Incidental Mutation 'R2863:Zfp35'
| ID |
253067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp35
|
| Ensembl Gene |
ENSMUSG00000063281 |
| Gene Name |
zinc finger protein 35 |
| Synonyms |
Zfp-35 |
| MMRRC Submission |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R2863 (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 A
at 24137352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 565
(D565E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074941]
|
| AlphaFold |
P15620 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074941
AA Change: D565E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074475
Gene: ENSMUSG00000063281
AA Change: D565E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
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 |
|
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'- ATCTCATAAAGCATCAGAGGGTCC -3'
(R):5'- ACTGACCTGCTTTGATTCCGC -3'
Sequencing Primer
(F):5'- ATATGCGTGTACACAGTGCC -3'
(R):5'- CTGCTTTGATTCCGCCTGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation