Incidental Mutation 'R5624:Lztr1'
| ID |
441759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lztr1
|
| Ensembl Gene |
ENSMUSG00000022761 |
| Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
| Synonyms |
TCFL2, 1200003E21Rik |
| MMRRC Submission |
043163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5624 (G1)
|
| Quality Score |
126 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 17329993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000023448]
[ENSMUST00000115681]
[ENSMUST00000115685]
[ENSMUST00000232242]
[ENSMUST00000231292]
[ENSMUST00000231994]
[ENSMUST00000232372]
|
| 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: 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 |
|
| 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 |
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: ENSMUST00000132953
|
| 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: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
| Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
| Cfap52 |
C |
G |
11: 67,818,184 (GRCm39) |
C509S |
possibly damaging |
Het |
| Clcn4 |
C |
A |
7: 7,291,943 (GRCm39) |
V623L |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
| E2f8 |
G |
T |
7: 48,527,709 (GRCm39) |
D144E |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
| Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
| Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
| Lmtk3 |
C |
A |
7: 45,436,286 (GRCm39) |
A114E |
probably damaging |
Het |
| Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
| Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
| Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
| Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
| Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,325 (GRCm39) |
H174L |
probably damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
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 |
|
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 |
|
|
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'- TACTGCCTCCAACCCTAGATGC -3'
(R):5'- TAGTGATCGAAGGTCCCACC -3'
Sequencing Primer
(F):5'- AACCCTAGATGCATGCCTTC -3'
(R):5'- CAGACCAAAGGCAGCCTGTAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation