Incidental Mutation 'B6584:Zfp37'
| ID |
628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp37
|
| Ensembl Gene |
ENSMUSG00000028389 |
| Gene Name |
zinc finger protein 37 |
| Synonyms |
Zfp-37, Tzn |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
B6584 (G3)
of strain
supermodel
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62107774-62127634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62109615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 521
(V521E)
|
| 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: V524E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389
AA Change: V524E
| 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: V170E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220873
AA Change: V483E
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221329
AA Change: V521E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222050
AA Change: V520E
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222748
AA Change: V483E
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1087 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
43.9% |
| Validation Efficiency |
89% (133/150) |
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102H20Rik |
C |
T |
17: 3,609,853 (GRCm39) |
|
probably benign |
Homo |
| Acadl |
T |
A |
1: 66,887,632 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
C |
T |
4: 65,910,624 (GRCm39) |
V403M |
probably damaging |
Het |
| Clcc1 |
C |
T |
3: 108,580,229 (GRCm39) |
T302I |
probably damaging |
Homo |
| Hormad1 |
T |
A |
3: 95,478,007 (GRCm39) |
|
probably benign |
Homo |
| Resf1 |
C |
T |
6: 149,230,844 (GRCm39) |
H1297Y |
probably damaging |
Het |
| Rnf213 |
C |
T |
11: 119,316,895 (GRCm39) |
T1007I |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,605,391 (GRCm39) |
N239D |
probably damaging |
Homo |
| Samd4 |
A |
C |
14: 47,253,794 (GRCm39) |
H86P |
probably damaging |
Homo |
| Slc27a2 |
T |
C |
2: 126,403,562 (GRCm39) |
L195P |
possibly damaging |
Het |
| Srek1ip1 |
T |
C |
13: 104,953,882 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,462 (GRCm39) |
|
probably null |
Homo |
|
| 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 |
|
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 |
|
|
R1258:Zfp37
|
UTSW |
4 |
62,110,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to A transversion at position 1656 of the Zfp37 transcript using Ensembl record ENSMUST00000068822 in exon 4 of 4 total exons. Three transcripts of the Zfp37 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a valine to glutamic acid substitution at amino acid 524 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Zfp37 gene encodes a 594 amino acid protein that may have a role in regulating spermatogenesis. The protein contains twelve C2H2-type zinc fingers and one KRAB domain at amino acids 3-74 (Uniprot P17141).
The V524E alteration occurs in the tenth zinc finger.
|
| Posted On |
2011-04-13 |
Incidental Mutation