Incidental Mutation 'R5618:Fez1'
ID |
439644 |
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 |
043277-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
36733160-36790220 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36755228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 76
(N76Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126072
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034630]
[ENSMUST00000161500]
[ENSMUST00000162633]
[ENSMUST00000163816]
[ENSMUST00000214772]
|
AlphaFold |
Q8K0X8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034630
AA Change: N76Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034630 Gene: ENSMUSG00000032118 AA Change: N76Y
Domain | Start | End | E-Value | Type |
Pfam:FEZ
|
58 |
300 |
3.4e-96 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160041
AA Change: N52Y
|
SMART Domains |
Protein: ENSMUSP00000124648 Gene: ENSMUSG00000032118 AA Change: N52Y
Domain | Start | End | E-Value | Type |
Pfam:FEZ
|
35 |
87 |
4.6e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161500
AA Change: N76Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123762 Gene: ENSMUSG00000032118 AA Change: N76Y
Domain | Start | End | E-Value | Type |
Pfam:FEZ
|
58 |
167 |
5.6e-38 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162633
AA Change: N76Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124634 Gene: ENSMUSG00000032118 AA Change: N76Y
Domain | Start | End | E-Value | Type |
Pfam:FEZ
|
58 |
123 |
6.3e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163816
AA Change: N76Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126072 Gene: ENSMUSG00000032118 AA Change: N76Y
Domain | Start | End | E-Value | Type |
Pfam:FEZ
|
58 |
297 |
2.7e-86 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214772
AA Change: N76Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216539
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
Ift88 |
T |
C |
14: 57,718,965 (GRCm39) |
I650T |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,263 (GRCm39) |
E15V |
possibly damaging |
Het |
Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
Sema7a |
A |
T |
9: 57,867,566 (GRCm39) |
E439D |
possibly damaging |
Het |
Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,199,787 (GRCm39) |
L452F |
probably benign |
Het |
Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
possibly damaging |
Het |
Zfp473 |
T |
A |
7: 44,391,156 (GRCm39) |
D6V |
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 |
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 |
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'- TATCAGGCCCAGTTGCACTG -3'
(R):5'- TGTTAGCTGTTACCGAGGTAC -3'
Sequencing Primer
(F):5'- GTTGCACTGAGGAGCCAG -3'
(R):5'- TTAGTCCAGTCCACGTAAACTCGTAG -3'
|
Posted On |
2016-11-08 |