Incidental Mutation 'R7858:Zfp35'
| ID |
607349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp35
|
| Ensembl Gene |
ENSMUSG00000063281 |
| Gene Name |
zinc finger protein 35 |
| Synonyms |
Zfp-35 |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.335)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
24122689-24138433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24136897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 414
(C414R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074941]
|
| AlphaFold |
P15620 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074941
AA Change: C414R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074475
Gene: ENSMUSG00000063281
AA Change: C414R
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
78 |
100 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
524 |
545 |
2.17e1 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.6e-4 |
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 knock-out mutation exhibit increased airway responsiveness to ovalbumin and methacholine. [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 |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
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 Zfp35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0012:Zfp35
|
UTSW |
18 |
24,136,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1453:Zfp35
|
UTSW |
18 |
24,136,557 (GRCm39) |
nonsense |
probably null |
|
|
R1807:Zfp35
|
UTSW |
18 |
24,136,986 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2317:Zfp35
|
UTSW |
18 |
24,136,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Zfp35
|
UTSW |
18 |
24,137,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3080:Zfp35
|
UTSW |
18 |
24,136,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3756:Zfp35
|
UTSW |
18 |
24,135,982 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4114:Zfp35
|
UTSW |
18 |
24,135,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4222:Zfp35
|
UTSW |
18 |
24,136,246 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4780:Zfp35
|
UTSW |
18 |
24,136,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Zfp35
|
UTSW |
18 |
24,137,194 (GRCm39) |
nonsense |
probably null |
|
|
R5261:Zfp35
|
UTSW |
18 |
24,136,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5375:Zfp35
|
UTSW |
18 |
24,135,973 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6001:Zfp35
|
UTSW |
18 |
24,135,816 (GRCm39) |
missense |
probably benign |
|
|
R6190:Zfp35
|
UTSW |
18 |
24,137,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6774:Zfp35
|
UTSW |
18 |
24,136,015 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6850:Zfp35
|
UTSW |
18 |
24,135,839 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6979:Zfp35
|
UTSW |
18 |
24,136,927 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7029:Zfp35
|
UTSW |
18 |
24,136,583 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7079:Zfp35
|
UTSW |
18 |
24,136,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8257:Zfp35
|
UTSW |
18 |
24,137,288 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9477:Zfp35
|
UTSW |
18 |
24,136,188 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9642:Zfp35
|
UTSW |
18 |
24,137,155 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGAGAGAAGCCTTACCC -3'
(R):5'- CGGTTTCTCTCCAGTGTGG -3'
Sequencing Primer
(F):5'- GAAGCCTTACCCATGTAGTCAGTG -3'
(R):5'- GCACTGTGTACACGCATATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation