Incidental Mutation 'R1345:Lzic'
ID |
156455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lzic
|
Ensembl Gene |
ENSMUSG00000028990 |
Gene Name |
leucine zipper and CTNNBIP1 domain containing |
Synonyms |
1810030J04Rik |
MMRRC Submission |
039410-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R1345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
149569686-149581125 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 149571308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 31
(E31G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030842]
[ENSMUST00000030845]
[ENSMUST00000105693]
[ENSMUST00000119921]
[ENSMUST00000124413]
[ENSMUST00000126896]
[ENSMUST00000141293]
[ENSMUST00000210722]
[ENSMUST00000229840]
|
AlphaFold |
Q8K3C3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030842
AA Change: E31G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030842 Gene: ENSMUSG00000028990 AA Change: E31G
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: E31G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116150 Gene: ENSMUSG00000028990 AA Change: E31G
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: E31G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119294 Gene: ENSMUSG00000028990 AA Change: E31G
Domain | Start | End | E-Value | Type |
SCOP:d1lxa__
|
11 |
61 |
1e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146427
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210722
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229840
|
Meta Mutation Damage Score |
0.2593 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
probably damaging |
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 |
R0097:Lzic
|
UTSW |
4 |
149,572,533 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGTGAGTCAAATCTTTCTGGTCTAA -3'
(R):5'- AGTTTGCTTCTACAAACCAAGTGCTGT -3'
Sequencing Primer
(F):5'- cctcgaactcagaaatctgcc -3'
(R):5'- TGCTGTAAAATACTACAGAAGAGACC -3'
|
Posted On |
2014-02-11 |