Incidental Mutation 'R4417:Fez1'
| ID |
326884 |
| 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 |
041138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
36733160-36790220 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 36781768 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 benign
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 benign
Transcript: ENSMUST00000161978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162235
|
| Predicted Effect |
probably benign
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
| Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
| BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
| Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
| Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
| Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
| Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
| Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
| Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
probably damaging |
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 |
|
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'- CCCCATTGATACAGGAAAGCTTAC -3'
(R):5'- GCAGAAATTCTTGCCCCATGC -3'
Sequencing Primer
(F):5'- TGATACAGGAAAGCTTACTTTTGAG -3'
(R):5'- GCCATCCTAAAGAAATCTGGAAACTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation