Incidental Mutation 'IGL02742:Zfp37'
| ID |
305933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.373)
|
| Stock # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62107774-62127634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62110548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 172
(C172F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068822]
[ENSMUST00000129511]
[ENSMUST00000220873]
[ENSMUST00000221329]
[ENSMUST00000222050]
[ENSMUST00000222748]
|
| AlphaFold |
P17141 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068822
AA Change: C213F
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389
AA Change: C213F
| 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 benign
Transcript: ENSMUST00000129511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148664
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220873
AA Change: C172F
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221329
AA Change: C210F
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222050
AA Change: C209F
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222748
AA Change: C172F
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Tmem219 |
A |
G |
7: 126,496,220 (GRCm39) |
L74P |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation