Incidental Mutation 'R7222:Lztr1'
ID |
561901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lztr1
|
Ensembl Gene |
ENSMUSG00000022761 |
Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
Synonyms |
TCFL2, 1200003E21Rik |
MMRRC Submission |
045294-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17341996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 657
(E657G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000100125]
[ENSMUST00000231288]
[ENSMUST00000231292]
[ENSMUST00000231307]
[ENSMUST00000231424]
[ENSMUST00000231548]
[ENSMUST00000231994]
[ENSMUST00000232041]
[ENSMUST00000232114]
[ENSMUST00000232372]
|
AlphaFold |
Q9CQ33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023444
AA Change: E657G
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023444 Gene: ENSMUSG00000022761 AA Change: E657G
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 |
probably benign
Transcript: ENSMUST00000231288
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231292
AA Change: E638G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231307
AA Change: E320G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231424
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231548
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232041
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232114
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
Meta Mutation Damage Score |
0.4875 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,385 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,803 (GRCm39) |
K219R |
probably benign |
Het |
Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
Slc39a10 |
A |
G |
1: 46,858,452 (GRCm39) |
L615P |
possibly damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
Trim30a |
T |
C |
7: 104,070,639 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
Zfyve1 |
A |
G |
12: 83,601,779 (GRCm39) |
F525L |
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 |
|
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 |
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'- ACTGGCACTTCTGGCTTTGG -3'
(R):5'- AATGGAGATGTTCACCTGCC -3'
Sequencing Primer
(F):5'- CACTTCTGGCTTTGGGAAAC -3'
(R):5'- ATGGCCTCAAAGTAGCTGC -3'
|
Posted On |
2019-06-26 |