Incidental Mutation 'R1035:Zfp78'
| ID |
95531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp78
|
| Ensembl Gene |
ENSMUSG00000055150 |
| Gene Name |
zinc finger protein 78 |
| Synonyms |
KRAB12, Zfp77 |
| MMRRC Submission |
039134-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R1035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 6381660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 237
(V237F)
|
| 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 benign
Transcript: ENSMUST00000086323
AA Change: V205F
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: V205F
| 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: V237F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: V237F
| 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 benign
Transcript: ENSMUST00000207314
AA Change: V205F
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207347
AA Change: V237F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208030
AA Change: V205F
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208390
AA Change: V205F
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
| Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
| Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
| Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,606,112 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam98b |
C |
T |
2: 117,101,120 (GRCm39) |
R311W |
possibly damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,347 (GRCm39) |
C102S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,579,803 (GRCm39) |
Y446H |
unknown |
Het |
| Spmap2 |
G |
A |
10: 79,419,684 (GRCm39) |
T182M |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
| Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
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 |
|
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'- ACCGAATCCTTAAAATCTGCCCATCTG -3'
(R):5'- AGGCCCTTCcacatttctcacatacata -3'
Sequencing Primer
(F):5'- gaaaatctgggcagggaaga -3'
(R):5'- gtcttcccacattcgttacattc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation