Incidental Mutation 'R3935:Lztr1'
| ID |
307149 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 17340059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 93
(Y93*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000142259]
[ENSMUST00000232372]
[ENSMUST00000231292]
[ENSMUST00000231307]
[ENSMUST00000231994]
|
| AlphaFold |
Q9CQ33 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023444
AA Change: Y430*
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: Y430*
| 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 null
Transcript: ENSMUST00000115681
AA Change: Y430*
|
| SMART Domains |
Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
AA Change: Y430*
| 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: ENSMUST00000134618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142222
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142259
AA Change: Y93*
|
| SMART Domains |
Protein: ENSMUSP00000118569
Gene: ENSMUSG00000022761
AA Change: Y93*
| 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: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231746
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231292
AA Change: Y411*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231230
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231307
AA Change: Y93*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
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 |
|
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 |
|
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'- TAAAGTGGTAGGCCCTCATGG -3'
(R):5'- TTGCAGTGACGATGGCAAC -3'
Sequencing Primer
(F):5'- TCATGGTCATGGCCAGAGCAG -3'
(R):5'- GCAACATGGCCTTGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation