Incidental Mutation 'R3686:Zfp446'
ID |
269522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp446
|
Ensembl Gene |
ENSMUSG00000033961 |
Gene Name |
zinc finger protein 446 |
Synonyms |
A630035I11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R3686 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12711726-12718323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12716580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 517
(I517N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045810]
[ENSMUST00000108535]
[ENSMUST00000108536]
[ENSMUST00000108537]
|
AlphaFold |
Q8C9M8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045810
AA Change: I517N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000039073 Gene: ENSMUSG00000033961 AA Change: I517N
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
79 |
N/A |
INTRINSIC |
SCAN
|
122 |
234 |
1.29e-53 |
SMART |
KRAB
|
299 |
360 |
3.96e-2 |
SMART |
ZnF_C2H2
|
419 |
441 |
2.95e-3 |
SMART |
ZnF_C2H2
|
468 |
490 |
8.47e-4 |
SMART |
ZnF_C2H2
|
496 |
518 |
5.34e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108535
|
SMART Domains |
Protein: ENSMUSP00000104175 Gene: ENSMUSG00000033961
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
134 |
1.29e-53 |
SMART |
KRAB
|
199 |
254 |
1.14e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108536
AA Change: I417N
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104176 Gene: ENSMUSG00000033961 AA Change: I417N
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
134 |
1.29e-53 |
SMART |
KRAB
|
199 |
260 |
3.96e-2 |
SMART |
ZnF_C2H2
|
319 |
341 |
2.95e-3 |
SMART |
ZnF_C2H2
|
368 |
390 |
8.47e-4 |
SMART |
ZnF_C2H2
|
396 |
418 |
5.34e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108537
AA Change: I342N
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104177 Gene: ENSMUSG00000033961 AA Change: I342N
Domain | Start | End | E-Value | Type |
SCAN
|
22 |
128 |
7.37e-49 |
SMART |
KRAB
|
124 |
185 |
3.96e-2 |
SMART |
ZnF_C2H2
|
244 |
266 |
2.95e-3 |
SMART |
ZnF_C2H2
|
293 |
315 |
8.47e-4 |
SMART |
ZnF_C2H2
|
321 |
343 |
5.34e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147996
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb16 |
T |
A |
11: 102,159,885 (GRCm39) |
D79E |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
B3galnt2 |
G |
A |
13: 14,150,220 (GRCm39) |
|
probably null |
Het |
Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,349,916 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,422,160 (GRCm39) |
S95P |
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,494,748 (GRCm39) |
E919K |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
Hsp90ab1 |
A |
G |
17: 45,880,214 (GRCm39) |
Y110H |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,890,425 (GRCm39) |
V1258A |
probably damaging |
Het |
Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
Nmd3 |
C |
T |
3: 69,654,095 (GRCm39) |
R413C |
probably damaging |
Het |
Or4k51 |
G |
T |
2: 111,584,914 (GRCm39) |
V107F |
probably benign |
Het |
Or56b2 |
A |
G |
7: 104,337,599 (GRCm39) |
I126V |
probably benign |
Het |
Pgm3 |
G |
T |
9: 86,441,563 (GRCm39) |
P345T |
probably benign |
Het |
Ptpn14 |
C |
A |
1: 189,583,596 (GRCm39) |
D814E |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,021,912 (GRCm39) |
V624E |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,384,361 (GRCm39) |
K212E |
probably benign |
Het |
Shisa2 |
T |
A |
14: 59,867,228 (GRCm39) |
L160Q |
probably damaging |
Het |
Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,177 (GRCm39) |
T762A |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,471,959 (GRCm39) |
K534E |
possibly damaging |
Het |
Trdn |
A |
T |
10: 33,344,185 (GRCm39) |
D633V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,747,333 (GRCm39) |
Y4572C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,054,920 (GRCm39) |
N921K |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,644,397 (GRCm39) |
V671A |
probably damaging |
Het |
Wdr86 |
T |
A |
5: 24,923,339 (GRCm39) |
T118S |
probably damaging |
Het |
Zfp830 |
G |
A |
11: 82,656,188 (GRCm39) |
E331K |
possibly damaging |
Het |
|
Other mutations in Zfp446 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01486:Zfp446
|
APN |
7 |
12,713,307 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01534:Zfp446
|
APN |
7 |
12,713,493 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02471:Zfp446
|
APN |
7 |
12,716,181 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02888:Zfp446
|
APN |
7 |
12,713,255 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03153:Zfp446
|
APN |
7 |
12,711,834 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03185:Zfp446
|
APN |
7 |
12,712,925 (GRCm39) |
missense |
probably null |
0.43 |
IGL03242:Zfp446
|
APN |
7 |
12,713,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Zfp446
|
UTSW |
7 |
12,713,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1809:Zfp446
|
UTSW |
7 |
12,713,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R3701:Zfp446
|
UTSW |
7 |
12,712,079 (GRCm39) |
unclassified |
probably benign |
|
R5256:Zfp446
|
UTSW |
7 |
12,713,231 (GRCm39) |
nonsense |
probably null |
|
R5363:Zfp446
|
UTSW |
7 |
12,711,984 (GRCm39) |
missense |
probably benign |
0.20 |
R5377:Zfp446
|
UTSW |
7 |
12,716,178 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6806:Zfp446
|
UTSW |
7 |
12,713,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7167:Zfp446
|
UTSW |
7 |
12,712,049 (GRCm39) |
unclassified |
probably benign |
|
R7988:Zfp446
|
UTSW |
7 |
12,712,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8288:Zfp446
|
UTSW |
7 |
12,711,885 (GRCm39) |
missense |
probably benign |
0.00 |
R8487:Zfp446
|
UTSW |
7 |
12,716,555 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8943:Zfp446
|
UTSW |
7 |
12,713,564 (GRCm39) |
nonsense |
probably null |
|
R9315:Zfp446
|
UTSW |
7 |
12,713,397 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Zfp446
|
UTSW |
7 |
12,712,093 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGAGACCATCACAGGTG -3'
(R):5'- AAGGGACTAGCCTCTTCTCCTTAC -3'
Sequencing Primer
(F):5'- ACCATCACAGGTGGCCCG -3'
(R):5'- CTCCTTACACTGGATAGTCTGGTG -3'
|
Posted On |
2015-02-19 |