Incidental Mutation 'IGL02956:Zfp276'
ID |
365117 |
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 # |
IGL02956
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
123980934-123996484 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123981483 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 10
(L10P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000117643]
[ENSMUST00000118279]
[ENSMUST00000122363]
[ENSMUST00000127664]
[ENSMUST00000154450]
[ENSMUST00000155869]
|
AlphaFold |
Q8CE64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001092
AA Change: L10P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001092 Gene: ENSMUSG00000001065 AA Change: L10P
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: ENSMUST00000117643
|
SMART Domains |
Protein: ENSMUSP00000113748 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
645 |
8.5e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118279
|
SMART Domains |
Protein: ENSMUSP00000113634 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
645 |
1.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122363
|
SMART Domains |
Protein: ENSMUSP00000113575 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
low complexity region
|
266 |
279 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
Pfam:VPS9
|
528 |
644 |
5.6e-27 |
PFAM |
|
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: ENSMUST00000129591
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154450
AA Change: L10P
|
SMART Domains |
Protein: ENSMUSP00000119771 Gene: ENSMUSG00000001065 AA Change: L10P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137569
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150356
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149490
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130275
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155869
|
SMART Domains |
Protein: ENSMUSP00000122184 Gene: ENSMUSG00000001062
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
coiled coil region
|
187 |
223 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
Akna |
G |
T |
4: 63,304,516 (GRCm39) |
T546K |
probably benign |
Het |
Albfm1 |
A |
G |
5: 90,727,497 (GRCm39) |
I372V |
possibly damaging |
Het |
Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
Gnl1 |
T |
C |
17: 36,298,504 (GRCm39) |
I416T |
probably benign |
Het |
Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
Itga10 |
A |
G |
3: 96,562,429 (GRCm39) |
E737G |
possibly damaging |
Het |
Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
Sec14l1 |
G |
A |
11: 117,043,973 (GRCm39) |
D494N |
probably benign |
Het |
Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
probably benign |
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 |
IGL03019:Zfp276
|
APN |
8 |
123,994,673 (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 |
2015-12-18 |