Incidental Mutation 'R4025:Fezf2'
| ID |
313460 |
| 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 |
040958-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.841)
|
| Stock # |
R4025 (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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,905 (GRCm39) |
S121P |
probably benign |
Het |
| Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
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 |
| Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
| Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
| Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
| Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,035,808 (GRCm39) |
T121A |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,040 (GRCm39) |
N276I |
probably damaging |
Het |
| Spag7 |
C |
A |
11: 70,555,300 (GRCm39) |
E130D |
probably damaging |
Het |
| Spns1 |
A |
T |
7: 125,976,118 (GRCm39) |
C28* |
probably null |
Het |
| Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
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 |
| Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
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 |
|
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'- GACTTGCTGGCTTCAGATGG -3'
Sequencing Primer
(F):5'- TTTCCTGCGAAGAGGGGC -3'
(R):5'- CTGGCTTCAGATGGGATGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation