Incidental Mutation 'IGL01023:Zfp78'
| ID |
53706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp78
|
| Ensembl Gene |
ENSMUSG00000055150 |
| Gene Name |
zinc finger protein 78 |
| Synonyms |
KRAB12, Zfp77 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL01023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6378587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 77
(G77D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086323]
[ENSMUST00000108559]
[ENSMUST00000207314]
[ENSMUST00000207347]
[ENSMUST00000208030]
[ENSMUST00000208390]
[ENSMUST00000208763]
|
| AlphaFold |
Q5U406 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086323
|
| SMART Domains |
Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.07e-23 |
SMART |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
173 |
195 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
6.32e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108559
AA Change: G77D
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: G77D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
3.12e-34 |
SMART |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
205 |
227 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
457 |
479 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
6.32e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207314
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207347
AA Change: G77D
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208390
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208763
AA Change: G77D
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
| Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
| Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
| Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,826 (GRCm39) |
S177P |
probably damaging |
Het |
| Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
| Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,718 (GRCm39) |
F460L |
possibly damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,169 (GRCm39) |
T279S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,583,856 (GRCm39) |
V152A |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
| Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
| Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
| Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,019,988 (GRCm39) |
L128P |
probably damaging |
Het |
| Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
| Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
|
| Other mutations in Zfp78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0502:Zfp78
|
UTSW |
7 |
6,376,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Zfp78
|
UTSW |
7 |
6,382,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Zfp78
|
UTSW |
7 |
6,381,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Zfp78
|
UTSW |
7 |
6,381,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Zfp78
|
UTSW |
7 |
6,381,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Zfp78
|
UTSW |
7 |
6,381,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1955:Zfp78
|
UTSW |
7 |
6,381,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2004:Zfp78
|
UTSW |
7 |
6,382,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Zfp78
|
UTSW |
7 |
6,378,513 (GRCm39) |
splice site |
probably null |
|
|
R2357:Zfp78
|
UTSW |
7 |
6,382,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Zfp78
|
UTSW |
7 |
6,381,528 (GRCm39) |
missense |
probably benign |
|
|
R6742:Zfp78
|
UTSW |
7 |
6,381,277 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6996:Zfp78
|
UTSW |
7 |
6,381,764 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7944:Zfp78
|
UTSW |
7 |
6,381,589 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7949:Zfp78
|
UTSW |
7 |
6,382,365 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8186:Zfp78
|
UTSW |
7 |
6,376,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Zfp78
|
UTSW |
7 |
6,376,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8429:Zfp78
|
UTSW |
7 |
6,381,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8675:Zfp78
|
UTSW |
7 |
6,381,280 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8959:Zfp78
|
UTSW |
7 |
6,382,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9184:Zfp78
|
UTSW |
7 |
6,382,300 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9289:Zfp78
|
UTSW |
7 |
6,381,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9343:Zfp78
|
UTSW |
7 |
6,381,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Zfp78
|
UTSW |
7 |
6,382,354 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9406:Zfp78
|
UTSW |
7 |
6,382,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9564:Zfp78
|
UTSW |
7 |
6,381,390 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9615:Zfp78
|
UTSW |
7 |
6,382,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Zfp78
|
UTSW |
7 |
6,382,078 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-06-28 |
Incidental Mutation