Incidental Mutation 'IGL03191:Lztr1'
| ID |
412648 |
| 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 # |
IGL03191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17336392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 199
(M199K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000232372]
[ENSMUST00000231994]
[ENSMUST00000231292]
[ENSMUST00000231307]
[ENSMUST00000232242]
|
| AlphaFold |
Q9CQ33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023444
AA Change: M199K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: M199K
| 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: M199K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
AA Change: M199K
| 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: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232372
AA Change: M112K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231994
AA Change: M199K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231292
AA Change: M180K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,094 (GRCm39) |
D612G |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
| Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,015,986 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
| Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
| Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,147,454 (GRCm39) |
H78R |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
| Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
| Pilrb1 |
A |
T |
5: 137,853,227 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
| Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
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 |
|
|
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 |
|
IGL03012:Lztr1
|
APN |
16 |
17,339,348 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
Incidental Mutation