Incidental Mutation 'R3950:Zfp280d'
ID |
307871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp280d
|
Ensembl Gene |
ENSMUSG00000038535 |
Gene Name |
zinc finger protein 280D |
Synonyms |
Suhw4 |
MMRRC Submission |
040930-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.245)
|
Stock # |
R3950 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 72203301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 16
(Q16H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184399]
[ENSMUST00000184517]
|
AlphaFold |
Q68FE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098576
AA Change: Q16H
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000096175 Gene: ENSMUSG00000038535 AA Change: Q16H
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 |
noncoding transcript
Transcript: ENSMUST00000183380
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183400
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183410
AA Change: Q16H
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139250 Gene: ENSMUSG00000038535 AA Change: Q16H
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
AA Change: Q16H
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139091 Gene: ENSMUSG00000038535 AA Change: Q16H
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
AA Change: Q16H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138848 Gene: ENSMUSG00000038535 AA Change: Q16H
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
AA Change: Q16H
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000138902 Gene: ENSMUSG00000038535 AA Change: Q16H
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 |
possibly damaging
Transcript: ENSMUST00000184517
AA Change: Q16H
PolyPhen 2
Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138970 Gene: ENSMUSG00000038535 AA Change: Q16H
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
Appbp2 |
A |
G |
11: 85,085,532 (GRCm39) |
I458T |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,021,013 (GRCm39) |
Y291C |
probably damaging |
Het |
Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
B4galt4 |
G |
T |
16: 38,588,384 (GRCm39) |
A72S |
probably benign |
Het |
C3 |
T |
C |
17: 57,532,286 (GRCm39) |
R178G |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
Col11a1 |
T |
C |
3: 113,915,094 (GRCm39) |
|
probably null |
Het |
Col22a1 |
A |
G |
15: 71,849,207 (GRCm39) |
F294L |
possibly damaging |
Het |
Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,112,061 (GRCm39) |
Y276* |
probably null |
Het |
Eea1 |
A |
T |
10: 95,877,996 (GRCm39) |
N1389I |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fezf1 |
T |
A |
6: 23,247,419 (GRCm39) |
K219* |
probably null |
Het |
Fsd1 |
G |
A |
17: 56,302,517 (GRCm39) |
|
probably null |
Het |
Haspin |
A |
G |
11: 73,027,221 (GRCm39) |
Y623H |
probably damaging |
Het |
Hsd3b1 |
C |
T |
3: 98,763,454 (GRCm39) |
V56M |
possibly damaging |
Het |
Hyou1 |
C |
T |
9: 44,296,524 (GRCm39) |
T483I |
probably damaging |
Het |
Kdm2a |
A |
G |
19: 4,393,260 (GRCm39) |
L365S |
possibly damaging |
Het |
Kdm6b |
G |
T |
11: 69,296,441 (GRCm39) |
P609T |
probably damaging |
Het |
Klhl18 |
T |
A |
9: 110,257,970 (GRCm39) |
Y490F |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,627 (GRCm39) |
Q545* |
probably null |
Het |
L1td1 |
T |
C |
4: 98,625,590 (GRCm39) |
L595P |
probably benign |
Het |
Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,855,489 (GRCm39) |
V941E |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
Ninl |
A |
T |
2: 150,794,408 (GRCm39) |
I740K |
possibly damaging |
Het |
Npepl1 |
A |
G |
2: 173,962,906 (GRCm39) |
N431D |
probably damaging |
Het |
Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
Pard6b |
C |
T |
2: 167,941,114 (GRCm39) |
T367I |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,568 (GRCm39) |
E525G |
probably damaging |
Het |
Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,865,586 (GRCm39) |
S199P |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,416,590 (GRCm39) |
|
probably null |
Het |
Pif1 |
C |
A |
9: 65,499,116 (GRCm39) |
N445K |
probably damaging |
Het |
Prickle4 |
T |
C |
17: 47,999,507 (GRCm39) |
K349E |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,742,670 (GRCm39) |
M173K |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,500,102 (GRCm39) |
L515P |
probably damaging |
Het |
Rcvrn |
A |
G |
11: 67,590,877 (GRCm39) |
K154E |
probably damaging |
Het |
Ros1 |
C |
T |
10: 51,942,484 (GRCm39) |
V2059I |
probably damaging |
Het |
Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
C |
15: 32,689,484 (GRCm39) |
Y1050H |
probably damaging |
Het |
Slc25a28 |
C |
T |
19: 43,652,708 (GRCm39) |
V318I |
probably benign |
Het |
Srek1 |
G |
A |
13: 103,881,403 (GRCm39) |
R408W |
unknown |
Het |
Synrg |
C |
T |
11: 83,880,641 (GRCm39) |
T444I |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
Tmem127 |
T |
C |
2: 127,090,577 (GRCm39) |
L31P |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,870,074 (GRCm39) |
T190S |
probably benign |
Het |
Trip10 |
T |
A |
17: 57,560,411 (GRCm39) |
|
probably null |
Het |
Ttc6 |
A |
G |
12: 57,696,292 (GRCm39) |
Y31C |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,661,729 (GRCm39) |
H1718L |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,569,599 (GRCm39) |
F495S |
probably damaging |
Het |
Zfp521 |
A |
G |
18: 13,979,403 (GRCm39) |
S337P |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,995,503 (GRCm39) |
T218S |
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 |
|
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 |
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'- GGTCACATGGTAAGCTTAAATACTT -3'
(R):5'- CTGACATAAACAGTAGCTATTTCTGTT -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- AAGATGGGGACCATCTCT -3'
|
Posted On |
2015-04-17 |