Incidental Mutation 'R7420:Lztr1'
| ID |
575633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lztr1
|
| Ensembl Gene |
ENSMUSG00000022761 |
| Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
| Synonyms |
TCFL2, 1200003E21Rik |
| MMRRC Submission |
045498-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17341993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 656
(L656P)
|
| 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 |
probably damaging
Transcript: ENSMUST00000023444
AA Change: L656P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: L656P
| 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 |
probably damaging
Transcript: ENSMUST00000231292
AA Change: L637P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231307
AA Change: L319P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,141,303 (GRCm39) |
V6A |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,209,378 (GRCm39) |
T274I |
probably benign |
Het |
| Atad5 |
A |
T |
11: 79,986,688 (GRCm39) |
T592S |
probably benign |
Het |
| Bud13 |
C |
T |
9: 46,199,113 (GRCm39) |
P158L |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,361,613 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cd36 |
C |
G |
5: 17,993,272 (GRCm39) |
V393L |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,596,971 (GRCm39) |
R9* |
probably null |
Het |
| Cep164 |
T |
C |
9: 45,679,840 (GRCm39) |
H1131R |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,037,980 (GRCm39) |
S321T |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,122,543 (GRCm39) |
V217E |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,462 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
T |
C |
5: 87,927,865 (GRCm39) |
S60P |
possibly damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,369,623 (GRCm39) |
A1618T |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,008,233 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,100,687 (GRCm39) |
T546S |
possibly damaging |
Het |
| Fam135a |
A |
G |
1: 24,051,567 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,627,664 (GRCm39) |
P179Q |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,868,431 (GRCm39) |
T647A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,669 (GRCm39) |
N1494S |
probably benign |
Het |
| Gm4952 |
G |
A |
19: 12,604,265 (GRCm39) |
G226R |
probably damaging |
Het |
| Gm5460 |
T |
A |
14: 33,758,714 (GRCm39) |
F156I |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,115,909 (GRCm39) |
V849D |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,292,005 (GRCm39) |
D111G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,105,761 (GRCm39) |
D895G |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kdm5b |
T |
C |
1: 134,532,235 (GRCm39) |
V471A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,317 (GRCm39) |
Y239H |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,454,022 (GRCm39) |
T229A |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,504,451 (GRCm39) |
S2506T |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,013,773 (GRCm39) |
|
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,739 (GRCm39) |
S497P |
probably benign |
Het |
| Or2ag1b |
G |
A |
7: 106,288,227 (GRCm39) |
A237V |
possibly damaging |
Het |
| Or8b44 |
G |
T |
9: 38,410,359 (GRCm39) |
L131F |
probably benign |
Het |
| Otud4 |
C |
A |
8: 80,390,737 (GRCm39) |
T418K |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,256 (GRCm39) |
N462D |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,278 (GRCm39) |
S497P |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,507 (GRCm39) |
F121L |
probably null |
Het |
| Prxl2c |
C |
T |
13: 64,445,131 (GRCm39) |
G164D |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,453,596 (GRCm39) |
A64V |
possibly damaging |
Het |
| Selenop |
G |
T |
15: 3,309,052 (GRCm39) |
A335S |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,271 (GRCm39) |
N448S |
probably benign |
Het |
| Shcbp1 |
G |
A |
8: 4,798,737 (GRCm39) |
T394I |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,138,648 (GRCm39) |
A276E |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Speg |
T |
A |
1: 75,407,549 (GRCm39) |
S3185R |
probably damaging |
Het |
| Tmem100 |
A |
T |
11: 89,926,579 (GRCm39) |
*135Y |
probably null |
Het |
| Ube2o |
A |
T |
11: 116,430,898 (GRCm39) |
F1001I |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,527,985 (GRCm39) |
D148G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,736 (GRCm39) |
T648A |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,944 (GRCm39) |
L687P |
possibly damaging |
Het |
| Zcchc14 |
ACCGCCGCCGCCGCCGCC |
ACCGCCGCCGCCGCC |
8: 122,378,530 (GRCm39) |
|
probably benign |
Het |
| Zfp800 |
A |
G |
6: 28,243,718 (GRCm39) |
S416P |
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 |
|
R7222:Lztr1
|
UTSW |
16 |
17,341,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- CAATGGAGATGTTCACCTGCCC -3'
Sequencing Primer
(F):5'- CACTTCTGGCTTTGGGAAAC -3'
(R):5'- ATGGCCTCAAAGTAGCTGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation