Incidental Mutation 'R4209:Fezf1'
| ID |
319063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fezf1
|
| Ensembl Gene |
ENSMUSG00000029697 |
| Gene Name |
Fez family zinc finger 1 |
| Synonyms |
3110069A13Rik, Zfp312-like, Fez |
| MMRRC Submission |
041038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23245043-23248361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23246616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 323
(K323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031709]
|
| AlphaFold |
Q0VDQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031709
AA Change: K323E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: K323E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
114 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
260 |
282 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.38e-3 |
SMART |
|
low complexity region
|
441 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202489
|
| Meta Mutation Damage Score |
0.4753 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation of this gene display neonatal lethality, impaired olfactory bulb development and impaired olfactory bulb interneuron migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
| Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
| Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
| Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
| Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,410,809 (GRCm39) |
S378P |
probably benign |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
| Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
| Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably damaging |
Het |
|
| Other mutations in Fezf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Fezf1
|
APN |
6 |
23,247,842 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02538:Fezf1
|
APN |
6 |
23,246,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02983:Fezf1
|
APN |
6 |
23,247,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03372:Fezf1
|
APN |
6 |
23,246,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Fezf1
|
UTSW |
6 |
23,246,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fezf1
|
UTSW |
6 |
23,247,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Fezf1
|
UTSW |
6 |
23,246,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1930:Fezf1
|
UTSW |
6 |
23,246,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Fezf1
|
UTSW |
6 |
23,246,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Fezf1
|
UTSW |
6 |
23,247,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2104:Fezf1
|
UTSW |
6 |
23,247,331 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2233:Fezf1
|
UTSW |
6 |
23,246,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Fezf1
|
UTSW |
6 |
23,247,283 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3950:Fezf1
|
UTSW |
6 |
23,247,419 (GRCm39) |
nonsense |
probably null |
|
|
R4400:Fezf1
|
UTSW |
6 |
23,247,709 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4614:Fezf1
|
UTSW |
6 |
23,247,857 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5287:Fezf1
|
UTSW |
6 |
23,248,010 (GRCm39) |
missense |
probably benign |
|
|
R5878:Fezf1
|
UTSW |
6 |
23,247,580 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5943:Fezf1
|
UTSW |
6 |
23,246,948 (GRCm39) |
nonsense |
probably null |
|
|
R5952:Fezf1
|
UTSW |
6 |
23,247,427 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6663:Fezf1
|
UTSW |
6 |
23,247,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Fezf1
|
UTSW |
6 |
23,245,789 (GRCm39) |
missense |
probably benign |
|
|
R7184:Fezf1
|
UTSW |
6 |
23,247,835 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8679:Fezf1
|
UTSW |
6 |
23,247,769 (GRCm39) |
missense |
probably benign |
|
|
R9137:Fezf1
|
UTSW |
6 |
23,246,511 (GRCm39) |
splice site |
probably benign |
|
|
R9294:Fezf1
|
UTSW |
6 |
23,245,797 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9510:Fezf1
|
UTSW |
6 |
23,247,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9668:Fezf1
|
UTSW |
6 |
23,247,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Fezf1
|
UTSW |
6 |
23,247,908 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGGTAAGCAGGTACAC -3'
(R):5'- TCTTTAGCATAAGACCTTCTGGGC -3'
Sequencing Primer
(F):5'- CTCAGGTAAGCAGGTACACTTTAG -3'
(R):5'- ACCTTCTGGGCTGTGGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation