Incidental Mutation 'R1280:Fez1'
| ID |
151005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fez1
|
| Ensembl Gene |
ENSMUSG00000032118 |
| Gene Name |
fasciculation and elongation protein zeta 1 |
| Synonyms |
zygin I, UNC76, UNC-76 |
| MMRRC Submission |
039346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1280 (G1)
|
| Quality Score |
138 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36733160-36790220 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GACAAACA to GACA
at 36781845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034630]
[ENSMUST00000162235]
[ENSMUST00000163816]
|
| AlphaFold |
Q8K0X8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034630
|
| SMART Domains |
Protein: ENSMUSP00000034630
Gene: ENSMUSG00000032118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
58 |
300 |
3.4e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160041
|
| SMART Domains |
Protein: ENSMUSP00000124648
Gene: ENSMUSG00000032118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
35 |
87 |
4.6e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161978
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162235
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163816
|
| SMART Domains |
Protein: ENSMUSP00000126072
Gene: ENSMUSG00000032118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
58 |
297 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216539
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| 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. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity and increased sensitivity to methamphetamine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp5mc3 |
G |
T |
2: 73,739,714 (GRCm39) |
T42K |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,333,124 (GRCm39) |
M60V |
possibly damaging |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Cers6 |
G |
A |
2: 68,899,033 (GRCm39) |
V224I |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,289,496 (GRCm39) |
S326F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,871,671 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,787,010 (GRCm39) |
L20Q |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,054,185 (GRCm39) |
Y45C |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,938,749 (GRCm39) |
K508E |
probably damaging |
Het |
| Socs4 |
A |
T |
14: 47,528,370 (GRCm39) |
Q435L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 112,005,842 (GRCm39) |
V905A |
probably damaging |
Het |
| Tekt4 |
T |
A |
17: 25,690,861 (GRCm39) |
W56R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,608,508 (GRCm39) |
I16059N |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,283 (GRCm39) |
V269A |
possibly damaging |
Het |
| Vps54 |
T |
A |
11: 21,227,868 (GRCm39) |
I273N |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,545,852 (GRCm39) |
K1319R |
probably benign |
Het |
|
| Other mutations in Fez1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02540:Fez1
|
APN |
9 |
36,761,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1458:Fez1
|
UTSW |
9 |
36,781,845 (GRCm39) |
frame shift |
probably null |
|
|
R1741:Fez1
|
UTSW |
9 |
36,755,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Fez1
|
UTSW |
9 |
36,779,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Fez1
|
UTSW |
9 |
36,779,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4193:Fez1
|
UTSW |
9 |
36,755,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Fez1
|
UTSW |
9 |
36,781,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4417:Fez1
|
UTSW |
9 |
36,781,768 (GRCm39) |
splice site |
probably benign |
|
|
R4696:Fez1
|
UTSW |
9 |
36,781,766 (GRCm39) |
splice site |
probably null |
|
|
R4735:Fez1
|
UTSW |
9 |
36,772,141 (GRCm39) |
nonsense |
probably null |
|
|
R4947:Fez1
|
UTSW |
9 |
36,780,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4950:Fez1
|
UTSW |
9 |
36,779,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Fez1
|
UTSW |
9 |
36,780,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Fez1
|
UTSW |
9 |
36,755,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Fez1
|
UTSW |
9 |
36,761,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7089:Fez1
|
UTSW |
9 |
36,778,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Fez1
|
UTSW |
9 |
36,779,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Fez1
|
UTSW |
9 |
36,779,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7653:Fez1
|
UTSW |
9 |
36,772,146 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7662:Fez1
|
UTSW |
9 |
36,781,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Fez1
|
UTSW |
9 |
36,755,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Fez1
|
UTSW |
9 |
36,787,605 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9414:Fez1
|
UTSW |
9 |
36,779,247 (GRCm39) |
missense |
probably benign |
|
|
R9484:Fez1
|
UTSW |
9 |
36,755,093 (GRCm39) |
missense |
probably benign |
|
|
R9549:Fez1
|
UTSW |
9 |
36,780,211 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Fez1
|
UTSW |
9 |
36,779,055 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCCCAGCTATCATTCAGGAG -3'
(R):5'- TCTTGCCCCATGCAAAGCCATC -3'
Sequencing Primer
(F):5'- GTTTCCCCCATTGATACAGGAAAG -3'
(R):5'- GCCATCCTAAAGAAATCTGGAAACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation