Incidental Mutation 'R0288:Zfp280d'
ID |
24735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp280d
|
Ensembl Gene |
ENSMUSG00000038535 |
Gene Name |
zinc finger protein 280D |
Synonyms |
Suhw4 |
MMRRC Submission |
038507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.245)
|
Stock # |
R0288 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 72238621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 646
(K646*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184019]
[ENSMUST00000184036]
[ENSMUST00000184517]
[ENSMUST00000184053]
[ENSMUST00000184399]
|
AlphaFold |
Q68FE8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098576
AA Change: K646*
|
SMART Domains |
Protein: ENSMUSP00000096175 Gene: ENSMUSG00000038535 AA Change: K646*
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 null
Transcript: ENSMUST00000183410
AA Change: K646*
|
SMART Domains |
Protein: ENSMUSP00000139250 Gene: ENSMUSG00000038535 AA Change: K646*
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 null
Transcript: ENSMUST00000184019
AA Change: K32*
|
SMART Domains |
Protein: ENSMUSP00000138994 Gene: ENSMUSG00000038535 AA Change: K32*
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
42 |
65 |
1.23e1 |
SMART |
ZnF_C2H2
|
88 |
112 |
1.34e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184025
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184036
AA Change: K621*
|
SMART Domains |
Protein: ENSMUSP00000138857 Gene: ENSMUSG00000038535 AA Change: K621*
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 null
Transcript: ENSMUST00000184517
AA Change: K646*
|
SMART Domains |
Protein: ENSMUSP00000138970 Gene: ENSMUSG00000038535 AA Change: K646*
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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,711,410 (GRCm39) |
N519S |
probably benign |
Het |
Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
Hdac4 |
A |
T |
1: 91,898,728 (GRCm39) |
H675Q |
probably damaging |
Het |
Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Ndst3 |
A |
T |
3: 123,465,843 (GRCm39) |
V43D |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,399,794 (GRCm39) |
D306G |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
Sry |
A |
T |
Y: 2,662,818 (GRCm39) |
F281I |
unknown |
Het |
Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly damaging |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGACCCCAGTAAAGCTAATGAGACC -3'
(R):5'- TGTTGCCAGCATCACTGAAAATCCTC -3'
Sequencing Primer
(F):5'- CACTAAGGAACTTAAGGTAATGCCTC -3'
(R):5'- GACTGATTTGAAGAGAATGACATCC -3'
|
Posted On |
2013-04-16 |