Incidental Mutation 'R4023:Fezf2'
ID |
313363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fezf2
|
Ensembl Gene |
ENSMUSG00000021743 |
Gene Name |
Fez family zinc finger 2 |
Synonyms |
Fez, forebrain embryonic zinc finger, Zfp312, Fezl |
MMRRC Submission |
040957-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.841)
|
Stock # |
R4023 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
10121574-10127669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12343986 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 302
(C302S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022262]
[ENSMUST00000224023]
[ENSMUST00000224714]
|
AlphaFold |
Q9ESP5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022262
AA Change: C302S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022262 Gene: ENSMUSG00000021743 AA Change: C302S
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
low complexity region
|
101 |
120 |
N/A |
INTRINSIC |
ZnF_C2H2
|
272 |
294 |
1.58e-3 |
SMART |
ZnF_C2H2
|
300 |
322 |
3.39e-3 |
SMART |
ZnF_C2H2
|
328 |
350 |
2.79e-4 |
SMART |
ZnF_C2H2
|
356 |
378 |
2.57e-3 |
SMART |
ZnF_C2H2
|
384 |
406 |
1.45e-2 |
SMART |
ZnF_C2H2
|
412 |
435 |
1.92e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224023
AA Change: C302S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224714
AA Change: C302S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.9643 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show hyperactivity, altered feeding behavior leading to delayed growth and premature death, and impaired formation of subplate neurons and thalamocortical projections. Homozygotes for another allele lack a corpus callosum and show severe subcortical projection defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
Acad8 |
T |
C |
9: 26,890,481 (GRCm39) |
I276V |
probably benign |
Het |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Depdc1a |
G |
A |
3: 159,221,786 (GRCm39) |
|
probably null |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
Or8c17 |
G |
A |
9: 38,180,757 (GRCm39) |
C308Y |
possibly damaging |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,588,727 (GRCm39) |
T28A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
probably benign |
Het |
|
Other mutations in Fezf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01895:Fezf2
|
APN |
14 |
12,342,498 (GRCm38) |
makesense |
probably null |
|
IGL02008:Fezf2
|
APN |
14 |
12,343,705 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02238:Fezf2
|
APN |
14 |
12,344,494 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02428:Fezf2
|
APN |
14 |
12,344,494 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02588:Fezf2
|
APN |
14 |
12,343,687 (GRCm38) |
missense |
probably damaging |
1.00 |
K3955:Fezf2
|
UTSW |
14 |
12,345,097 (GRCm38) |
missense |
probably damaging |
1.00 |
R0266:Fezf2
|
UTSW |
14 |
12,342,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R0281:Fezf2
|
UTSW |
14 |
12,343,977 (GRCm38) |
missense |
probably damaging |
1.00 |
R0849:Fezf2
|
UTSW |
14 |
12,342,607 (GRCm38) |
missense |
probably damaging |
1.00 |
R1061:Fezf2
|
UTSW |
14 |
12,342,713 (GRCm38) |
missense |
probably damaging |
1.00 |
R1107:Fezf2
|
UTSW |
14 |
12,342,624 (GRCm38) |
missense |
probably damaging |
1.00 |
R1326:Fezf2
|
UTSW |
14 |
12,342,644 (GRCm38) |
missense |
probably benign |
0.12 |
R1914:Fezf2
|
UTSW |
14 |
12,343,988 (GRCm38) |
missense |
probably damaging |
1.00 |
R1955:Fezf2
|
UTSW |
14 |
12,342,644 (GRCm38) |
missense |
probably benign |
0.12 |
R1980:Fezf2
|
UTSW |
14 |
12,344,405 (GRCm38) |
missense |
probably benign |
0.04 |
R1981:Fezf2
|
UTSW |
14 |
12,344,405 (GRCm38) |
missense |
probably benign |
0.04 |
R1982:Fezf2
|
UTSW |
14 |
12,344,405 (GRCm38) |
missense |
probably benign |
0.04 |
R1988:Fezf2
|
UTSW |
14 |
12,344,350 (GRCm38) |
missense |
probably damaging |
0.98 |
R4025:Fezf2
|
UTSW |
14 |
12,343,986 (GRCm38) |
missense |
probably damaging |
1.00 |
R4026:Fezf2
|
UTSW |
14 |
12,343,986 (GRCm38) |
missense |
probably damaging |
1.00 |
R5373:Fezf2
|
UTSW |
14 |
12,344,803 (GRCm38) |
missense |
possibly damaging |
0.67 |
R6982:Fezf2
|
UTSW |
14 |
12,343,645 (GRCm38) |
missense |
probably damaging |
1.00 |
R7650:Fezf2
|
UTSW |
14 |
12,342,653 (GRCm38) |
missense |
probably damaging |
0.97 |
R7677:Fezf2
|
UTSW |
14 |
12,344,941 (GRCm38) |
missense |
probably benign |
0.38 |
R7898:Fezf2
|
UTSW |
14 |
12,342,701 (GRCm38) |
missense |
possibly damaging |
0.82 |
R8842:Fezf2
|
UTSW |
14 |
12,345,079 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1177:Fezf2
|
UTSW |
14 |
12,344,765 (GRCm38) |
missense |
probably benign |
0.19 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCGCACTGGTTACACTTATG -3'
(R):5'- ACTTGCTGGCTTCAGATGG -3'
Sequencing Primer
(F):5'- TTTCCTGCGAAGAGGGGC -3'
(R):5'- CTGGCTTCAGATGGGATGG -3'
|
Posted On |
2015-04-30 |