Mutagenetix > Incidental Mutations

Incidental Mutation 'R4491:Zfp37'

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

Genbank: NM_009554.3; Ensembl: ENSMUST00000068822

Is this an essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62189540-62231047 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62192128 bp

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]

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: 63,898,469	P183T	probably damaging	Het
6430573F11Rik	G	A	8: 36,505,606	C70Y	probably damaging	Het
Bcan	G	A	3: 87,990,233	R682*	probably null	Het
Bzw1	T	A	1: 58,404,259	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,113,040	I48F	probably damaging	Het
Cdhr5	T	C	7: 141,274,057	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,429,171	M480T	probably benign	Het
Col6a5	C	T	9: 105,940,012	A367T	unknown	Het
Colca2	A	G	9: 51,270,655	F206L	probably benign	Het
Cpsf1	A	C	15: 76,597,722	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,228,074	H54L	probably benign	Het
Dmtf1	A	G	5: 9,140,379		probably benign	Het
Dnah12	T	C	14: 26,734,603	L827S	possibly damaging	Het
Dsc3	T	C	18: 20,001,865	T21A	probably benign	Het
Epb41l1	G	T	2: 156,522,168	D866Y	probably benign	Het
Epha1	T	C	6: 42,360,666	M860V	probably damaging	Het
Far2	T	C	6: 148,173,409	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,989,299	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,752,968		probably null	Het
Focad	G	A	4: 88,359,905		probably null	Het
Gm14180	T	A	11: 99,730,313		probably benign	Het
Hbb-bh2	T	C	7: 103,840,415	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,912,480	F2L	probably benign	Het
Igsf5	A	G	16: 96,364,081	T19A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Klb	A	G	5: 65,375,794	N482S	probably benign	Het
Lipo2	A	C	19: 33,721,700	L310R	probably damaging	Het
Mc3r	A	G	2: 172,249,203	H115R	possibly damaging	Het
Meioc	A	G	11: 102,674,920	D398G	possibly damaging	Het
Olfr1130	G	A	2: 87,607,392	M1I	probably null	Het
Olfr1353	T	C	10: 78,970,317	S223P	probably damaging	Het
Olfr683	A	T	7: 105,143,776	C172*	probably null	Het
Pds5a	T	C	5: 65,635,437	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,637	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,734,408		probably null	Het
Plch1	T	C	3: 63,740,739	I404V	probably damaging	Het
Ppp2r5c	A	T	12: 110,580,522	D522V	possibly damaging	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Rapgef1	C	T	2: 29,719,656	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,391,385	D976V	probably damaging	Het
Rasef	A	C	4: 73,734,503	L587R	probably damaging	Het
Rptn	A	T	3: 93,396,511	R384*	probably null	Het
Sema6a	G	A	18: 47,306,457		probably benign	Het
Sycp2	G	T	2: 178,374,985	T608K	probably damaging	Het
Syde1	C	T	10: 78,590,228	R35H	probably benign	Het
Taf1	G	T	X: 101,543,059	M313I	possibly damaging	Het
Taf15	A	T	11: 83,484,694	T31S	probably benign	Het
Tktl2	T	C	8: 66,512,012	V74A	probably damaging	Het
Tle4	A	G	19: 14,454,865	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,777,285	H95R	probably damaging	Het
Vmn1r75	C	A	7: 11,880,982	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,910,193	T1049M	probably benign	Het
Wdr78	T	C	4: 103,066,399	E411G	probably benign	Het
Zfp648	T	G	1: 154,205,127	L344R	probably damaging	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
R2262: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
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
X0026:Zfp37	UTSW	4	62205089	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