Incidental Mutation 'R0849:Fezf2'
| ID |
77088 |
| 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 |
039028-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R0849 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
10121574-10127669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12342607 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 419
(K419N)
|
| 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: K419N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: K419N
| 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 benign
Transcript: ENSMUST00000224023
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224714
AA Change: K419N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6390 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
| Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
| Armc9 |
G |
A |
1: 86,184,992 (GRCm39) |
R681K |
probably benign |
Het |
| Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
| B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,769,352 (GRCm39) |
T721A |
probably damaging |
Het |
| Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,644,418 (GRCm39) |
D622V |
probably damaging |
Het |
| Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
| Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
| Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
| Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
| Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
| Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
| Inhca |
A |
C |
9: 103,140,256 (GRCm39) |
Y488D |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
| Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
| Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
| Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
| Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
| Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
| Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
| Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,182,966 (GRCm39) |
I244T |
possibly damaging |
Het |
| Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
probably damaging |
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 |
|
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 |
|
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'- ATCGAGGACACGTTTACATTTCCCC -3'
(R):5'- CAAGCATCGCCTTCTGAGCTACTG -3'
Sequencing Primer
(F):5'- CCCCAAAAATATGCTGGTTTCG -3'
(R):5'- GGGGAGGTCTTATTCCACTACAAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation