Incidental Mutation 'IGL03019:Zfp276'
| ID |
407998 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp276
|
| Ensembl Gene |
ENSMUSG00000001065 |
| Gene Name |
zinc finger protein (C2H2 type) 276 |
| Synonyms |
D8Ertd377e, D8Ertd370e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
IGL03019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123994673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 580
(T580N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000035495]
[ENSMUST00000127664]
[ENSMUST00000154450]
|
| AlphaFold |
Q8CE64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001092
AA Change: T580N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001092
Gene: ENSMUSG00000001065
AA Change: T580N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:zf-AD
|
79 |
159 |
1.2e-13 |
PFAM |
|
low complexity region
|
402 |
422 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
434 |
458 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
465 |
490 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
554 |
577 |
4.79e-3 |
SMART |
|
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035495
|
| SMART Domains |
Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:Fanconi_A_N
|
167 |
520 |
3.7e-146 |
PFAM |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1200 |
1225 |
N/A |
INTRINSIC |
|
Pfam:Fanconi_A
|
1246 |
1308 |
8.4e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126834
|
| SMART Domains |
Protein: ENSMUSP00000116732
Gene: ENSMUSG00000032815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211934
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154450
|
| SMART Domains |
Protein: ENSMUSP00000119771
Gene: ENSMUSG00000001065
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:zf-AD
|
79 |
159 |
1.9e-14 |
PFAM |
|
low complexity region
|
183 |
203 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
T |
A |
9: 121,738,248 (GRCm39) |
Y208N |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
| Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,116,692 (GRCm39) |
K223E |
unknown |
Het |
| Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
| Drg2 |
T |
C |
11: 60,347,421 (GRCm39) |
Y37H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
| Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
| Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,539,680 (GRCm39) |
|
probably benign |
Het |
| Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
| Lce1k |
A |
C |
3: 92,714,086 (GRCm39) |
C33G |
unknown |
Het |
| Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
| Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
| Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
| Other mutations in Zfp276 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Zfp276
|
APN |
8 |
123,985,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02573:Zfp276
|
APN |
8 |
123,991,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Zfp276
|
APN |
8 |
123,994,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02956:Zfp276
|
APN |
8 |
123,981,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Zfp276
|
UTSW |
8 |
123,991,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Zfp276
|
UTSW |
8 |
123,986,242 (GRCm39) |
nonsense |
probably null |
|
|
R1084:Zfp276
|
UTSW |
8 |
123,981,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4199:Zfp276
|
UTSW |
8 |
123,994,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4506:Zfp276
|
UTSW |
8 |
123,991,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4584:Zfp276
|
UTSW |
8 |
123,995,145 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4776:Zfp276
|
UTSW |
8 |
123,981,623 (GRCm39) |
missense |
probably benign |
|
|
R4985:Zfp276
|
UTSW |
8 |
123,994,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
|
R5018:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
|
R5115:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
|
R5116:Zfp276
|
UTSW |
8 |
123,991,716 (GRCm39) |
unclassified |
probably benign |
|
|
R5412:Zfp276
|
UTSW |
8 |
123,982,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Zfp276
|
UTSW |
8 |
123,992,021 (GRCm39) |
unclassified |
probably benign |
|
|
R5822:Zfp276
|
UTSW |
8 |
123,982,457 (GRCm39) |
missense |
probably benign |
|
|
R6059:Zfp276
|
UTSW |
8 |
123,994,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Zfp276
|
UTSW |
8 |
123,982,672 (GRCm39) |
nonsense |
probably null |
|
|
R6947:Zfp276
|
UTSW |
8 |
123,981,643 (GRCm39) |
missense |
probably benign |
|
|
R6975:Zfp276
|
UTSW |
8 |
123,983,570 (GRCm39) |
nonsense |
probably null |
|
|
R7313:Zfp276
|
UTSW |
8 |
123,994,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Zfp276
|
UTSW |
8 |
123,985,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation