Incidental Mutation 'IGL00484:Lztr1'
| ID |
3999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00484
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 17335314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000232372]
[ENSMUST00000232242]
[ENSMUST00000231994]
[ENSMUST00000231307]
[ENSMUST00000231292]
|
| 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 |
|
| 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: ENSMUST00000132953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231292
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
A |
G |
7: 139,455,860 (GRCm39) |
Q496R |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,416,220 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,504,328 (GRCm39) |
K330R |
probably benign |
Het |
| Anln |
A |
T |
9: 22,272,120 (GRCm39) |
Y666* |
probably null |
Het |
| Atp1a2 |
A |
G |
1: 172,103,569 (GRCm39) |
W984R |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,361,998 (GRCm39) |
|
probably benign |
Het |
| Casc3 |
A |
G |
11: 98,714,028 (GRCm39) |
E420G |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,833,249 (GRCm39) |
D1724N |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,324,154 (GRCm39) |
E379D |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,748,260 (GRCm39) |
|
probably benign |
Het |
| Exph5 |
C |
T |
9: 53,288,006 (GRCm39) |
Q1696* |
probably null |
Het |
| Fkbp6 |
C |
A |
5: 135,368,802 (GRCm39) |
A213S |
possibly damaging |
Het |
| Fndc4 |
A |
G |
5: 31,450,840 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,169 (GRCm39) |
|
probably null |
Het |
| H2ac22 |
G |
T |
13: 21,971,091 (GRCm39) |
R100S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,649,175 (GRCm39) |
|
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,329 (GRCm39) |
T97I |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,297,132 (GRCm39) |
S407G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,873 (GRCm39) |
Y2231C |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,884,188 (GRCm39) |
S2999T |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,867 (GRCm39) |
V972A |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,128 (GRCm39) |
S1725R |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,638,272 (GRCm39) |
V396A |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,191,737 (GRCm39) |
Q1074R |
probably damaging |
Het |
| Pard3 |
T |
C |
8: 128,098,327 (GRCm39) |
V456A |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,096,952 (GRCm39) |
V114E |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,487,482 (GRCm39) |
|
probably benign |
Het |
| Pik3r1 |
A |
C |
13: 101,838,255 (GRCm39) |
I267S |
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,816 (GRCm39) |
I1493T |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Pramel28 |
G |
A |
4: 143,693,184 (GRCm39) |
|
probably benign |
Het |
| Prg3 |
A |
G |
2: 84,819,091 (GRCm39) |
I6V |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,215,220 (GRCm38) |
V1069A |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,001,745 (GRCm39) |
|
probably null |
Het |
| Slc36a2 |
A |
T |
11: 55,053,614 (GRCm39) |
Y341* |
probably null |
Het |
| Snapc3 |
A |
G |
4: 83,354,633 (GRCm39) |
I215V |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,492 (GRCm39) |
S1475T |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,141 (GRCm39) |
D414E |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,623,520 (GRCm39) |
T468A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,213,105 (GRCm39) |
T310A |
probably benign |
Het |
| Tgfbr2 |
T |
A |
9: 115,987,357 (GRCm39) |
I51F |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,851,570 (GRCm39) |
C546* |
probably null |
Het |
| Ttbk2 |
C |
T |
2: 120,604,367 (GRCm39) |
W210* |
probably null |
Het |
| Upk1b |
T |
G |
16: 38,600,378 (GRCm39) |
N201H |
possibly damaging |
Het |
| Uqcc5 |
T |
A |
14: 30,810,879 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,514,710 (GRCm39) |
T3180S |
probably benign |
Het |
| Vps13d |
T |
G |
4: 144,853,145 (GRCm39) |
Q2323P |
probably benign |
Het |
| Zfp810 |
A |
T |
9: 22,189,605 (GRCm39) |
Y434* |
probably null |
Het |
|
| Other mutations in Lztr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation