Incidental Mutation 'R0331:Lztr1'
| ID |
26097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lztr1
|
| Ensembl Gene |
ENSMUSG00000022761 |
| Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
| Synonyms |
TCFL2, 1200003E21Rik |
| MMRRC Submission |
038540-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 17342101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000100125]
[ENSMUST00000115681]
[ENSMUST00000142259]
[ENSMUST00000231307]
[ENSMUST00000231288]
[ENSMUST00000231292]
[ENSMUST00000232114]
[ENSMUST00000231424]
[ENSMUST00000231548]
[ENSMUST00000232372]
[ENSMUST00000231994]
[ENSMUST00000232041]
|
| AlphaFold |
Q9CQ33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023444
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
| 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: ENSMUST00000100125
|
| SMART Domains |
Protein: ENSMUSP00000097701
Gene: ENSMUSG00000022760
| Domain | Start | End | E-Value | Type |
|---|
|
THAP
|
3 |
99 |
5e-20 |
SMART |
|
DM3
|
25 |
98 |
4.22e-20 |
SMART |
|
low complexity region
|
118 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
|
coiled coil region
|
239 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
| 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: ENSMUST00000127856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134618
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118569
Gene: ENSMUSG00000022761
| 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: ENSMUST00000139088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231699
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.8%
- 20x: 91.7%
|
| Validation Efficiency |
100% (81/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
A |
8: 79,956,021 (GRCm39) |
T79S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,817,684 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
G |
A |
13: 91,908,183 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
A |
1: 171,078,541 (GRCm39) |
S54T |
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,203,577 (GRCm39) |
S96P |
probably benign |
Het |
| Aip |
G |
T |
19: 4,168,247 (GRCm39) |
T40K |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,012,984 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,103,618 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,538,161 (GRCm39) |
T465A |
possibly damaging |
Het |
| Atp11a |
C |
T |
8: 12,866,953 (GRCm39) |
Q127* |
probably null |
Het |
| Axin1 |
A |
G |
17: 26,362,081 (GRCm39) |
R142G |
probably damaging |
Het |
| Bcat1 |
T |
A |
6: 144,993,040 (GRCm39) |
E86V |
probably benign |
Het |
| Brd4 |
G |
A |
17: 32,421,489 (GRCm39) |
P749L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,496,394 (GRCm39) |
|
probably null |
Het |
| Capza2 |
A |
T |
6: 17,665,102 (GRCm39) |
N237I |
probably benign |
Het |
| Cd2ap |
A |
T |
17: 43,116,192 (GRCm39) |
V556E |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,968,460 (GRCm39) |
P124L |
probably damaging |
Het |
| Cfap65 |
G |
T |
1: 74,968,461 (GRCm39) |
P124T |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,235,225 (GRCm39) |
V488A |
possibly damaging |
Het |
| Ckmt1 |
A |
T |
2: 121,193,337 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
T |
G |
13: 93,280,911 (GRCm39) |
E35A |
possibly damaging |
Het |
| Col7a1 |
A |
G |
9: 108,796,570 (GRCm39) |
|
probably benign |
Het |
| Crmp1 |
C |
T |
5: 37,422,657 (GRCm39) |
L155F |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,291,227 (GRCm39) |
T33S |
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,544 (GRCm39) |
K48E |
probably benign |
Het |
| Dlst |
T |
C |
12: 85,165,586 (GRCm39) |
V103A |
probably damaging |
Het |
| Dohh |
C |
T |
10: 81,223,646 (GRCm39) |
T233I |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,897,043 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,914,703 (GRCm39) |
Q286* |
probably null |
Het |
| Enpp6 |
C |
A |
8: 47,535,484 (GRCm39) |
T343K |
probably damaging |
Het |
| Fbxw11 |
T |
A |
11: 32,661,895 (GRCm39) |
F112I |
probably damaging |
Het |
| Gdpd4 |
T |
A |
7: 97,622,215 (GRCm39) |
N231K |
probably benign |
Het |
| Gm6370 |
A |
T |
5: 146,430,576 (GRCm39) |
T254S |
probably benign |
Het |
| Hapln4 |
G |
T |
8: 70,537,159 (GRCm39) |
Q31H |
probably damaging |
Het |
| Hic1 |
T |
A |
11: 75,056,316 (GRCm39) |
T858S |
possibly damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,092 (GRCm39) |
L101P |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,559,799 (GRCm39) |
Y485H |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,905,853 (GRCm39) |
|
probably null |
Het |
| Itln1 |
T |
C |
1: 171,359,117 (GRCm39) |
N62S |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,289 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,226,479 (GRCm39) |
|
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,829 (GRCm39) |
H123Q |
probably damaging |
Het |
| Myo3b |
G |
T |
2: 69,925,605 (GRCm39) |
G24V |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,549,441 (GRCm39) |
Q1250L |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,161,981 (GRCm39) |
M431K |
unknown |
Het |
| Nek9 |
T |
A |
12: 85,374,149 (GRCm39) |
|
probably benign |
Het |
| Neu1 |
C |
A |
17: 35,153,146 (GRCm39) |
N255K |
possibly damaging |
Het |
| Nf2 |
T |
A |
11: 4,744,914 (GRCm39) |
T75S |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,041,040 (GRCm39) |
D385V |
probably damaging |
Het |
| Olah |
T |
A |
2: 3,343,511 (GRCm39) |
N245I |
probably damaging |
Het |
| Or5p54 |
G |
T |
7: 107,554,077 (GRCm39) |
L76F |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,767,030 (GRCm39) |
T90S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,176,708 (GRCm39) |
|
probably null |
Het |
| Parva |
A |
G |
7: 112,144,005 (GRCm39) |
M98V |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,834,255 (GRCm39) |
D177V |
possibly damaging |
Het |
| Paxip1 |
A |
G |
5: 27,970,230 (GRCm39) |
I587T |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,390 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,355,713 (GRCm39) |
D1074E |
probably damaging |
Het |
| Pef1 |
A |
T |
4: 130,021,241 (GRCm39) |
D265V |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,893,794 (GRCm39) |
E870K |
possibly damaging |
Het |
| Plscr4 |
G |
A |
9: 92,364,695 (GRCm39) |
G40D |
probably damaging |
Het |
| Psg18 |
A |
G |
7: 18,087,233 (GRCm39) |
Y142H |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,733,017 (GRCm39) |
M636L |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,572,559 (GRCm39) |
D51G |
probably benign |
Het |
| Rnf139 |
T |
A |
15: 58,771,755 (GRCm39) |
D593E |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,217,552 (GRCm39) |
N422S |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,069,914 (GRCm39) |
|
probably benign |
Het |
| Slc7a6os |
A |
G |
8: 106,937,199 (GRCm39) |
I87T |
probably damaging |
Het |
| Slc7a7 |
A |
G |
14: 54,615,381 (GRCm39) |
|
probably benign |
Het |
| Spc24 |
G |
T |
9: 21,668,609 (GRCm39) |
N129K |
possibly damaging |
Het |
| Strip2 |
C |
T |
6: 29,926,559 (GRCm39) |
T148I |
probably benign |
Het |
| Tmem150c |
A |
C |
5: 100,234,132 (GRCm39) |
|
probably null |
Het |
| Trav13-5 |
A |
G |
14: 54,033,205 (GRCm39) |
N38S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,641,364 (GRCm39) |
Y11801* |
probably null |
Het |
| Usp37 |
A |
T |
1: 74,493,223 (GRCm39) |
L688* |
probably null |
Het |
| Usp38 |
T |
C |
8: 81,722,469 (GRCm39) |
I351V |
probably benign |
Het |
| Vav2 |
T |
A |
2: 27,186,187 (GRCm39) |
M223L |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,968 (GRCm39) |
I557M |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,333,239 (GRCm39) |
M259K |
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,888,898 (GRCm39) |
S770L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAATGACTGGCACTTCTGGC -3'
(R):5'- TGTAGCGTAGCATGGACTCGAAGG -3'
Sequencing Primer
(F):5'- CACTTCTGGCTTTGGGAAAC -3'
(R):5'- GCCTGTCTGCTGGGAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation