Incidental Mutation 'R7501:Zfp280d'
ID |
581484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp280d
|
Ensembl Gene |
ENSMUSG00000038535 |
Gene Name |
zinc finger protein 280D |
Synonyms |
Suhw4 |
MMRRC Submission |
045574-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R7501 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72269224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 787
(D787G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098576]
[ENSMUST00000183410]
[ENSMUST00000183468]
[ENSMUST00000183801]
[ENSMUST00000184019]
[ENSMUST00000184036]
[ENSMUST00000184053]
[ENSMUST00000184399]
|
AlphaFold |
Q68FE8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098576
AA Change: D787G
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000096175 Gene: ENSMUSG00000038535 AA Change: D787G
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 |
unknown
Transcript: ENSMUST00000183410
AA Change: I772V
|
SMART Domains |
Protein: ENSMUSP00000139250 Gene: ENSMUSG00000038535 AA Change: I772V
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: ENSMUST00000183468
AA Change: D31G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
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: I171V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138994 Gene: ENSMUSG00000038535 AA Change: I171V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
42 |
65 |
1.23e1 |
SMART |
ZnF_C2H2
|
88 |
112 |
1.34e2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184036
AA Change: D762G
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138857 Gene: ENSMUSG00000038535 AA Change: D762G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
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'- GGCTCCAGCATTTCTTACGAG -3'
(R):5'- AACTCTGGTCCACCTTCAGC -3'
Sequencing Primer
(F):5'- AGCATTTCTTACGAGTTTTGCCTTAG -3'
(R):5'- CCATTTCCTGACAAGCATGATGTG -3'
|
Posted On |
2019-10-17 |