Incidental Mutation 'R5465:Zfp703'
| ID |
433210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp703
|
| Ensembl Gene |
ENSMUSG00000085795 |
| Gene Name |
zinc finger protein 703 |
| Synonyms |
Zeppo1, 1110032O19Rik, Csmn1, End2 |
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R5465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27467364-27471490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27469233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 299
(P299L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127097]
[ENSMUST00000154256]
[ENSMUST00000209411]
[ENSMUST00000209610]
|
| AlphaFold |
P0CL69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127097
|
| SMART Domains |
Protein: ENSMUSP00000132801
Gene: ENSMUSG00000085795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154256
AA Change: P299L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128757
Gene: ENSMUSG00000085795
AA Change: P299L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
275 |
N/A |
INTRINSIC |
|
Pfam:nlz1
|
315 |
369 |
3.6e-24 |
PFAM |
|
low complexity region
|
426 |
442 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
460 |
488 |
1.16e1 |
SMART |
|
low complexity region
|
497 |
541 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210723
|
| Meta Mutation Damage Score |
0.5368 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp1 |
T |
C |
7: 30,136,277 (GRCm39) |
D500G |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,783 (GRCm39) |
I235F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,291 (GRCm39) |
M240L |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Slx4ip |
T |
G |
2: 136,846,867 (GRCm39) |
L44R |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,839,836 (GRCm39) |
I284N |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
|
| Other mutations in Zfp703 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02441:Zfp703
|
APN |
8 |
27,470,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1524:Zfp703
|
UTSW |
8 |
27,469,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Zfp703
|
UTSW |
8 |
27,469,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4049:Zfp703
|
UTSW |
8 |
27,469,113 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4570:Zfp703
|
UTSW |
8 |
27,468,981 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4884:Zfp703
|
UTSW |
8 |
27,468,729 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4929:Zfp703
|
UTSW |
8 |
27,468,879 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4938:Zfp703
|
UTSW |
8 |
27,469,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Zfp703
|
UTSW |
8 |
27,469,619 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5117:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5118:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5492:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5856:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Zfp703
|
UTSW |
8 |
27,469,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6464:Zfp703
|
UTSW |
8 |
27,469,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Zfp703
|
UTSW |
8 |
27,468,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7067:Zfp703
|
UTSW |
8 |
27,469,044 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7812:Zfp703
|
UTSW |
8 |
27,469,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7880:Zfp703
|
UTSW |
8 |
27,468,718 (GRCm39) |
missense |
unknown |
|
|
R8167:Zfp703
|
UTSW |
8 |
27,469,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Zfp703
|
UTSW |
8 |
27,468,302 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9686:Zfp703
|
UTSW |
8 |
27,469,044 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGACTGCAAGAACGGC -3'
(R):5'- CAGTAGGGGTCACGGCATAATC -3'
Sequencing Primer
(F):5'- CCGGCGAACTGGACAAGAA -3'
(R):5'- GTCACGGCATAATCCCTGCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation