Incidental Mutation 'R6867:Zfp703'
ID |
535976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp703
|
Ensembl Gene |
ENSMUSG00000085795 |
Gene Name |
zinc finger protein 703 |
Synonyms |
Zeppo1, 1110032O19Rik, Csmn1, End2 |
MMRRC Submission |
045028-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.364)
|
Stock # |
R6867 (G1)
|
Quality Score |
218.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
27467364-27471490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 27468668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 111
(P111T)
|
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: P111T
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128757 Gene: ENSMUSG00000085795 AA Change: P111T
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 |
unknown
Transcript: ENSMUST00000209411
AA Change: A34D
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209610
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
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 |
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 |
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'- CCACAAGGCAAGTGTCATTC -3'
(R):5'- CGAGTTTGATGAGGTGGAGACC -3'
Sequencing Primer
(F):5'- AAGTGTCATTCCGCCCAG -3'
(R):5'- ACGAGGAGCCGCTGTCTTTG -3'
|
Posted On |
2018-10-18 |