Mutagenetix > Incidental Mutation

Incidental Mutation 'R9000:Zfp37'

684900

Institutional Source

Beutler Lab

Gene Symbol

Zfp37

Ensembl Gene

ENSMUSG00000028389

Gene Name

zinc finger protein 37

Synonyms

Zfp-37, Tzn

MMRRC Submission

068831-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R9000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62107774-62127634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62126651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 69 (K69T)

Ref Sequence

ENSEMBL: ENSMUSP00000148492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068822] [ENSMUST00000129511] [ENSMUST00000212325] [ENSMUST00000220873] [ENSMUST00000221329] [ENSMUST00000222050] [ENSMUST00000222748]

AlphaFold

P17141

Predicted Effect

probably benign
Transcript: ENSMUST00000068822

SMART Domains

Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389

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

unknown
Transcript: ENSMUST00000212325
AA Change: K69T

Predicted Effect

probably benign
Transcript: ENSMUST00000220873

Predicted Effect

probably benign
Transcript: ENSMUST00000221329

Predicted Effect

probably benign
Transcript: ENSMUST00000222050

Predicted Effect

probably benign
Transcript: ENSMUST00000222748

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

90% (55/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,195 (GRCm39)	N749S	probably damaging	Het
Acsl5	T	C	19: 55,283,943 (GRCm39)	*684Q	probably null	Het
Actr5	A	T	2: 158,478,610 (GRCm39)	T487S	probably benign	Het
Adam18	T	A	8: 25,127,162 (GRCm39)	H478L	probably benign	Het
Adam5	A	T	8: 25,294,372 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,854,570 (GRCm39)	N475S	probably benign	Het
Akap9	G	A	5: 4,105,650 (GRCm39)	R2907H	probably benign	Het
Anapc1	A	G	2: 128,476,628 (GRCm39)	V1330A	probably damaging	Het
Arhgef37	A	T	18: 61,637,333 (GRCm39)	M443K	possibly damaging	Het
Atp13a1	T	A	8: 70,254,725 (GRCm39)	H753Q	probably damaging	Het
C2cd3	A	G	7: 100,065,281 (GRCm39)	H311R		Het
Cdh23	A	G	10: 60,140,277 (GRCm39)	Y3222H	possibly damaging	Het
Ces2f	A	G	8: 105,677,661 (GRCm39)	D222G	probably benign	Het
Cnot9	C	T	1: 74,561,544 (GRCm39)	R130C	probably benign	Het
Cntnap2	G	A	6: 46,461,139 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,769,197 (GRCm39)	L932P	probably damaging	Het
Dgki	T	C	6: 37,074,643 (GRCm39)		probably benign	Het
Dync1h1	A	C	12: 110,606,397 (GRCm39)	Q2489P	probably benign	Het
Elovl2	A	G	13: 41,338,810 (GRCm39)	L280S	probably benign	Het
Fat1	C	A	8: 45,497,587 (GRCm39)	Y4357*	probably null	Het
Fat3	T	A	9: 15,871,816 (GRCm39)	Q3525L	possibly damaging	Het
Fat3	T	C	9: 15,918,095 (GRCm39)	I1443V	probably benign	Het
Fzd1	A	G	5: 4,806,211 (GRCm39)	I457T	probably damaging	Het
Kcnq5	G	T	1: 21,557,483 (GRCm39)	F332L	probably damaging	Het
Meiob	A	G	17: 25,047,916 (GRCm39)		probably benign	Het
Mrgprb4	A	G	7: 47,848,769 (GRCm39)	L53P	probably damaging	Het
Myt1l	G	A	12: 29,901,740 (GRCm39)	V832I	unknown	Het
Nckap5l	G	A	15: 99,321,310 (GRCm39)	P1186S	probably damaging	Het
Ndufa4l2	A	T	10: 127,350,898 (GRCm39)	R16S	probably benign	Het
Nrg2	T	C	18: 36,151,682 (GRCm39)	Y620C	probably damaging	Het
Or4p4b-ps1	T	A	2: 88,454,525 (GRCm39)	*293R	probably null	Het
Or52a24	T	C	7: 103,381,672 (GRCm39)	S180P	probably damaging	Het
Pip4k2a	T	G	2: 18,877,240 (GRCm39)	Y165S	possibly damaging	Het
Plcd4	T	A	1: 74,601,024 (GRCm39)	C500*	probably null	Het
Plcl1	C	T	1: 55,736,990 (GRCm39)	P777L	probably damaging	Het
Pnliprp2	T	C	19: 58,762,555 (GRCm39)	Y387H	probably benign	Het
Prdm15	A	T	16: 97,595,470 (GRCm39)	D1119E	probably benign	Het
Prss51	T	C	14: 64,332,420 (GRCm39)	S36P	possibly damaging	Het
Prune1	A	G	3: 95,162,635 (GRCm39)	V346A	probably benign	Het
Saxo5	T	C	8: 3,526,083 (GRCm39)	S79P	possibly damaging	Het
Scn5a	T	C	9: 119,321,171 (GRCm39)	T1464A	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGG	GGGGCCCAGCTCAGCCACAGGG	7: 126,066,743 (GRCm39)		probably benign	Het
Sim1	T	G	10: 50,860,316 (GRCm39)	I726S	probably benign	Het
Sim1	T	G	10: 50,860,317 (GRCm39)	I726M	possibly damaging	Het
Slc38a4	G	A	15: 96,897,475 (GRCm39)	P447S	possibly damaging	Het
Slc5a12	A	G	2: 110,454,525 (GRCm39)	E362G	probably damaging	Het
Slc5a8	C	A	10: 88,762,089 (GRCm39)	N576K	probably benign	Het
Slc5a8	T	A	10: 88,762,090 (GRCm39)	Y577N	probably benign	Het
Snn	A	G	16: 10,890,322 (GRCm39)	E47G	probably damaging	Het
Snx19	T	C	9: 30,375,619 (GRCm39)	V207A	unknown	Het
Srcap	G	A	7: 127,130,943 (GRCm39)	V720I	possibly damaging	Het
Syn3	T	A	10: 85,893,489 (GRCm39)	R451S	unknown	Het
Tdrp	A	G	8: 14,003,989 (GRCm39)	V116A	probably benign	Het
Tef	G	A	15: 81,695,773 (GRCm39)	M1I	probably null	Het
Vmn1r232	T	C	17: 21,134,111 (GRCm39)	K163R	probably damaging	Het
Wrnip1	A	G	13: 32,986,711 (GRCm39)	E164G	probably damaging	Het
Zcchc14	T	G	8: 122,336,880 (GRCm39)	H178P	unknown	Het
Zfp947	A	G	17: 22,365,161 (GRCm39)	L171P	probably benign	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
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
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'- ACCTTGGTCCCTTAGAACACCG -3'
(R):5'- GAACCAGGACTCACGAATCG -3'

Sequencing Primer
(F):5'- TTAGAACACCGGCCTTCCC -3'
(R):5'- GGACTCACGAATCGCCAGC -3'

Posted On

2021-10-11