Incidental Mutation 'R3077:Zfp628'
| ID |
265250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp628
|
| Ensembl Gene |
ENSMUSG00000074406 |
| Gene Name |
zinc finger protein 628 |
| Synonyms |
Zec |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.731)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4918216-4925001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4924199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 807
(E807G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[ENSMUST00000057612]
[ENSMUST00000116354]
[ENSMUST00000207506]
[ENSMUST00000207527]
[ENSMUST00000207687]
[ENSMUST00000208754]
|
| AlphaFold |
Q8CJ78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047309
|
| SMART Domains |
Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_1
|
101 |
186 |
4.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057612
|
| SMART Domains |
Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SR
|
20 |
120 |
4.44e-49 |
SMART |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
182 |
N/A |
INTRINSIC |
|
SR
|
199 |
299 |
2.36e-53 |
SMART |
|
SR
|
305 |
405 |
8.22e-53 |
SMART |
|
low complexity region
|
437 |
462 |
N/A |
INTRINSIC |
|
SR
|
464 |
565 |
1.11e-49 |
SMART |
|
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
|
SR
|
758 |
858 |
3.93e-50 |
SMART |
|
low complexity region
|
936 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
1004 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1218 |
1230 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116354
AA Change: E807G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: E807G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
34 |
56 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
90 |
112 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
118 |
140 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.69e-3 |
SMART |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
289 |
309 |
1.38e2 |
SMART |
|
low complexity region
|
334 |
344 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
346 |
368 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
376 |
398 |
9.3e-1 |
SMART |
|
low complexity region
|
422 |
440 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
446 |
468 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
530 |
552 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
558 |
580 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
586 |
608 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
614 |
636 |
7.9e-4 |
SMART |
|
low complexity region
|
685 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
1000 |
N/A |
INTRINSIC |
|
low complexity region
|
1001 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208754
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Zfp628 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00849:Zfp628
|
APN |
7 |
4,923,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Zfp628
|
UTSW |
7 |
4,923,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Zfp628
|
UTSW |
7 |
4,922,732 (GRCm39) |
missense |
probably benign |
|
|
R0450:Zfp628
|
UTSW |
7 |
4,922,732 (GRCm39) |
missense |
probably benign |
|
|
R0469:Zfp628
|
UTSW |
7 |
4,922,732 (GRCm39) |
missense |
probably benign |
|
|
R0480:Zfp628
|
UTSW |
7 |
4,924,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0518:Zfp628
|
UTSW |
7 |
4,922,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0521:Zfp628
|
UTSW |
7 |
4,922,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1081:Zfp628
|
UTSW |
7 |
4,923,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Zfp628
|
UTSW |
7 |
4,923,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1938:Zfp628
|
UTSW |
7 |
4,923,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1997:Zfp628
|
UTSW |
7 |
4,921,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2221:Zfp628
|
UTSW |
7 |
4,923,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2364:Zfp628
|
UTSW |
7 |
4,923,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Zfp628
|
UTSW |
7 |
4,924,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3966:Zfp628
|
UTSW |
7 |
4,924,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6058:Zfp628
|
UTSW |
7 |
4,923,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Zfp628
|
UTSW |
7 |
4,922,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6516:Zfp628
|
UTSW |
7 |
4,923,201 (GRCm39) |
nonsense |
probably null |
|
|
R6962:Zfp628
|
UTSW |
7 |
4,922,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7180:Zfp628
|
UTSW |
7 |
4,924,063 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7347:Zfp628
|
UTSW |
7 |
4,924,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7348:Zfp628
|
UTSW |
7 |
4,924,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7349:Zfp628
|
UTSW |
7 |
4,924,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8016:Zfp628
|
UTSW |
7 |
4,922,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Zfp628
|
UTSW |
7 |
4,923,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Zfp628
|
UTSW |
7 |
4,921,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Zfp628
|
UTSW |
7 |
4,922,813 (GRCm39) |
missense |
probably benign |
|
|
R9116:Zfp628
|
UTSW |
7 |
4,924,202 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9158:Zfp628
|
UTSW |
7 |
4,922,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Zfp628
|
UTSW |
7 |
4,923,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Zfp628
|
UTSW |
7 |
4,922,549 (GRCm39) |
missense |
probably benign |
|
|
RF018:Zfp628
|
UTSW |
7 |
4,923,948 (GRCm39) |
unclassified |
probably benign |
|
|
X0022:Zfp628
|
UTSW |
7 |
4,922,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCATTCTGCTGCCTCC -3'
(R):5'- CAGCAGGTTTGGAGCTTCTG -3'
Sequencing Primer
(F):5'- AGTGGTGCTGCAAGGCC -3'
(R):5'- GAGCTTCTGTAGTGCCAGCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation