Incidental Mutation 'R0419:Zfp280d'
ID |
36933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp280d
|
Ensembl Gene |
ENSMUSG00000038535 |
Gene Name |
zinc finger protein 280D |
Synonyms |
Suhw4 |
MMRRC Submission |
038621-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.245)
|
Stock # |
R0419 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72219519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183801]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184517]
[ENSMUST00000184399]
|
AlphaFold |
Q68FE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098576
AA Change: V232A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000096175 Gene: ENSMUSG00000038535 AA Change: V232A
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: V232A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139250 Gene: ENSMUSG00000038535 AA Change: V232A
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: ENSMUST00000183545
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183608
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183801
AA Change: V232A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000139091 Gene: ENSMUSG00000038535 AA Change: V232A
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
AA Change: V207A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138857 Gene: ENSMUSG00000038535 AA Change: V207A
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 benign
Transcript: ENSMUST00000184517
AA Change: V232A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000138970 Gene: ENSMUSG00000038535 AA Change: V232A
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: ENSMUST00000185020
AA Change: V32A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184248
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184786
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
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 |
|
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'- caccacgcccagcAATGATTTCTAT -3'
(R):5'- ACACTTGGGACATGCTCTTGGAAAA -3'
Sequencing Primer
(F):5'- AGTTCCCACATATTTAGACTTAACTG -3'
(R):5'- gtgccagaggagaatgtcag -3'
|
Posted On |
2013-05-09 |