Incidental Mutation 'R5757:Zfp703'
ID |
445103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp703
|
Ensembl Gene |
ENSMUSG00000085795 |
Gene Name |
zinc finger protein 703 |
Synonyms |
Zeppo1, 1110032O19Rik, Csmn1, End2 |
MMRRC Submission |
043360-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
R5757 (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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,166,165 (GRCm39) |
C296S |
probably benign |
Het |
Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
Ints13 |
G |
A |
6: 146,451,604 (GRCm39) |
R714C |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,088,755 (GRCm39) |
W182R |
probably damaging |
Het |
Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
Wdr4 |
A |
T |
17: 31,718,063 (GRCm39) |
V337E |
probably damaging |
Het |
Zbtb11 |
A |
G |
16: 55,827,392 (GRCm39) |
N953D |
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 |
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'- ACTCAGACTGCAAGAACGG -3'
(R):5'- TAGGGGTCACGGCATAATCC -3'
Sequencing Primer
(F):5'- CTGCAAGAACGGCGGCG -3'
(R):5'- GTCACGGCATAATCCCTGCAG -3'
|
Posted On |
2016-11-21 |