Incidental Mutation 'R5742:Fez1'
| ID |
501480 |
| 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 |
043352-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36733160-36790220 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 36761743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034630]
[ENSMUST00000161500]
[ENSMUST00000162633]
[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 |
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: ENSMUST00000161500
|
| SMART Domains |
Protein: ENSMUSP00000123762
Gene: ENSMUSG00000032118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
58 |
167 |
5.6e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162633
|
| SMART Domains |
Protein: ENSMUSP00000124634
Gene: ENSMUSG00000032118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
58 |
123 |
6.3e-29 |
PFAM |
|
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
| Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
| Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
| Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
| Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
| Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
| Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
| Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
| Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
| Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
| Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
| Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
| Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
| Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
probably null |
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 |
|
R1280:Fez1
|
UTSW |
9 |
36,781,845 (GRCm39) |
frame shift |
probably null |
|
|
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 |
|
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'- TGGAAGGCAGATGACCTCAG -3'
(R):5'- ACACACTGAGTTTCCTTCCAAC -3'
Sequencing Primer
(F):5'- AGATGACCTCAGCCTGGCAC -3'
(R):5'- ACACTGAGTTTCCTTCCAACCTTATG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation