Incidental Mutation 'R4491:Zfp37'
ID |
330714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp37
|
Ensembl Gene |
ENSMUSG00000028389 |
Gene Name |
zinc finger protein 37 |
Synonyms |
Zfp-37, Tzn |
MMRRC Submission |
041747-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.373)
|
Stock # |
R4491 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
62107774-62127634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62110365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 274
(Q274R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068822]
[ENSMUST00000129511]
[ENSMUST00000220873]
[ENSMUST00000221329]
[ENSMUST00000222050]
[ENSMUST00000222748]
|
AlphaFold |
P17141 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068822
AA Change: Q274R
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000070463 Gene: ENSMUSG00000028389 AA Change: Q274R
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 |
probably benign
Transcript: ENSMUST00000220873
AA Change: Q233R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221329
AA Change: Q271R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222050
AA Change: Q270R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222748
AA Change: Q233R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Meta Mutation Damage Score |
0.1090 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,812 (GRCm39) |
P183T |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,897,540 (GRCm39) |
R682* |
probably null |
Het |
Bzw1 |
T |
A |
1: 58,443,418 (GRCm39) |
L410Q |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,839,672 (GRCm39) |
I48F |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,853,970 (GRCm39) |
N173D |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,513,628 (GRCm39) |
M480T |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,817,211 (GRCm39) |
A367T |
unknown |
Het |
Cpsf1 |
A |
C |
15: 76,481,922 (GRCm39) |
Y1064D |
possibly damaging |
Het |
Defb6 |
A |
T |
8: 19,278,090 (GRCm39) |
H54L |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
Dnai4 |
T |
C |
4: 102,923,596 (GRCm39) |
E411G |
probably benign |
Het |
Dsc3 |
T |
C |
18: 20,134,922 (GRCm39) |
T21A |
probably benign |
Het |
Epb41l1 |
G |
T |
2: 156,364,088 (GRCm39) |
D866Y |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,337,600 (GRCm39) |
M860V |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,966,280 (GRCm39) |
I680V |
possibly damaging |
Het |
Fnbp4 |
T |
C |
2: 90,583,312 (GRCm39) |
|
probably null |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gm14180 |
T |
A |
11: 99,621,139 (GRCm39) |
|
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,489,622 (GRCm39) |
T5A |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,165,281 (GRCm39) |
T19A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,699,100 (GRCm39) |
L310R |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,091,123 (GRCm39) |
H115R |
possibly damaging |
Het |
Meioc |
A |
G |
11: 102,565,746 (GRCm39) |
D398G |
possibly damaging |
Het |
Or10ag60 |
G |
A |
2: 87,437,736 (GRCm39) |
M1I |
probably null |
Het |
Or56a5 |
A |
T |
7: 104,792,983 (GRCm39) |
C172* |
probably null |
Het |
Or7a37 |
T |
C |
10: 78,806,151 (GRCm39) |
S223P |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,792,780 (GRCm39) |
T718A |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pla2g2c |
T |
C |
4: 138,461,719 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,648,160 (GRCm39) |
I404V |
probably damaging |
Het |
Pou2af3 |
A |
G |
9: 51,181,955 (GRCm39) |
F206L |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,546,956 (GRCm39) |
D522V |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Rapgef1 |
C |
T |
2: 29,609,668 (GRCm39) |
P702S |
possibly damaging |
Het |
Rasal3 |
T |
A |
17: 32,610,359 (GRCm39) |
D976V |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,818 (GRCm39) |
R384* |
probably null |
Het |
Sema6a |
G |
A |
18: 47,439,524 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,016,778 (GRCm39) |
T608K |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,426,062 (GRCm39) |
R35H |
probably benign |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Taf15 |
A |
T |
11: 83,375,520 (GRCm39) |
T31S |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,229 (GRCm39) |
V489A |
probably damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Trmt9b |
G |
A |
8: 36,972,760 (GRCm39) |
C70Y |
probably damaging |
Het |
Vmn1r75 |
C |
A |
7: 11,614,909 (GRCm39) |
Q214K |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,817,475 (GRCm39) |
T1049M |
probably benign |
Het |
Zfp648 |
T |
G |
1: 154,080,873 (GRCm39) |
L344R |
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 |
|
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 |
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'- GCCACATTCATTACATTTGTAGGG -3'
(R):5'- ATGTGAGAAAGTATGCCGTCATAG -3'
Sequencing Primer
(F):5'- CCAGTATGGATTCTTAGATGGTCAG -3'
(R):5'- GAAAGTATGCCGTCATAGTGCATCC -3'
|
Posted On |
2015-07-21 |