |
163 |
1e-7 |
PFAM |
Pfam:Kelch_4
|
114 |
170 |
1.9e-6 |
PFAM |
Pfam:Kelch_3
|
124 |
180 |
9.1e-9 |
PFAM |
Pfam:Kelch_4
|
171 |
224 |
6.1e-6 |
PFAM |
Pfam:Kelch_3
|
181 |
232 |
6e-7 |
PFAM |
Pfam:Kelch_1
|
224 |
267 |
1e-6 |
PFAM |
Pfam:Kelch_4
|
225 |
278 |
6.2e-6 |
PFAM |
Pfam:Kelch_3
|
234 |
289 |
2.2e-8 |
PFAM |
Pfam:Kelch_1
|
280 |
325 |
7.7e-10 |
PFAM |
Pfam:Kelch_2
|
280 |
325 |
4.3e-7 |
PFAM |
Pfam:Kelch_6
|
280 |
325 |
9.6e-9 |
PFAM |
Pfam:Kelch_4
|
280 |
329 |
2.5e-8 |
PFAM |
BTB
|
440 |
571 |
4.16e-4 |
SMART |
BTB
|
664 |
765 |
2.95e-18 |
SMART |
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023448
|
SMART Domains |
Protein: ENSMUSP00000023448 Gene: ENSMUSG00000022763
Domain | Start | End | E-Value | Type |
Pfam:Rieske
|
68 |
161 |
3.6e-18 |
PFAM |
Pfam:Rieske_2
|
70 |
166 |
7.7e-11 |
PFAM |
Pfam:Pyr_redox_2
|
196 |
473 |
1.1e-34 |
PFAM |
Pfam:Pyr_redox
|
334 |
416 |
7e-17 |
PFAM |
Pfam:Reductase_C
|
512 |
591 |
9.4e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115681
AA Change: N84K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000111345 Gene: ENSMUSG00000022761 AA Change: N84K
Domain | Start | End | E-Value | Type |
Pfam:Kelch_5
|
63 |
99 |
1.1e-6 |
PFAM |
Pfam:Kelch_1
|
64 |
105 |
1.6e-8 |
PFAM |
Pfam:Kelch_4
|
64 |
113 |
5.8e-9 |
PFAM |
Pfam:Kelch_6
|
64 |
115 |
2.6e-9 |
PFAM |
Pfam:Kelch_3
|
74 |
123 |
2.4e-11 |
PFAM |
Pfam:Kelch_5
|
111 |
150 |
5.5e-10 |
PFAM |
Pfam:Kelch_1
|
114 |
161 |
5.8e-8 |
PFAM |
Pfam:Kelch_2
|
114 |
163 |
3.1e-8 |
PFAM |
Pfam:Kelch_4
|
114 |
170 |
1e-9 |
PFAM |
Pfam:Kelch_3
|
124 |
180 |
2.5e-10 |
PFAM |
Pfam:Kelch_5
|
168 |
204 |
6.1e-7 |
PFAM |
Pfam:Kelch_4
|
171 |
224 |
7.9e-8 |
PFAM |
Pfam:Kelch_3
|
181 |
233 |
9.1e-8 |
PFAM |
Pfam:Kelch_4
|
223 |
279 |
3.1e-7 |
PFAM |
Pfam:Kelch_1
|
224 |
267 |
1.9e-6 |
PFAM |
Pfam:Kelch_3
|
234 |
289 |
1.5e-8 |
PFAM |
Pfam:Kelch_1
|
280 |
325 |
2.9e-10 |
PFAM |
Pfam:Kelch_2
|
280 |
325 |
1.3e-7 |
PFAM |
Pfam:Kelch_6
|
280 |
326 |
2.4e-9 |
PFAM |
Pfam:Kelch_4
|
280 |
335 |
1.7e-9 |
PFAM |
Pfam:Kelch_5
|
381 |
419 |
2.8e-7 |
PFAM |
BTB
|
440 |
571 |
4.16e-4 |
SMART |
BTB
|
664 |
797 |
1.7e-18 |
SMART |
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115685
|
SMART Domains |
Protein: ENSMUSP00000111349 Gene: ENSMUSG00000022763
Domain | Start | End | E-Value | Type |
Pfam:Rieske
|
68 |
161 |
6.5e-23 |
PFAM |
Pfam:Rieske_2
|
70 |
166 |
1.4e-10 |
PFAM |
Pfam:Pyr_redox_2
|
195 |
493 |
1.6e-65 |
PFAM |
Pfam:Pyr_redox
|
334 |
416 |
7.3e-18 |
PFAM |
Pfam:Reductase_C
|
512 |
586 |
9.3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231292
AA Change: N84K
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231994
AA Change: N84K
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232421
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231508
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231538
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,637,071 (GRCm39) |
S3457P |
possibly damaging |
Het |
Aipl1 |
A |
G |
11: 71,927,526 (GRCm39) |
I63T |
possibly damaging |
Het |
Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
Cdc20b |
T |
C |
13: 113,215,289 (GRCm39) |
S286P |
possibly damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,280,807 (GRCm39) |
R946H |
probably damaging |
Het |
Fam98c |
A |
G |
7: 28,853,873 (GRCm39) |
S232P |
probably damaging |
Het |
Glt1d1 |
G |
T |
5: 127,709,409 (GRCm39) |
R21L |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,125,436 (GRCm39) |
|
noncoding transcript |
Het |
Haao |
T |
A |
17: 84,142,970 (GRCm39) |
D125V |
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,657,588 (GRCm39) |
V832A |
probably damaging |
Het |
Lrrtm4 |
C |
A |
6: 79,999,967 (GRCm39) |
Q460K |
possibly damaging |
Het |
Lyar |
A |
G |
5: 38,391,405 (GRCm39) |
N368S |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Ndufa8 |
C |
A |
2: 35,934,470 (GRCm39) |
C36F |
probably damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,657 (GRCm39) |
V227E |
probably damaging |
Het |
Or2n1d |
T |
A |
17: 38,646,404 (GRCm39) |
S119T |
probably damaging |
Het |
Psg19 |
A |
G |
7: 18,526,693 (GRCm39) |
S146P |
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Spopfm3 |
A |
T |
3: 94,105,744 (GRCm39) |
T21S |
possibly damaging |
Het |
|
Other mutations in Lztr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:Lztr1
|
APN |
16 |
17,335,314 (GRCm39) |
splice site |
probably benign |
|
IGL01152:Lztr1
|
APN |
16 |
17,340,317 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01501:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
IGL01512:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
IGL01514:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
IGL01516:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
IGL01933:Lztr1
|
APN |
16 |
17,338,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03012:Lztr1
|
APN |
16 |
17,339,348 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03191:Lztr1
|
APN |
16 |
17,336,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0331:Lztr1
|
UTSW |
16 |
17,342,101 (GRCm39) |
unclassified |
probably benign |
|
R0717:Lztr1
|
UTSW |
16 |
17,333,912 (GRCm39) |
splice site |
probably null |
|
R1511:Lztr1
|
UTSW |
16 |
17,327,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Lztr1
|
UTSW |
16 |
17,341,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R2062:Lztr1
|
UTSW |
16 |
17,327,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R3694:Lztr1
|
UTSW |
16 |
17,326,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3935:Lztr1
|
UTSW |
16 |
17,340,059 (GRCm39) |
nonsense |
probably null |
|
R4645:Lztr1
|
UTSW |
16 |
17,341,955 (GRCm39) |
unclassified |
probably benign |
|
R5624:Lztr1
|
UTSW |
16 |
17,329,993 (GRCm39) |
splice site |
probably benign |
|
R7175:Lztr1
|
UTSW |
16 |
17,340,895 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7222:Lztr1
|
UTSW |
16 |
17,341,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7420:Lztr1
|
UTSW |
16 |
17,341,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R7515:Lztr1
|
UTSW |
16 |
17,327,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7516:Lztr1
|
UTSW |
16 |
17,327,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8027:Lztr1
|
UTSW |
16 |
17,329,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R8153:Lztr1
|
UTSW |
16 |
17,336,439 (GRCm39) |
critical splice donor site |
probably null |
|
R8836:Lztr1
|
UTSW |
16 |
17,343,402 (GRCm39) |
missense |
probably benign |
0.07 |
R8965:Lztr1
|
UTSW |
16 |
17,327,296 (GRCm39) |
critical splice donor site |
probably null |
|
R9015:Lztr1
|
UTSW |
16 |
17,337,305 (GRCm39) |
missense |
probably benign |
0.08 |
R9232:Lztr1
|
UTSW |
16 |
17,339,343 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9667:Lztr1
|
UTSW |
16 |
17,327,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |