Incidental Mutation 'R7858:Zfp704'
| ID |
607325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp704
|
| Ensembl Gene |
ENSMUSG00000040209 |
| Gene Name |
zinc finger protein 704 |
| Synonyms |
Gig1 |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
9492080-9675145 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 9509217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041124]
[ENSMUST00000193947]
|
| AlphaFold |
Q9ERQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041124
|
| SMART Domains |
Protein: ENSMUSP00000041242
Gene: ENSMUSG00000040209
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
290 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
346 |
371 |
3.58e-2 |
SMART |
|
c-clamp
|
536 |
566 |
1.55e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193947
|
| SMART Domains |
Protein: ENSMUSP00000141598
Gene: ENSMUSG00000040209
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
140 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
196 |
221 |
1.6e-4 |
SMART |
|
c-clamp
|
475 |
505 |
7.4e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter (null) allele are viable and fertile with no obvious developmental defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
Het |
|
| Other mutations in Zfp704 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Zfp704
|
APN |
3 |
9,630,299 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03288:Zfp704
|
APN |
3 |
9,504,951 (GRCm39) |
splice site |
probably benign |
|
|
R0265:Zfp704
|
UTSW |
3 |
9,630,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Zfp704
|
UTSW |
3 |
9,674,424 (GRCm39) |
missense |
unknown |
|
|
R1466:Zfp704
|
UTSW |
3 |
9,512,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1466:Zfp704
|
UTSW |
3 |
9,512,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1647:Zfp704
|
UTSW |
3 |
9,536,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Zfp704
|
UTSW |
3 |
9,536,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Zfp704
|
UTSW |
3 |
9,539,551 (GRCm39) |
splice site |
probably benign |
|
|
R1912:Zfp704
|
UTSW |
3 |
9,674,418 (GRCm39) |
missense |
unknown |
|
|
R2109:Zfp704
|
UTSW |
3 |
9,539,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Zfp704
|
UTSW |
3 |
9,674,553 (GRCm39) |
missense |
unknown |
|
|
R3551:Zfp704
|
UTSW |
3 |
9,539,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Zfp704
|
UTSW |
3 |
9,536,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6165:Zfp704
|
UTSW |
3 |
9,508,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6682:Zfp704
|
UTSW |
3 |
9,630,253 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7057:Zfp704
|
UTSW |
3 |
9,535,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Zfp704
|
UTSW |
3 |
9,539,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Zfp704
|
UTSW |
3 |
9,509,282 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8104:Zfp704
|
UTSW |
3 |
9,630,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8373:Zfp704
|
UTSW |
3 |
9,674,502 (GRCm39) |
missense |
unknown |
|
|
R8877:Zfp704
|
UTSW |
3 |
9,674,416 (GRCm39) |
missense |
unknown |
|
|
R9136:Zfp704
|
UTSW |
3 |
9,509,324 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Zfp704
|
UTSW |
3 |
9,536,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTAGCTGAAATTGGAAC -3'
(R):5'- TGATTTGCCATTTGACACTACCTG -3'
Sequencing Primer
(F):5'- GATTTAGCATACACACCTCTGGGAG -3'
(R):5'- CTGGACATGCCTCTGGGAAATTATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation