Incidental Mutation 'R8188:Zfp280d'
| ID |
634984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp280d
|
| Ensembl Gene |
ENSMUSG00000038535 |
| Gene Name |
zinc finger protein 280D |
| Synonyms |
Suhw4 |
| MMRRC Submission |
067611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R8188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72267615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 766
(I766T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183468]
[ENSMUST00000183801]
[ENSMUST00000184019]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184399]
|
| AlphaFold |
Q68FE8 |
| Predicted Effect |
silent
Transcript: ENSMUST00000098576
|
| SMART Domains |
Protein: ENSMUSP00000096175
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 |
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: I766T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: I766T
| 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 |
silent
Transcript: ENSMUST00000183468
|
| 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 |
possibly damaging
Transcript: ENSMUST00000184019
AA Change: I165T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138994
Gene: ENSMUSG00000038535
AA Change: I165T
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
42 |
65 |
1.23e1 |
SMART |
|
ZnF_C2H2
|
88 |
112 |
1.34e2 |
SMART |
|
| Predicted Effect |
silent
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
|
| 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 |
|
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
| Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
| Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
| Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
| Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,625,868 (GRCm39) |
I869F |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
| Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
C |
4: 115,426,943 (GRCm39) |
I182T |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
| Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,763,537 (GRCm39) |
|
probably null |
Het |
| Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
| Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
| Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
| Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
| Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,507,231 (GRCm39) |
L537Q |
probably damaging |
Het |
| Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
| Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
| Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
| Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
| Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
| Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
| Styk1 |
C |
A |
6: 131,281,848 (GRCm39) |
V257L |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
| Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
| Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
probably 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 |
|
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 |
|
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'- GCACAGTTAAATTGCTCTTATCCAG -3'
(R):5'- GGGGTAGGATGTTATTCTCAACAG -3'
Sequencing Primer
(F):5'- GCTCTTATCCAGAACATTTAGTGGTG -3'
(R):5'- CTCAACAGATTAGTAAATAGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation