Incidental Mutation 'IGL02676:Zfp280d'
| ID |
303141 |
| 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: 0.246)
|
| Stock # |
IGL02676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72242356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 661
(R661S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184019]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184517]
[ENSMUST00000184399]
|
| AlphaFold |
Q68FE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098576
AA Change: R686S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: R686S
| 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 damaging
Transcript: ENSMUST00000183410
AA Change: R686S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: R686S
| 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: ENSMUST00000183459
|
| 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 damaging
Transcript: ENSMUST00000184019
AA Change: R72S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138994
Gene: ENSMUSG00000038535
AA Change: R72S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
42 |
65 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
88 |
112 |
1.34e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184036
AA Change: R661S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138857
Gene: ENSMUSG00000038535
AA Change: R661S
| 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 damaging
Transcript: ENSMUST00000184517
AA Change: R686S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: R686S
| 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 |
noncoding transcript
Transcript: ENSMUST00000184141
|
| 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: ENSMUST00000184216
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
| Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,135,616 (GRCm39) |
S456N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
| Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,112 (GRCm39) |
|
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
| Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
| Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
| Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
| Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
| Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
| Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,770 (GRCm39) |
T703M |
probably benign |
Het |
| Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
| Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
| Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
| Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,620,945 (GRCm39) |
Q517L |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
| Tcf3 |
C |
T |
10: 80,256,925 (GRCm39) |
G64R |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
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 |
|
IGL02675:Zfp280d
|
APN |
9 |
72,219,504 (GRCm39) |
missense |
probably benign |
0.33 |
|
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