Incidental Mutation 'R2317:Zfp35'
| ID |
245544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp35
|
| Ensembl Gene |
ENSMUSG00000063281 |
| Gene Name |
zinc finger protein 35 |
| Synonyms |
Zfp-35 |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24122689-24138433 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24136555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 300
(Y300H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074941]
|
| AlphaFold |
P15620 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074941
AA Change: Y300H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074475
Gene: ENSMUSG00000063281
AA Change: Y300H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,655,906 (GRCm39) |
Y244H |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
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 |
|
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 |
|
R7858:Zfp35
|
UTSW |
18 |
24,136,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCACTCAGGCATGGTTAAAC -3'
(R):5'- AGGTTGGAACTCTGACTGAAAG -3'
Sequencing Primer
(F):5'- GCACTCAGGCATGGTTAAACATCTG -3'
(R):5'- CACTGACTACATGGGTAAGGCTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation