Incidental Mutation 'R3966:Zfp628'
| ID |
312345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp628
|
| Ensembl Gene |
ENSMUSG00000074406 |
| Gene Name |
zinc finger protein 628 |
| Synonyms |
Zec |
| MMRRC Submission |
040935-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.731)
|
| Stock # |
R3966 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4918216-4925001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4924744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 989
(S989P)
|
| 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 |
probably benign
Transcript: ENSMUST00000116354
AA Change: S989P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: S989P
| 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
|
| Meta Mutation Damage Score |
0.1064 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
C |
1: 89,762,183 (GRCm39) |
I371T |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,845,730 (GRCm39) |
T731I |
probably damaging |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| C3 |
A |
G |
17: 57,525,664 (GRCm39) |
V864A |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,522,161 (GRCm38) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
| Ces1g |
C |
A |
8: 94,055,139 (GRCm39) |
R186L |
possibly damaging |
Het |
| Chd2 |
A |
G |
7: 73,114,143 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,764,091 (GRCm39) |
Y404H |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,126,890 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
| E330034G19Rik |
G |
T |
14: 24,356,939 (GRCm39) |
M158I |
unknown |
Het |
| Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
| Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
| Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
| Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
| Kdm4c |
A |
G |
4: 74,216,820 (GRCm39) |
D193G |
probably damaging |
Het |
| Mbd5 |
A |
T |
2: 49,162,082 (GRCm39) |
I855L |
possibly damaging |
Het |
| Mcpt1 |
G |
A |
14: 56,256,503 (GRCm39) |
V80M |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,313,646 (GRCm39) |
D30G |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,376,161 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,583 (GRCm39) |
T624A |
probably damaging |
Het |
| Nfat5 |
G |
T |
8: 108,093,921 (GRCm39) |
A721S |
possibly damaging |
Het |
| Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,110,350 (GRCm39) |
G148D |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,439,724 (GRCm39) |
E368K |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 149,981,226 (GRCm39) |
I503N |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,149 (GRCm39) |
S243P |
possibly damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,356 (GRCm39) |
S426G |
probably null |
Het |
| Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
| Spink10 |
T |
C |
18: 62,790,975 (GRCm39) |
I87T |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,418 (GRCm39) |
S339P |
possibly damaging |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,867 (GRCm39) |
K360E |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Vmn2r33 |
T |
C |
7: 7,557,168 (GRCm39) |
M511V |
probably benign |
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 |
|
R3077:Zfp628
|
UTSW |
7 |
4,924,199 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3964: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'- AGGAGGTGGAAACGCTTTC -3'
(R):5'- TATTAGCAAGTCCAGCCAGCAG -3'
Sequencing Primer
(F):5'- GAAACGCTTTCCCCCGGTC -3'
(R):5'- CCCAGCTGAGGAGAACAGTTAATTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation