Incidental Mutation 'R4026:Fezf2'
| ID |
312999 |
| 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 |
040849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R4026 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
97% (36/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,988,663 (GRCm39) |
V3316F |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,791,666 (GRCm39) |
M698T |
probably benign |
Het |
| Ces2g |
T |
A |
8: 105,691,377 (GRCm39) |
V171E |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,325,563 (GRCm39) |
S642N |
unknown |
Het |
| Gm10754 |
A |
G |
10: 97,517,978 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
G |
A |
6: 131,144,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7929 |
T |
C |
14: 41,472,509 (GRCm39) |
K21E |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,598,120 (GRCm39) |
D1727E |
probably benign |
Het |
| Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
| Micu3 |
A |
G |
8: 40,812,496 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
C |
9: 104,948,685 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,295 (GRCm39) |
I265V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,598,720 (GRCm39) |
T68A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,668,908 (GRCm39) |
V118A |
probably benign |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Srsf6 |
T |
A |
2: 162,776,211 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,301 (GRCm39) |
E650K |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trav4-2 |
T |
A |
14: 53,656,287 (GRCm39) |
D96E |
possibly damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,500 (GRCm39) |
M1T |
probably null |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,577,721 (GRCm39) |
S1131P |
possibly damaging |
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 |
|
R4023:Fezf2
|
UTSW |
14 |
12,343,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4025: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 |
Incidental Mutation