Incidental Mutation 'IGL03012:Lztr1'
ID |
407806 |
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 # |
IGL03012
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17339348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 57
(S57P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000142259]
[ENSMUST00000231292]
[ENSMUST00000231307]
[ENSMUST00000232372]
[ENSMUST00000231994]
|
AlphaFold |
Q9CQ33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023444
AA Change: S394P
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023444 Gene: ENSMUSG00000022761 AA Change: S394P
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 |
possibly damaging
Transcript: ENSMUST00000115681
AA Change: S394P
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111345 Gene: ENSMUSG00000022761 AA Change: S394P
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 |
noncoding transcript
Transcript: ENSMUST00000127649
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134618
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142222
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142259
AA Change: S57P
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000118569 Gene: ENSMUSG00000022761 AA Change: S57P
Domain | Start | End | E-Value | Type |
BTB
|
103 |
234 |
4.16e-4 |
SMART |
BTB
|
327 |
460 |
1.7e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142393
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231292
AA Change: S375P
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231307
AA Change: S57P
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231230
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
A |
C |
9: 118,986,014 (GRCm39) |
S17A |
probably benign |
Het |
Acp1 |
T |
G |
12: 30,945,948 (GRCm39) |
N135T |
probably benign |
Het |
Adamts2 |
A |
G |
11: 50,667,096 (GRCm39) |
|
probably benign |
Het |
Arfgef2 |
C |
T |
2: 166,710,808 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,085,482 (GRCm39) |
I287N |
probably damaging |
Het |
Camta1 |
T |
A |
4: 151,537,756 (GRCm39) |
K141N |
probably damaging |
Het |
Carmil1 |
T |
C |
13: 24,220,355 (GRCm39) |
D719G |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,666,229 (GRCm39) |
H1086Q |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,670,300 (GRCm39) |
|
probably null |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
G6pd2 |
A |
G |
5: 61,966,816 (GRCm39) |
Y197C |
probably damaging |
Het |
Il13ra1 |
G |
T |
X: 35,394,247 (GRCm39) |
|
probably benign |
Het |
Ivl |
G |
A |
3: 92,479,733 (GRCm39) |
P111S |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,722,263 (GRCm39) |
|
probably benign |
Het |
Mtss1 |
T |
G |
15: 58,930,249 (GRCm39) |
D32A |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,773,151 (GRCm39) |
D1250N |
probably benign |
Het |
Ncln |
A |
G |
10: 81,325,799 (GRCm39) |
F349L |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,572,572 (GRCm39) |
|
probably benign |
Het |
Rarres2 |
T |
C |
6: 48,547,239 (GRCm39) |
D107G |
probably benign |
Het |
Ric3 |
T |
C |
7: 108,637,925 (GRCm39) |
D276G |
probably benign |
Het |
Trim54 |
A |
G |
5: 31,294,489 (GRCm39) |
D339G |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,850,195 (GRCm39) |
H1005Y |
probably damaging |
Het |
Tulp4 |
G |
T |
17: 6,263,654 (GRCm39) |
|
probably benign |
Het |
Unc93a |
C |
T |
17: 13,328,495 (GRCm39) |
E453K |
probably benign |
Het |
Vmn1r181 |
A |
T |
7: 23,684,027 (GRCm39) |
D164V |
probably damaging |
Het |
Vmn1r78 |
T |
A |
7: 11,887,291 (GRCm39) |
S301T |
probably benign |
Het |
Vmn1r85 |
T |
C |
7: 12,818,692 (GRCm39) |
N151D |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,197,865 (GRCm39) |
K2008E |
probably damaging |
Het |
Wrap73 |
A |
G |
4: 154,229,691 (GRCm39) |
|
probably benign |
Het |
Zfp408 |
G |
A |
2: 91,478,153 (GRCm39) |
A41V |
probably benign |
Het |
Zfp472 |
A |
G |
17: 33,196,545 (GRCm39) |
S207G |
probably benign |
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 |
IGL02603:Lztr1
|
APN |
16 |
17,327,550 (GRCm39) |
missense |
possibly damaging |
0.77 |
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 |
2016-08-02 |