Incidental Mutation 'R0097:Lzic'
| ID |
17152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lzic
|
| Ensembl Gene |
ENSMUSG00000028990 |
| Gene Name |
leucine zipper and CTNNBIP1 domain containing |
| Synonyms |
1810030J04Rik |
| MMRRC Submission |
038383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R0097 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149569686-149581125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 149572533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 41
(E41G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030842]
[ENSMUST00000030845]
[ENSMUST00000105693]
[ENSMUST00000119921]
[ENSMUST00000124413]
[ENSMUST00000126896]
[ENSMUST00000141293]
[ENSMUST00000229840]
[ENSMUST00000210722]
|
| AlphaFold |
Q8K3C3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030842
AA Change: E41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030842
Gene: ENSMUSG00000028990
AA Change: E41G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
63 |
N/A |
INTRINSIC |
|
Pfam:ICAT
|
113 |
188 |
5.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030845
|
| SMART Domains |
Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
12 |
230 |
2.5e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105693
|
| SMART Domains |
Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
12 |
230 |
9.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119921
|
| SMART Domains |
Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
12 |
140 |
9.8e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122947
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124413
AA Change: E41G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116150
Gene: ENSMUSG00000028990
AA Change: E41G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lxa__
|
11 |
56 |
7e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126896
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141293
AA Change: E41G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119294
Gene: ENSMUSG00000028990
AA Change: E41G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lxa__
|
11 |
61 |
1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210722
|
| Meta Mutation Damage Score |
0.2849 |
| Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
| Validation Efficiency |
86% (56/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
| Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
| Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
| Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
| Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
| Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
| Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
| Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
| T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
| Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lzic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Lzic
|
APN |
4 |
149,577,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01433:Lzic
|
APN |
4 |
149,572,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02480:Lzic
|
APN |
4 |
149,571,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Lzic
|
UTSW |
4 |
149,572,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Lzic
|
UTSW |
4 |
149,571,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Lzic
|
UTSW |
4 |
149,573,185 (GRCm39) |
missense |
probably null |
0.01 |
|
R3831:Lzic
|
UTSW |
4 |
149,573,185 (GRCm39) |
missense |
probably null |
0.01 |
|
R4589:Lzic
|
UTSW |
4 |
149,572,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4929:Lzic
|
UTSW |
4 |
149,572,585 (GRCm39) |
splice site |
probably null |
|
|
R5837:Lzic
|
UTSW |
4 |
149,570,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7126:Lzic
|
UTSW |
4 |
149,573,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8154:Lzic
|
UTSW |
4 |
149,573,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Lzic
|
UTSW |
4 |
149,572,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Lzic
|
UTSW |
4 |
149,573,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Lzic
|
UTSW |
4 |
149,573,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation