Incidental Mutation 'R8186:Zfp78'
| ID |
634863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp78
|
| Ensembl Gene |
ENSMUSG00000055150 |
| Gene Name |
zinc finger protein 78 |
| Synonyms |
KRAB12, Zfp77 |
| MMRRC Submission |
067609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R8186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6366279-6385604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6376228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 46
(N46D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086323]
[ENSMUST00000108559]
[ENSMUST00000207314]
[ENSMUST00000207347]
[ENSMUST00000208030]
[ENSMUST00000208390]
[ENSMUST00000208763]
|
| AlphaFold |
Q5U406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086323
AA Change: N46D
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: N46D
| 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: N46D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: N46D
| 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 |
possibly damaging
Transcript: ENSMUST00000207314
AA Change: N46D
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207347
AA Change: N46D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208030
AA Change: N46D
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208390
AA Change: N46D
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208763
AA Change: N46D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
A |
6: 86,085,002 (GRCm39) |
V543M |
probably benign |
Het |
| Agl |
A |
G |
3: 116,552,557 (GRCm39) |
I459T |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,945,714 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| C130073F10Rik |
G |
A |
4: 101,748,031 (GRCm39) |
R48* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,031,050 (GRCm39) |
T125M |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,895 (GRCm39) |
F50L |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,725,233 (GRCm39) |
D1187E |
unknown |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Cped1 |
T |
C |
6: 22,123,587 (GRCm39) |
S447P |
probably benign |
Het |
| Ddx19a |
T |
A |
8: 111,710,274 (GRCm39) |
M109L |
probably benign |
Het |
| Def8 |
C |
A |
8: 124,188,215 (GRCm39) |
Y431* |
probably null |
Het |
| Gata4 |
A |
G |
14: 63,438,962 (GRCm39) |
S373P |
probably benign |
Het |
| Gm9837 |
A |
T |
11: 53,361,136 (GRCm39) |
L26* |
probably null |
Het |
| Hspa1b |
A |
T |
17: 35,176,557 (GRCm39) |
V476E |
probably damaging |
Het |
| Htr5b |
G |
A |
1: 121,456,108 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
C |
8: 111,336,277 (GRCm39) |
V5018A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,923 (GRCm39) |
S26P |
probably benign |
Het |
| Kics2 |
T |
A |
10: 121,581,247 (GRCm39) |
F83I |
possibly damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,789,910 (GRCm39) |
K56E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,219 (GRCm39) |
I6793N |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,275,923 (GRCm39) |
V6215G |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,716,355 (GRCm39) |
|
probably null |
Het |
| Odad4 |
A |
G |
11: 100,454,505 (GRCm39) |
D430G |
probably benign |
Het |
| Oprk1 |
A |
T |
1: 5,672,540 (GRCm39) |
M226L |
probably benign |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Phf2 |
A |
G |
13: 48,961,227 (GRCm39) |
L821P |
unknown |
Het |
| Rdh7 |
C |
A |
10: 127,723,284 (GRCm39) |
|
probably null |
Het |
| Rpl11 |
A |
G |
4: 135,778,968 (GRCm39) |
V74A |
possibly damaging |
Het |
| Safb2 |
G |
A |
17: 56,873,051 (GRCm39) |
R790C |
possibly damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,609 (GRCm39) |
F204S |
probably benign |
Het |
| Sgsm3 |
A |
C |
15: 80,893,643 (GRCm39) |
I426L |
possibly damaging |
Het |
| Speer1b |
A |
G |
5: 11,823,926 (GRCm39) |
D158G |
probably damaging |
Het |
| Styxl2 |
A |
G |
1: 165,927,648 (GRCm39) |
S655P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,637,189 (GRCm39) |
L545P |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,489 (GRCm39) |
F127L |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,749,256 (GRCm39) |
Q3931P |
probably damaging |
Het |
| Tuba1c |
C |
A |
15: 98,935,396 (GRCm39) |
L286I |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,348,507 (GRCm39) |
R528G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,867 (GRCm39) |
T1068A |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,205 (GRCm39) |
T660S |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,444,880 (GRCm39) |
Y537* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,157 (GRCm39) |
I744F |
|
Het |
| Wnt9b |
T |
C |
11: 103,621,601 (GRCm39) |
E352G |
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 |
|
R7949:Zfp78
|
UTSW |
7 |
6,382,365 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- TTAAGCTCCTGGACAGAAACAC -3'
(R):5'- TGTTTGCAGGTCCAATTGCC -3'
Sequencing Primer
(F):5'- TTTAGCAACTGACTCCCAAGGGG -3'
(R):5'- TGCAGGTCCAATTGCCTAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation