Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Zfp397'

636290

Institutional Source

Beutler Lab

Gene Symbol

Zfp397

Ensembl Gene

ENSMUSG00000024276

Gene Name

zinc finger protein 397

Synonyms

2810411K16Rik, 6720480F11Rik

MMRRC Submission

067655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24087749-24097730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24093779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 421 (N421K)

Ref Sequence

ENSEMBL: ENSMUSP00000057253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060762]

AlphaFold

Q7TNK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060762
AA Change: N421K

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

SMART Domains

Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: N421K

Domain	Start	End	E-Value	Type
SCAN	46	158	4e-68	SMART
ZnF_C2H2	278	300	1.58e-3	SMART
ZnF_C2H2	306	328	7.37e-4	SMART
ZnF_C2H2	334	356	1.22e-4	SMART
ZnF_C2H2	362	384	9.58e-3	SMART
ZnF_C2H2	390	412	3.95e-4	SMART
ZnF_C2H2	418	440	1.6e-4	SMART
ZnF_C2H2	446	468	4.54e-4	SMART
ZnF_C2H2	474	496	3.49e-5	SMART
ZnF_C2H2	502	524	2.12e-4	SMART

Meta Mutation Damage Score

0.2088

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,461,630 (GRCm39)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or10a49	C	A	7: 108,467,726 (GRCm39)	V212L	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,073,256 (GRCm39)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,594,536 (GRCm39)	I228V	probably benign	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,669,137 (GRCm39)	M39V	probably benign	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Zfp397

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01903:Zfp397	APN	18	24,093,086 (GRCm39)	missense	probably benign
ANU22:Zfp397	UTSW	18	24,093,808 (GRCm39)	missense	probably damaging	1.00
R1986:Zfp397	UTSW	18	24,093,108 (GRCm39)	missense	possibly damaging	0.72
R4676:Zfp397	UTSW	18	24,093,854 (GRCm39)	nonsense	probably null
R4824:Zfp397	UTSW	18	24,093,249 (GRCm39)	missense	probably benign	0.02
R5471:Zfp397	UTSW	18	24,093,081 (GRCm39)	missense	probably benign	0.00
R5735:Zfp397	UTSW	18	24,093,249 (GRCm39)	missense	possibly damaging	0.76
R7134:Zfp397	UTSW	18	24,090,122 (GRCm39)	missense	probably benign
R7231:Zfp397	UTSW	18	24,093,415 (GRCm39)	missense	probably damaging	1.00
R7753:Zfp397	UTSW	18	24,090,129 (GRCm39)	missense	probably benign	0.00
R8135:Zfp397	UTSW	18	24,089,564 (GRCm39)	missense	probably damaging	1.00
R8251:Zfp397	UTSW	18	24,093,361 (GRCm39)	missense	probably benign	0.13
R9164:Zfp397	UTSW	18	24,089,828 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATCTTGATGAATCTCAAAGATGC -3'
(R):5'- ACCTGTGCCTAAAAGCCTTC -3'

Sequencing Primer
(F):5'- TGGAAAGGCCTTCAATCAGAGCTC -3'
(R):5'- ATATATACGCTTCATCCCCAGAGTGG -3'

Posted On

2020-07-13