Incidental Mutation 'R5758:Zfp703'
ID |
445145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp703
|
Ensembl Gene |
ENSMUSG00000085795 |
Gene Name |
zinc finger protein 703 |
Synonyms |
Zeppo1, 1110032O19Rik, Csmn1, End2 |
MMRRC Submission |
043203-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
R5758 (G1)
|
Quality Score |
206 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
Dpys |
A |
C |
15: 39,690,395 (GRCm39) |
D319E |
possibly damaging |
Het |
Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
Lhcgr |
T |
C |
17: 89,049,976 (GRCm39) |
I517V |
probably damaging |
Het |
Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
Nipal3 |
T |
C |
4: 135,179,874 (GRCm39) |
D348G |
probably benign |
Het |
Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,780,256 (GRCm39) |
*633Q |
probably null |
Het |
Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
Zfp563 |
A |
G |
17: 33,323,894 (GRCm39) |
H163R |
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 |
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'- CACTCAGACTGCAAGAACGG -3'
(R):5'- TAGGGGTCACGGCATAATCC -3'
Sequencing Primer
(F):5'- CTGCAAGAACGGCGGCG -3'
(R):5'- GTCACGGCATAATCCCTGCAG -3'
|
Posted On |
2016-11-21 |