Incidental Mutation 'IGL01152:Lztr1'
ID |
52981 |
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 # |
IGL01152
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 17340317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 136
(Q136K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000142259]
[ENSMUST00000231307]
[ENSMUST00000231292]
[ENSMUST00000231994]
[ENSMUST00000232372]
|
AlphaFold |
Q9CQ33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023444
AA Change: Q473K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023444 Gene: ENSMUSG00000022761 AA Change: Q473K
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 damaging
Transcript: ENSMUST00000115681
AA Change: Q473K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111345 Gene: ENSMUSG00000022761 AA Change: Q473K
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 |
probably damaging
Transcript: ENSMUST00000142259
AA Change: Q136K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118569 Gene: ENSMUSG00000022761 AA Change: Q136K
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: ENSMUST00000147888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142393
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231307
AA Change: Q136K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231292
AA Change: Q454K
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clk1 |
A |
T |
1: 58,452,611 (GRCm39) |
C359S |
possibly damaging |
Het |
Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
Igdcc4 |
A |
C |
9: 65,042,446 (GRCm39) |
E121A |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
Large2 |
A |
G |
2: 92,200,984 (GRCm39) |
L64P |
probably damaging |
Het |
Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
Pacsin3 |
A |
G |
2: 91,094,121 (GRCm39) |
D350G |
probably benign |
Het |
Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,273,675 (GRCm39) |
H1064N |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably 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 |
|
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 |
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 |
2013-06-21 |