Incidental Mutation 'R4950:Fez1'
| ID |
381925 |
| 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 |
042547-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
36733160-36790220 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36779178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 285
(R285Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034630]
[ENSMUST00000161500]
[ENSMUST00000162235]
[ENSMUST00000163816]
|
| AlphaFold |
Q8K0X8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034630
AA Change: R285Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034630
Gene: ENSMUSG00000032118
AA Change: R285Q
| 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: 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: ENSMUST00000161978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162235
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163816
AA Change: R285Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126072
Gene: ENSMUSG00000032118
AA Change: R285Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FEZ
|
58 |
297 |
2.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216539
|
| Meta Mutation Damage Score |
0.3754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,822,711 (GRCm39) |
I887L |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
| Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,768,377 (GRCm39) |
I186F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,730 (GRCm39) |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,106,485 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
| Tlr2 |
C |
A |
3: 83,744,639 (GRCm39) |
E481D |
probably damaging |
Het |
| Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
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 |
|
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'- ACACATGTCTGGGTCTGAGC -3'
(R):5'- CATTGCCCTGTCACAAAGTTC -3'
Sequencing Primer
(F):5'- CTGGGTCTGAGCTGACAGAG -3'
(R):5'- CAGTAACTGTTTCGGGGTCCAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation