Incidental Mutation 'R9435:Zfp280d'
| ID |
713235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp280d
|
| Ensembl Gene |
ENSMUSG00000038535 |
| Gene Name |
zinc finger protein 280D |
| Synonyms |
Suhw4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R9435 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 72226599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184399]
[ENSMUST00000184517]
|
| AlphaFold |
Q68FE8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098576
|
| SMART Domains |
Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
241 |
6.8e-82 |
PFAM |
|
ZnF_C2H2
|
252 |
272 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
370 |
393 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
430 |
453 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.41e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
3.38e1 |
SMART |
|
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
611 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
656 |
679 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
702 |
726 |
1.34e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183410
|
| SMART Domains |
Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
242 |
4.1e-98 |
PFAM |
|
ZnF_C2H2
|
252 |
272 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
370 |
393 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
430 |
453 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.41e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
3.38e1 |
SMART |
|
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
611 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
656 |
679 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
702 |
726 |
1.34e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183801
|
| SMART Domains |
Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
242 |
1.9e-98 |
PFAM |
|
ZnF_C2H2
|
252 |
272 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
370 |
393 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
430 |
453 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.41e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
3.38e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184036
|
| SMART Domains |
Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
32 |
217 |
5.5e-98 |
PFAM |
|
ZnF_C2H2
|
227 |
247 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
308 |
330 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
345 |
368 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
375 |
398 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
405 |
428 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
2.41e1 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
3.38e1 |
SMART |
|
low complexity region
|
514 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
586 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
631 |
654 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
677 |
701 |
1.34e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184053
|
| SMART Domains |
Protein: ENSMUSP00000138848
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
147 |
1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184399
|
| SMART Domains |
Protein: ENSMUSP00000138902
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
103 |
4.8e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184517
|
| SMART Domains |
Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
|
Pfam:DUF4195
|
57 |
242 |
2.2e-98 |
PFAM |
|
ZnF_C2H2
|
252 |
272 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
370 |
393 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
430 |
453 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.41e1 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
3.38e1 |
SMART |
|
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
611 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
656 |
679 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
702 |
726 |
1.34e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184786
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185020
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,562 (GRCm39) |
D1134E |
probably benign |
Het |
| Abca5 |
C |
T |
11: 110,182,911 (GRCm39) |
|
probably null |
Het |
| Acp2 |
A |
G |
2: 91,036,409 (GRCm39) |
T169A |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,622,429 (GRCm39) |
N932K |
probably benign |
Het |
| Aldh5a1 |
G |
A |
13: 25,121,293 (GRCm39) |
R87C |
probably damaging |
Het |
| Bpifa1 |
G |
T |
2: 153,985,843 (GRCm39) |
A53S |
unknown |
Het |
| Cacna2d2 |
T |
C |
9: 107,396,384 (GRCm39) |
I667T |
probably benign |
Het |
| Catsperg1 |
T |
A |
7: 28,889,751 (GRCm39) |
T784S |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Cd46 |
C |
G |
1: 194,767,720 (GRCm39) |
D114H |
probably damaging |
Het |
| Cd82 |
A |
T |
2: 93,267,740 (GRCm39) |
L19Q |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,806,535 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,885 (GRCm39) |
I180T |
possibly damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,966 (GRCm39) |
V362A |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,014,994 (GRCm39) |
M231K |
probably benign |
Het |
| Egr2 |
T |
C |
10: 67,375,628 (GRCm39) |
Y75H |
probably damaging |
Het |
| Exoc6 |
A |
C |
19: 37,585,545 (GRCm39) |
Q473H |
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,076 (GRCm39) |
M1029K |
unknown |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,391 (GRCm39) |
S133T |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,268,432 (GRCm39) |
V1322A |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,752,966 (GRCm39) |
S282P |
possibly damaging |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
C |
3: 95,496,369 (GRCm39) |
V31A |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,034,913 (GRCm39) |
V610D |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,666,472 (GRCm39) |
I203F |
probably damaging |
Het |
| Ildr2 |
A |
G |
1: 166,136,691 (GRCm39) |
Y510C |
probably damaging |
Het |
| Iqcf4 |
C |
A |
9: 106,445,652 (GRCm39) |
R165L |
possibly damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,320,943 (GRCm39) |
I183L |
possibly damaging |
Het |
| Itgb4 |
A |
C |
11: 115,895,855 (GRCm39) |
S1414R |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,664,944 (GRCm39) |
A259S |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,401,174 (GRCm39) |
D508E |
possibly damaging |
Het |
| Klc2 |
A |
T |
19: 5,159,662 (GRCm39) |
D484E |
possibly damaging |
Het |
| Lamc2 |
T |
C |
1: 153,013,072 (GRCm39) |
S630G |
probably benign |
Het |
| Myl6b |
G |
A |
10: 128,331,066 (GRCm39) |
T125M |
possibly damaging |
Het |
| Nbea |
T |
A |
3: 55,943,309 (GRCm39) |
K655N |
possibly damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,493 (GRCm39) |
D165G |
probably benign |
Het |
| Npy |
A |
T |
6: 49,804,481 (GRCm39) |
R67S |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 39,194,556 (GRCm39) |
C68S |
possibly damaging |
Het |
| Nup160 |
C |
T |
2: 90,560,138 (GRCm39) |
P1288S |
probably damaging |
Het |
| Or52e15 |
T |
C |
7: 104,645,946 (GRCm39) |
H55R |
probably benign |
Het |
| Or8g33 |
A |
G |
9: 39,337,506 (GRCm39) |
L287P |
probably benign |
Het |
| Pam |
T |
A |
1: 97,822,144 (GRCm39) |
I287L |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,165,387 (GRCm39) |
R490G |
probably benign |
Het |
| Prim2 |
T |
C |
1: 33,523,876 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,721,646 (GRCm39) |
A173V |
probably benign |
Het |
| Rab8b |
G |
A |
9: 66,755,912 (GRCm39) |
R167W |
probably damaging |
Het |
| S100a3 |
A |
G |
3: 90,509,502 (GRCm39) |
E49G |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,766,896 (GRCm39) |
V138E |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,591,764 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
A |
1: 8,433,814 (GRCm39) |
H479L |
probably damaging |
Het |
| Stam |
T |
A |
2: 14,120,801 (GRCm39) |
C72S |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,840,795 (GRCm39) |
A93S |
probably benign |
Het |
| Tas2r103 |
T |
A |
6: 133,013,686 (GRCm39) |
K127* |
probably null |
Het |
| Trank1 |
C |
T |
9: 111,193,890 (GRCm39) |
T638M |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,519,173 (GRCm39) |
I2260F |
probably damaging |
Het |
| Zfp268 |
G |
C |
4: 145,349,045 (GRCm39) |
E161Q |
|
Het |
|
| Other mutations in Zfp280d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Zfp280d
|
APN |
9 |
72,229,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00708:Zfp280d
|
APN |
9 |
72,219,417 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01333:Zfp280d
|
APN |
9 |
72,242,396 (GRCm39) |
splice site |
probably benign |
|
|
IGL01453:Zfp280d
|
APN |
9 |
72,229,868 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02472:Zfp280d
|
APN |
9 |
72,208,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Zfp280d
|
APN |
9 |
72,229,727 (GRCm39) |
splice site |
probably benign |
|
|
IGL02608:Zfp280d
|
APN |
9 |
72,215,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02675:Zfp280d
|
APN |
9 |
72,219,504 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02676:Zfp280d
|
APN |
9 |
72,242,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Zfp280d
|
APN |
9 |
72,203,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03076:Zfp280d
|
APN |
9 |
72,219,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0017:Zfp280d
|
UTSW |
9 |
72,246,292 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0017:Zfp280d
|
UTSW |
9 |
72,246,292 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0288:Zfp280d
|
UTSW |
9 |
72,238,621 (GRCm39) |
nonsense |
probably null |
|
|
R0419:Zfp280d
|
UTSW |
9 |
72,219,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0540:Zfp280d
|
UTSW |
9 |
72,215,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0628:Zfp280d
|
UTSW |
9 |
72,269,230 (GRCm39) |
missense |
probably benign |
|
|
R0722:Zfp280d
|
UTSW |
9 |
72,219,383 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1055:Zfp280d
|
UTSW |
9 |
72,236,449 (GRCm39) |
splice site |
probably null |
|
|
R1786:Zfp280d
|
UTSW |
9 |
72,215,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Zfp280d
|
UTSW |
9 |
72,206,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Zfp280d
|
UTSW |
9 |
72,242,362 (GRCm39) |
nonsense |
probably null |
|
|
R2130:Zfp280d
|
UTSW |
9 |
72,215,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Zfp280d
|
UTSW |
9 |
72,215,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Zfp280d
|
UTSW |
9 |
72,215,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Zfp280d
|
UTSW |
9 |
72,220,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Zfp280d
|
UTSW |
9 |
72,206,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Zfp280d
|
UTSW |
9 |
72,209,052 (GRCm39) |
splice site |
probably benign |
|
|
R2269:Zfp280d
|
UTSW |
9 |
72,209,052 (GRCm39) |
splice site |
probably benign |
|
|
R2278:Zfp280d
|
UTSW |
9 |
72,246,055 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Zfp280d
|
UTSW |
9 |
72,219,371 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3780:Zfp280d
|
UTSW |
9 |
72,229,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Zfp280d
|
UTSW |
9 |
72,203,301 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4330:Zfp280d
|
UTSW |
9 |
72,203,261 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4716:Zfp280d
|
UTSW |
9 |
72,219,947 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4876:Zfp280d
|
UTSW |
9 |
72,206,140 (GRCm39) |
splice site |
probably benign |
|
|
R4909:Zfp280d
|
UTSW |
9 |
72,238,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Zfp280d
|
UTSW |
9 |
72,215,395 (GRCm39) |
unclassified |
probably benign |
|
|
R5518:Zfp280d
|
UTSW |
9 |
72,231,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5853:Zfp280d
|
UTSW |
9 |
72,238,224 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5945:Zfp280d
|
UTSW |
9 |
72,269,614 (GRCm39) |
nonsense |
probably null |
|
|
R6033:Zfp280d
|
UTSW |
9 |
72,236,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Zfp280d
|
UTSW |
9 |
72,236,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Zfp280d
|
UTSW |
9 |
72,226,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Zfp280d
|
UTSW |
9 |
72,269,224 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7658:Zfp280d
|
UTSW |
9 |
72,231,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Zfp280d
|
UTSW |
9 |
72,209,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Zfp280d
|
UTSW |
9 |
72,238,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Zfp280d
|
UTSW |
9 |
72,219,953 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7964:Zfp280d
|
UTSW |
9 |
72,229,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8096:Zfp280d
|
UTSW |
9 |
72,226,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Zfp280d
|
UTSW |
9 |
72,267,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9210:Zfp280d
|
UTSW |
9 |
72,269,789 (GRCm39) |
makesense |
probably null |
|
|
R9212:Zfp280d
|
UTSW |
9 |
72,269,789 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGTTTGGCCGTAGTTGAAAAC -3'
(R):5'- GTCAACCTGCCAACTTCCAG -3'
Sequencing Primer
(F):5'- CTTTTTGGGATTGACTAAAGCAGAC -3'
(R):5'- CTTCCAGAGAAGGCCTTTTTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation