Incidental Mutation 'IGL03211:Zfp780b'
| ID |
413315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp780b
|
| Ensembl Gene |
ENSMUSG00000063047 |
| Gene Name |
zinc finger protein 780B |
| Synonyms |
B230208L21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27658560-27678596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27662600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 652
(C652S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081618]
[ENSMUST00000205874]
[ENSMUST00000206685]
|
| AlphaFold |
E9Q2S6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081618
AA Change: C652S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: C652S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
8.48e-36 |
SMART |
|
ZnF_C2H2
|
171 |
193 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
227 |
249 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
255 |
277 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
647 |
669 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
675 |
697 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
703 |
725 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
731 |
753 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
759 |
781 |
1.78e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205874
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206685
AA Change: C652S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
|
| Other mutations in Zfp780b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Zfp780b
|
APN |
7 |
27,664,186 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Zfp780b
|
APN |
7 |
27,662,417 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0403:Zfp780b
|
UTSW |
7 |
27,671,114 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1458:Zfp780b
|
UTSW |
7 |
27,664,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1550:Zfp780b
|
UTSW |
7 |
27,664,282 (GRCm39) |
missense |
probably benign |
|
|
R1694:Zfp780b
|
UTSW |
7 |
27,663,808 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1823:Zfp780b
|
UTSW |
7 |
27,662,525 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2113:Zfp780b
|
UTSW |
7 |
27,663,298 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3086:Zfp780b
|
UTSW |
7 |
27,663,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4620:Zfp780b
|
UTSW |
7 |
27,662,178 (GRCm39) |
nonsense |
probably null |
|
|
R5023:Zfp780b
|
UTSW |
7 |
27,662,873 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5521:Zfp780b
|
UTSW |
7 |
27,674,173 (GRCm39) |
splice site |
probably null |
|
|
R5582:Zfp780b
|
UTSW |
7 |
27,664,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5677:Zfp780b
|
UTSW |
7 |
27,662,224 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5762:Zfp780b
|
UTSW |
7 |
27,664,243 (GRCm39) |
missense |
probably benign |
|
|
R5998:Zfp780b
|
UTSW |
7 |
27,664,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6036:Zfp780b
|
UTSW |
7 |
27,662,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Zfp780b
|
UTSW |
7 |
27,662,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6050:Zfp780b
|
UTSW |
7 |
27,663,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6702:Zfp780b
|
UTSW |
7 |
27,671,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6703:Zfp780b
|
UTSW |
7 |
27,671,066 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7112:Zfp780b
|
UTSW |
7 |
27,662,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7311:Zfp780b
|
UTSW |
7 |
27,662,588 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7469:Zfp780b
|
UTSW |
7 |
27,663,382 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Zfp780b
|
UTSW |
7 |
27,664,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7847:Zfp780b
|
UTSW |
7 |
27,663,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8412:Zfp780b
|
UTSW |
7 |
27,662,551 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8824:Zfp780b
|
UTSW |
7 |
27,662,893 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9219:Zfp780b
|
UTSW |
7 |
27,663,806 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9248:Zfp780b
|
UTSW |
7 |
27,673,143 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9642:Zfp780b
|
UTSW |
7 |
27,664,135 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0024:Zfp780b
|
UTSW |
7 |
27,662,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1186:Zfp780b
|
UTSW |
7 |
27,664,082 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp780b
|
UTSW |
7 |
27,663,968 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1186:Zfp780b
|
UTSW |
7 |
27,663,250 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp780b
|
UTSW |
7 |
27,674,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation