Incidental Mutation 'IGL02931:Zfp280d'
| ID |
364118 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp280d
|
| Ensembl Gene |
ENSMUSG00000038535 |
| Gene Name |
zinc finger protein 280D |
| Synonyms |
Suhw4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL02931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72182142-72271059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 72203307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 18
(F18L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096175
(fasta)
|
| 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: F18L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096175
Gene: ENSMUSG00000038535
AA Change: F18L
| 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 |
probably benign
Transcript: ENSMUST00000183410
AA Change: F18L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139250
Gene: ENSMUSG00000038535
AA Change: F18L
| 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: F18L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139091
Gene: ENSMUSG00000038535
AA Change: F18L
| 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: F18L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138848
Gene: ENSMUSG00000038535
AA Change: F18L
| 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: F18L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138970
Gene: ENSMUSG00000038535
AA Change: F18L
| 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
AA Change: F18L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138902
Gene: ENSMUSG00000038535
AA Change: F18L
| 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 |
probably benign
Transcript: ENSMUST00000184786
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(100) : Targeted(2) Gene trapped(98)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
| Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
| Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
| Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
| Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
| Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
| Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,304,808 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
| Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
| Lin54 |
T |
C |
5: 100,628,180 (GRCm39) |
I8V |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
| Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
| Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
| Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
| Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
| Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
| Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,891,356 (GRCm39) |
T421I |
possibly damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
| Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,342,287 (GRCm39) |
N123S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
| Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
| Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
| Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
| Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
| Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,661,939 (GRCm39) |
Y164H |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
| Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation