Incidental Mutation 'IGL02898:Fez2'
| ID |
363478 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fez2
|
| Ensembl Gene |
ENSMUSG00000056121 |
| Gene Name |
fasciculation and elongation protein zeta 2 |
| Synonyms |
D17Ertd315e, zygin 2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78676641-78725581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78692184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 345
(I345T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070039]
[ENSMUST00000112487]
|
| AlphaFold |
Q6TYB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070039
AA Change: I318T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000068987
Gene: ENSMUSG00000056121
AA Change: I318T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
42 |
284 |
7.2e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112487
AA Change: I345T
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108106
Gene: ENSMUSG00000056121
AA Change: I345T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
42 |
281 |
2.2e-96 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably damaging |
Het |
|
| Other mutations in Fez2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Fez2
|
APN |
17 |
78,689,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL01633:Fez2
|
APN |
17 |
78,712,147 (GRCm39) |
splice site |
probably benign |
|
|
IGL02043:Fez2
|
APN |
17 |
78,689,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Fez2
|
UTSW |
17 |
78,725,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Fez2
|
UTSW |
17 |
78,692,261 (GRCm39) |
splice site |
probably benign |
|
|
R0753:Fez2
|
UTSW |
17 |
78,708,115 (GRCm39) |
small deletion |
probably benign |
|
|
R4629:Fez2
|
UTSW |
17 |
78,710,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4646:Fez2
|
UTSW |
17 |
78,720,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Fez2
|
UTSW |
17 |
78,694,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Fez2
|
UTSW |
17 |
78,694,482 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8491:Fez2
|
UTSW |
17 |
78,692,200 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8881:Fez2
|
UTSW |
17 |
78,689,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9675:Fez2
|
UTSW |
17 |
78,686,169 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9775:Fez2
|
UTSW |
17 |
78,708,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation