Incidental Mutation 'R3744:Zfp36'
| ID |
271121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp36
|
| Ensembl Gene |
ENSMUSG00000044786 |
| Gene Name |
zinc finger protein 36 |
| Synonyms |
Tis11, Nup475, Zfp-36, Tristetraprolin, Ttp |
| MMRRC Submission |
040730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R3744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28076208-28078680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28077201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 236
(S236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051241]
[ENSMUST00000209061]
|
| AlphaFold |
P22893 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051241
AA Change: S248P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057815
Gene: ENSMUSG00000044786
AA Change: S248P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
95 |
122 |
7.54e-10 |
SMART |
|
ZnF_C3H1
|
133 |
160 |
7.31e-8 |
SMART |
|
low complexity region
|
178 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209061
AA Change: S236P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Homozygotes are normal at birth but soon develop myeloid hyperplasia, cachexia, patchy alopecia, dermatitis, arthritis, loss of adiposity, conjunctivitis, glomerular mesangial thickening and autoimmunity, with variable severity. All aspects of the syndrome are normalized by TNF antibody treatment. [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 |
|---|
| Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
| Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
| Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
| Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
| Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
| Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
| Pop5 |
T |
C |
5: 115,378,567 (GRCm39) |
Y117H |
possibly damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
| Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
| Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
probably benign |
Het |
|
| Other mutations in Zfp36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01729:Zfp36
|
APN |
7 |
28,077,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02094:Zfp36
|
APN |
7 |
28,077,188 (GRCm39) |
missense |
probably benign |
|
|
R0241:Zfp36
|
UTSW |
7 |
28,077,759 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0241:Zfp36
|
UTSW |
7 |
28,077,759 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0288:Zfp36
|
UTSW |
7 |
28,077,666 (GRCm39) |
missense |
probably benign |
|
|
R1941:Zfp36
|
UTSW |
7 |
28,077,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3625:Zfp36
|
UTSW |
7 |
28,077,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4385:Zfp36
|
UTSW |
7 |
28,077,116 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5387:Zfp36
|
UTSW |
7 |
28,077,293 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9787:Zfp36
|
UTSW |
7 |
28,077,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACTTGTCACTCAGAGAC -3'
(R):5'- TGCTGCGACAAAGCATCAG -3'
Sequencing Primer
(F):5'- CTTGTCACTCAGAGACAGAGATACG -3'
(R):5'- GCATCAGCTTCTCCGGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation