Incidental Mutation 'R1402:Zfp78'
ID |
188569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp78
|
Ensembl Gene |
ENSMUSG00000055150 |
Gene Name |
zinc finger protein 78 |
Synonyms |
KRAB12, Zfp77 |
MMRRC Submission |
039464-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R1402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 6381618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 223
(H223N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081022]
[ENSMUST00000086323]
[ENSMUST00000108559]
[ENSMUST00000207314]
[ENSMUST00000207347]
[ENSMUST00000208030]
[ENSMUST00000208390]
[ENSMUST00000208763]
|
AlphaFold |
Q5U406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081022
|
SMART Domains |
Protein: ENSMUSP00000079812 Gene: ENSMUSG00000062861
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
50 |
N/A |
INTRINSIC |
KRAB
|
103 |
163 |
3.53e-33 |
SMART |
ZnF_C2H2
|
377 |
399 |
3.95e-4 |
SMART |
ZnF_C2H2
|
405 |
427 |
6.88e-4 |
SMART |
ZnF_C2H2
|
433 |
456 |
1.2e-3 |
SMART |
ZnF_C2H2
|
462 |
484 |
9.58e-3 |
SMART |
ZnF_C2H2
|
490 |
512 |
2.57e-3 |
SMART |
ZnF_C2H2
|
518 |
540 |
1.82e-3 |
SMART |
ZnF_C2H2
|
546 |
568 |
2.4e-3 |
SMART |
ZnF_C2H2
|
574 |
596 |
6.32e-3 |
SMART |
ZnF_C2H2
|
602 |
624 |
1.38e-3 |
SMART |
ZnF_C2H2
|
630 |
652 |
4.87e-4 |
SMART |
ZnF_C2H2
|
658 |
680 |
2.91e-2 |
SMART |
ZnF_C2H2
|
686 |
708 |
2.36e-2 |
SMART |
ZnF_C2H2
|
714 |
736 |
6.42e-4 |
SMART |
ZnF_C2H2
|
742 |
764 |
2.4e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086323
AA Change: H191N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000083503 Gene: ENSMUSG00000055150 AA Change: H191N
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 |
probably damaging
Transcript: ENSMUST00000108559
AA Change: H223N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104199 Gene: ENSMUSG00000055150 AA Change: H223N
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: ENSMUST00000207086
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207314
AA Change: H191N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207347
AA Change: H223N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208030
AA Change: H191N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208390
AA Change: H191N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,004,528 (GRCm39) |
|
probably benign |
Het |
Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
Mcm3ap |
C |
T |
10: 76,313,748 (GRCm39) |
|
probably benign |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
|
Other mutations in Zfp78 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01023:Zfp78
|
APN |
7 |
6,378,587 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTGGAGAACACTACAAGTCTTGG -3'
(R):5'- CAGTGAGGTATGAATTCTGGCTGAAGG -3'
Sequencing Primer
(F):5'- CCTTCTGGATAGACAGATGAGTC -3'
(R):5'- AGGCTTTCTTACATTCCTCACAC -3'
|
Posted On |
2014-05-09 |