Incidental Mutation 'R0704:Zfp78'
ID |
63089 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp78
|
Ensembl Gene |
ENSMUSG00000055150 |
Gene Name |
zinc finger protein 78 |
Synonyms |
KRAB12, Zfp77 |
MMRRC Submission |
038887-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R0704 (G1)
|
Quality Score |
103 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6382251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 402
(C402S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147228
(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: C402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083503 Gene: ENSMUSG00000055150 AA Change: C402S
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: C434S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104199 Gene: ENSMUSG00000055150 AA Change: C434S
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: C402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207347
AA Change: C434S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208030
AA Change: C402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208390
AA Change: C402S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
Hormad1 |
T |
C |
3: 95,473,997 (GRCm39) |
|
probably null |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Ms4a1 |
T |
C |
19: 11,230,596 (GRCm39) |
T202A |
probably benign |
Het |
Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,777,928 (GRCm39) |
S6P |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
Srsf12 |
A |
G |
4: 33,231,069 (GRCm39) |
R188G |
probably damaging |
Het |
Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCAGCCAGAATTCATACCTCACTG -3'
(R):5'- CTACAGGTTCGTAGGCGGCTAAAG -3'
Sequencing Primer
(F):5'- atgaatgtaacgaatgtgggaag -3'
(R):5'- AAGGCCCTTCcacatttctcac -3'
|
Posted On |
2013-07-30 |