Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Zfp37'

243846

Institutional Source

Beutler Lab

Gene Symbol

Zfp37

Ensembl Gene

ENSMUSG00000028389

Gene Name

zinc finger protein 37

Synonyms

Zfp-37, Tzn

MMRRC Submission

040262-MU

Accession Numbers

Genbank: NM_009554.3; Ensembl: ENSMUST00000068822

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62189540-62231047 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62191636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 397 (L397Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152400 (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: L438Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389
AA Change: L438Q

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: L84Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148664

Predicted Effect

probably damaging
Transcript: ENSMUST00000220873
AA Change: L397Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221329
AA Change: L435Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222050
AA Change: L434Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222748
AA Change: L397Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
Ahdc1	A	G	4: 133,063,163	T572A	unknown	Het
Bco1	T	C	8: 117,133,025	L489S	probably damaging	Het
Brinp1	A	G	4: 68,829,354	Y171H	probably damaging	Het
C1rl	A	T	6: 124,506,948	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,491,016	V29A	possibly damaging	Het
Calcrl	T	C	2: 84,345,173	D279G	probably damaging	Het
Cass4	T	C	2: 172,427,254	S421P	probably damaging	Het
Casz1	G	T	4: 148,929,099	R40L	probably damaging	Het
Cdh23	A	G	10: 60,317,128	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,211,958	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,016,559	M142K	probably damaging	Het
Cfap161	C	T	7: 83,793,372	V78I	probably benign	Het
Chst8	T	A	7: 34,676,010	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dcc	C	T	18: 71,374,551	E917K	probably damaging	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dnajc3	A	G	14: 118,960,820	Q118R	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,757,404	L375F	probably damaging	Het
Gbp8	T	C	5: 105,016,133	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,657,112	M117V	probably benign	Het
Hcar1	A	C	5: 123,878,586	D347E	probably benign	Het
Kif16b	T	C	2: 142,740,917	K563E	probably damaging	Het
Klra17	A	G	6: 129,874,794		probably null	Het
Krt35	C	T	11: 100,095,767	M140I	probably benign	Het
Lamb2	A	T	9: 108,480,610	I111F	probably damaging	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Noa1	G	A	5: 77,309,804	Q85*	probably null	Het
Nsun4	A	T	4: 116,052,950	S138T	probably benign	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Pde1a	T	A	2: 80,128,931		probably benign	Het
Pdgfra	T	C	5: 75,185,523	V778A	probably benign	Het
Plekhj1	A	T	10: 80,796,472	N55K	probably benign	Het
Ptpn20	A	G	14: 33,612,311	M49V	probably benign	Het
Rbm6	A	G	9: 107,791,090	L547P	probably damaging	Het
Rexo1	C	T	10: 80,549,569	E552K	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,478,975	D109N	probably damaging	Het
Setd2	A	G	9: 110,561,243		probably benign	Het
Slc22a28	T	C	19: 8,071,208	Y358C	probably benign	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Ssh1	T	C	5: 113,942,703	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,541,895	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,903,591	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,706,933	N746I	probably damaging	Het
Tuba1c	A	G	15: 99,037,876	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,527,445	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,240,086	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,474,619	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,217,944	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,556,669	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vmn2r67	T	C	7: 85,136,974	T608A	probably damaging	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Zfp180	T	G	7: 24,104,624	V156G	probably benign	Het

Other mutations in Zfp37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02742:Zfp37	APN	4	62192311	missense	possibly damaging	0.69
B6584:Zfp37	UTSW	4	62191378	missense	probably damaging	1.00
R0383:Zfp37	UTSW	4	62191885	start codon destroyed	probably null	0.61
R0457:Zfp37	UTSW	4	62191665	nonsense	probably null
R1258:Zfp37	UTSW	4	62191817	missense	probably damaging	1.00
R2072:Zfp37	UTSW	4	62191708	missense	probably damaging	1.00
R2073:Zfp37	UTSW	4	62191708	missense	probably damaging	1.00
R2261:Zfp37	UTSW	4	62191636	missense	probably damaging	1.00
R2507:Zfp37	UTSW	4	62191256	missense	probably damaging	1.00
R2897:Zfp37	UTSW	4	62191777	missense	probably damaging	1.00
R2898:Zfp37	UTSW	4	62191777	missense	probably damaging	1.00
R3826:Zfp37	UTSW	4	62192563	missense	probably benign	0.00
R3879:Zfp37	UTSW	4	62191335	nonsense	probably null
R4034:Zfp37	UTSW	4	62191696	missense	probably damaging	1.00
R4491:Zfp37	UTSW	4	62192128	missense	probably benign	0.07
R4823:Zfp37	UTSW	4	62191503	missense	probably benign	0.18
R5186:Zfp37	UTSW	4	62191256	missense	probably damaging	1.00
R5650:Zfp37	UTSW	4	62191765	missense	probably damaging	1.00
R5886:Zfp37	UTSW	4	62191234	missense	probably damaging	1.00
R5925:Zfp37	UTSW	4	62191213	missense	possibly damaging	0.47
R7050:Zfp37	UTSW	4	62191671	missense	possibly damaging	0.72
R7553:Zfp37	UTSW	4	62191999	missense	probably damaging	1.00
R7583:Zfp37	UTSW	4	62192016	start gained	probably benign
R7646:Zfp37	UTSW	4	62191295	missense	probably damaging	0.99
R8061:Zfp37	UTSW	4	62191428	nonsense	probably null
R8076:Zfp37	UTSW	4	62191316	missense	possibly damaging	0.67
R8477:Zfp37	UTSW	4	62192003	missense	probably damaging	1.00
R8756:Zfp37	UTSW	4	62192134	missense	possibly damaging	0.94
R9000:Zfp37	UTSW	4	62208414	missense	unknown
R9362:Zfp37	UTSW	4	62192062	missense	probably benign	0.11
R9400:Zfp37	UTSW	4	62191667	missense	probably damaging	1.00
X0026:Zfp37	UTSW	4	62205089	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTTTCCCACATTCAACA -3'
(R):5'- TGGCAAAGCACACGGACAT -3'

Sequencing Primer
(F):5'- CATTCAACACACTCATAGGGTTTC -3'
(R):5'- CCTAAGATCTCACACGGGTG -3'

Posted On

2014-10-16