Incidental Mutation 'R1258:Zfp37'
| ID |
151516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp37
|
| Ensembl Gene |
ENSMUSG00000028389 |
| Gene Name |
zinc finger protein 37 |
| Synonyms |
Zfp-37, Tzn |
| MMRRC Submission |
039325-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
R1258 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62107774-62127634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62110054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 375
(Y375N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068822]
[ENSMUST00000129511]
[ENSMUST00000220873]
[ENSMUST00000221329]
[ENSMUST00000222050]
[ENSMUST00000222748]
|
| AlphaFold |
P17141 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068822
AA Change: Y378N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389
AA Change: Y378N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
62 |
5.89e-12 |
SMART |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
255 |
277 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
9.88e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129511
AA Change: Y24N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148664
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220873
AA Change: Y337N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221329
AA Change: Y375N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222050
AA Change: Y374N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222748
AA Change: Y337N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,539,176 (GRCm39) |
E112G |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,390,122 (GRCm39) |
N17D |
probably benign |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Igsf9 |
G |
A |
1: 172,319,722 (GRCm39) |
R339H |
probably benign |
Het |
| Inpp5a |
G |
T |
7: 139,105,660 (GRCm39) |
G212C |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,723,464 (GRCm39) |
E1133G |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,587 (GRCm39) |
I126L |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,689,446 (GRCm39) |
V184A |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,280 (GRCm39) |
A216V |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| St8sia6 |
T |
C |
2: 13,661,695 (GRCm39) |
M379V |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,154,225 (GRCm39) |
L2144H |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,923,917 (GRCm39) |
L44H |
probably damaging |
Het |
| Ythdf1 |
C |
A |
2: 180,553,103 (GRCm39) |
A371S |
probably benign |
Het |
| Zdhhc16 |
G |
A |
19: 41,926,483 (GRCm39) |
V89M |
possibly damaging |
Het |
| Zmat3 |
A |
T |
3: 32,397,820 (GRCm39) |
N147K |
probably damaging |
Het |
|
| Other mutations in Zfp37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02742:Zfp37
|
APN |
4 |
62,110,548 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
B6584:Zfp37
|
UTSW |
4 |
62,109,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Zfp37
|
UTSW |
4 |
62,110,122 (GRCm39) |
start codon destroyed |
probably null |
0.61 |
|
R0457:Zfp37
|
UTSW |
4 |
62,109,902 (GRCm39) |
nonsense |
probably null |
|
|
R2072:Zfp37
|
UTSW |
4 |
62,109,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Zfp37
|
UTSW |
4 |
62,109,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Zfp37
|
UTSW |
4 |
62,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Zfp37
|
UTSW |
4 |
62,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Zfp37
|
UTSW |
4 |
62,109,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Zfp37
|
UTSW |
4 |
62,110,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Zfp37
|
UTSW |
4 |
62,110,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Zfp37
|
UTSW |
4 |
62,110,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:Zfp37
|
UTSW |
4 |
62,109,572 (GRCm39) |
nonsense |
probably null |
|
|
R4034:Zfp37
|
UTSW |
4 |
62,109,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Zfp37
|
UTSW |
4 |
62,110,365 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4823:Zfp37
|
UTSW |
4 |
62,109,740 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5186:Zfp37
|
UTSW |
4 |
62,109,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Zfp37
|
UTSW |
4 |
62,110,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Zfp37
|
UTSW |
4 |
62,109,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Zfp37
|
UTSW |
4 |
62,109,450 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7050:Zfp37
|
UTSW |
4 |
62,109,908 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7553:Zfp37
|
UTSW |
4 |
62,110,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Zfp37
|
UTSW |
4 |
62,110,253 (GRCm39) |
start gained |
probably benign |
|
|
R7646:Zfp37
|
UTSW |
4 |
62,109,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8061:Zfp37
|
UTSW |
4 |
62,109,665 (GRCm39) |
nonsense |
probably null |
|
|
R8076:Zfp37
|
UTSW |
4 |
62,109,553 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8477:Zfp37
|
UTSW |
4 |
62,110,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Zfp37
|
UTSW |
4 |
62,110,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9000:Zfp37
|
UTSW |
4 |
62,126,651 (GRCm39) |
missense |
unknown |
|
|
R9362:Zfp37
|
UTSW |
4 |
62,110,299 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9400:Zfp37
|
UTSW |
4 |
62,109,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Zfp37
|
UTSW |
4 |
62,110,644 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0026:Zfp37
|
UTSW |
4 |
62,123,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTCAGTTGTCAGGTTTCCTACAT -3'
(R):5'- GAAATCACACTGCCGTACTCCATCTAAA -3'
Sequencing Primer
(F):5'- ctttcccacattcaacacactc -3'
(R):5'- cagccagaagtcccacc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation