Incidental Mutation 'IGL02675:Zfp280d'
| ID |
303079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp280d
|
| Ensembl Gene |
ENSMUSG00000038535 |
| Gene Name |
zinc finger protein 280D |
| Synonyms |
Suhw4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72219504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 227
(I227K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184517]
[ENSMUST00000184399]
|
| AlphaFold |
Q68FE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098576
AA Change: I227K
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: I227K
| 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
AA Change: I227K
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: I227K
| 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 |
noncoding transcript
Transcript: ENSMUST00000183545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183801
AA Change: I227K
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: I227K
| 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
AA Change: I202K
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: I202K
| 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: ENSMUST00000184517
AA Change: I227K
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: I227K
| 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 |
unknown
Transcript: ENSMUST00000185020
AA Change: I27K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184248
|
| 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: ENSMUST00000184786
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
probably benign |
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 |
|
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 |
|
|
R9435:Zfp280d
|
UTSW |
9 |
72,226,599 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation