Incidental Mutation 'R2278:Zfp280d'
ID |
242915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp280d
|
Ensembl Gene |
ENSMUSG00000038535 |
Gene Name |
zinc finger protein 280D |
Synonyms |
Suhw4 |
MMRRC Submission |
040277-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R2278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 72246055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 707
(C707*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184019]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184517]
[ENSMUST00000184399]
|
AlphaFold |
Q68FE8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000098576
AA Change: C707*
|
SMART Domains |
Protein: ENSMUSP00000096175 Gene: ENSMUSG00000038535 AA Change: C707*
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: C707*
|
SMART Domains |
Protein: ENSMUSP00000139250 Gene: ENSMUSG00000038535 AA Change: C707*
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: C93*
|
SMART Domains |
Protein: ENSMUSP00000138994 Gene: ENSMUSG00000038535 AA Change: C93*
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
42 |
65 |
1.23e1 |
SMART |
ZnF_C2H2
|
88 |
112 |
1.34e2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184036
AA Change: C682*
|
SMART Domains |
Protein: ENSMUSP00000138857 Gene: ENSMUSG00000038535 AA Change: C682*
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 null
Transcript: ENSMUST00000184216
AA Change: C8*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184517
AA Change: C707*
|
SMART Domains |
Protein: ENSMUSP00000138970 Gene: ENSMUSG00000038535 AA Change: C707*
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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,886,957 (GRCm39) |
Q188R |
probably benign |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Ifi44 |
T |
C |
3: 151,438,025 (GRCm39) |
N421D |
probably benign |
Het |
Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
Pfkp |
T |
C |
13: 6,669,245 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,188 (GRCm39) |
I380M |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
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 |
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 |
|
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'- AGTATTCTAGGTTGTGCTCTACTTC -3'
(R):5'- AGTAAAGAACCCACATTTTGGC -3'
Sequencing Primer
(F):5'- TGGACATAGGTATGCCACTTTC -3'
(R):5'- GTAAAGAACCCACATTTTGGCTTTCC -3'
|
Posted On |
2014-10-16 |