Incidental Mutation 'R7949:Zfp78'
| ID |
649463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp78
|
| Ensembl Gene |
ENSMUSG00000055150 |
| Gene Name |
zinc finger protein 78 |
| Synonyms |
KRAB12, Zfp77 |
| MMRRC Submission |
045994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 6382365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 472
(R472G)
|
| 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: R440G
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: R440G
| 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: R472G
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: R472G
| 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: R440G
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207347
AA Change: R472G
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208030
AA Change: R440G
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208390
AA Change: R440G
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208949
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,303,353 (GRCm39) |
T6111M |
probably damaging |
Het |
| Adprhl1 |
T |
G |
8: 13,274,225 (GRCm39) |
R844S |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,807 (GRCm39) |
E115G |
possibly damaging |
Het |
| Anp32a |
A |
G |
9: 62,280,948 (GRCm39) |
E170G |
unknown |
Het |
| Arhgap27 |
A |
G |
11: 103,228,595 (GRCm39) |
S349P |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,685,328 (GRCm39) |
I110F |
probably damaging |
Het |
| Atad3a |
T |
C |
4: 155,833,152 (GRCm39) |
H437R |
possibly damaging |
Het |
| Atl2 |
C |
A |
17: 80,167,289 (GRCm39) |
R244L |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,407,083 (GRCm39) |
D222V |
probably damaging |
Het |
| Ccdc102a |
G |
T |
8: 95,631,913 (GRCm39) |
Q498K |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,338,212 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
G |
A |
7: 130,895,324 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
A |
9: 87,088,901 (GRCm39) |
M994L |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,483,047 (GRCm39) |
Y580H |
probably damaging |
Het |
| Entpd6 |
C |
A |
2: 150,612,197 (GRCm39) |
|
probably null |
Het |
| Fer |
T |
A |
17: 64,440,503 (GRCm39) |
S707T |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,207,826 (GRCm39) |
V215A |
probably benign |
Het |
| Gm20671 |
A |
G |
5: 32,977,288 (GRCm39) |
V142A |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,250,253 (GRCm39) |
N1439K |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,414 (GRCm39) |
K10R |
probably benign |
Het |
| Ighv5-8 |
TATATATATATATATATATATATA |
TATATATATATATATATATATATATA |
12: 113,618,563 (GRCm39) |
|
probably null |
Het |
| Igkv12-44 |
A |
T |
6: 69,791,874 (GRCm39) |
S30T |
probably benign |
Het |
| Immt |
A |
T |
6: 71,851,327 (GRCm39) |
R563* |
probably null |
Het |
| Jakmip1 |
A |
T |
5: 37,339,492 (GRCm39) |
Q1231L |
probably damaging |
Het |
| Jsrp1 |
T |
C |
10: 80,647,906 (GRCm39) |
T51A |
probably benign |
Het |
| Krtap31-1 |
A |
G |
11: 99,799,144 (GRCm39) |
T116A |
possibly damaging |
Het |
| Lrp8 |
T |
A |
4: 107,660,524 (GRCm39) |
D61E |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,262,081 (GRCm39) |
D311G |
probably benign |
Het |
| Men1 |
C |
T |
19: 6,388,323 (GRCm39) |
S314L |
possibly damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,234,397 (GRCm39) |
N290S |
possibly damaging |
Het |
| Or2f2 |
T |
C |
6: 42,767,588 (GRCm39) |
V205A |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,610 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
A |
T |
9: 95,576,688 (GRCm39) |
T320S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phf21b |
G |
T |
15: 84,676,036 (GRCm39) |
P337H |
probably damaging |
Het |
| Pinlyp |
G |
T |
7: 24,245,375 (GRCm39) |
T15K |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,521 (GRCm39) |
S307R |
probably benign |
Het |
| Ptk7 |
T |
A |
17: 46,897,387 (GRCm39) |
E315V |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,144,233 (GRCm38) |
I327T |
probably damaging |
Het |
| Rabgap1 |
A |
T |
2: 37,453,491 (GRCm39) |
K973I |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,851,892 (GRCm39) |
I238L |
probably benign |
Het |
| Runx2 |
T |
A |
17: 45,046,442 (GRCm39) |
D109V |
possibly damaging |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,991 (GRCm39) |
G171C |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,467,795 (GRCm39) |
I451T |
possibly damaging |
Het |
| Sugp1 |
A |
T |
8: 70,509,153 (GRCm39) |
Y142F |
possibly damaging |
Het |
| Sumf2 |
T |
C |
5: 129,881,759 (GRCm39) |
F98S |
probably damaging |
Het |
| Tmem120a |
C |
T |
5: 135,771,220 (GRCm39) |
E39K |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,936,103 (GRCm39) |
P2680L |
probably 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 |
|
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 |
|
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'- TCAGCCAGAATTCATACCTCACTG -3'
(R):5'- AACGCTACAGGTTCGTAGGC -3'
Sequencing Primer
(F):5'- TAGAAGTGCCTATCTTGCCAGAC -3'
(R):5'- TACAGGTTCGTAGGCGGCTAAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation