Incidental Mutation 'R5856:Zfp703'
| ID |
454911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp703
|
| Ensembl Gene |
ENSMUSG00000085795 |
| Gene Name |
zinc finger protein 703 |
| Synonyms |
Zeppo1, 1110032O19Rik, Csmn1, End2 |
| MMRRC Submission |
043230-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R5856 (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: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Adgrf5 |
A |
G |
17: 43,757,011 (GRCm39) |
T497A |
probably benign |
Het |
| Ano5 |
T |
C |
7: 51,235,074 (GRCm39) |
I669T |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,664,116 (GRCm39) |
N722K |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,407,255 (GRCm39) |
I1161K |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,805 (GRCm39) |
T714A |
possibly damaging |
Het |
| BC051665 |
T |
A |
13: 60,932,314 (GRCm39) |
M92L |
probably benign |
Het |
| Car3 |
G |
A |
3: 14,936,701 (GRCm39) |
V255M |
probably damaging |
Het |
| Cnot11 |
C |
A |
1: 39,576,534 (GRCm39) |
F179L |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,174,847 (GRCm39) |
Y1013C |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,749,579 (GRCm39) |
D420G |
probably benign |
Het |
| Gm5444 |
A |
G |
13: 4,821,683 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,268,474 (GRCm39) |
D2946V |
probably damaging |
Het |
| Hyou1 |
C |
T |
9: 44,292,641 (GRCm39) |
R119C |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,385,222 (GRCm39) |
L246Q |
unknown |
Het |
| Itpr3 |
A |
G |
17: 27,325,379 (GRCm39) |
E1324G |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,583,805 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Muc2 |
C |
A |
7: 141,299,381 (GRCm39) |
|
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,023,840 (GRCm39) |
T1505A |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,250,792 (GRCm39) |
E21G |
probably damaging |
Het |
| Or13c3 |
T |
A |
4: 52,856,516 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,928,254 (GRCm39) |
I6F |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,471,724 (GRCm39) |
I375T |
probably benign |
Het |
| Pou2f1 |
C |
T |
1: 165,742,699 (GRCm39) |
A65T |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,570,620 (GRCm39) |
N271Y |
possibly damaging |
Het |
| Sema5b |
T |
G |
16: 35,466,756 (GRCm39) |
Y219* |
probably null |
Het |
| Slc35f3 |
G |
T |
8: 127,047,819 (GRCm39) |
R53L |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,029 (GRCm39) |
V465A |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,083,797 (GRCm39) |
I446V |
possibly damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,206 (GRCm39) |
D204E |
possibly damaging |
Het |
| Sox5 |
T |
A |
6: 144,155,088 (GRCm39) |
T3S |
probably damaging |
Het |
| Srr |
G |
A |
11: 74,803,838 (GRCm39) |
R40C |
possibly damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,501 (GRCm39) |
H150L |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,401 (GRCm39) |
S678P |
probably benign |
Het |
| Tmem11 |
T |
C |
11: 60,755,684 (GRCm39) |
K183E |
probably damaging |
Het |
| Upf1 |
T |
C |
8: 70,787,412 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,748,674 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,047 (GRCm39) |
S1384L |
probably damaging |
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 |
|
R5465: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 |
|
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'- CACTCAGACTGCAAGAACGG -3'
(R):5'- TAGGGGTCACGGCATAATCC -3'
Sequencing Primer
(F):5'- CTGCAAGAACGGCGGCG -3'
(R):5'- GTCACGGCATAATCCCTGCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation