Incidental Mutation 'R1081:Zfp628'
| ID |
152692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp628
|
| Ensembl Gene |
ENSMUSG00000074406 |
| Gene Name |
zinc finger protein 628 |
| Synonyms |
Zec |
| MMRRC Submission |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.656)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
89 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4918216-4925001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4923182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 468
(H468R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047309]
[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 damaging
Transcript: ENSMUST00000116354
AA Change: H468R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406
AA Change: H468R
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,093,384 (GRCm39) |
Y785C |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
probably damaging |
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 |
|
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 |
|
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'- TTTGGCTGCTGCTGAGACTACAG -3'
(R):5'- TGATAGTGGGACGACCACTTGAAGG -3'
Sequencing Primer
(F):5'- TTGGCTCACCAGCAGTGTC -3'
(R):5'- CACTTGAAGGTGAGGCCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation