Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Zfp397'

349621

Institutional Source

Beutler Lab

Gene Symbol

Zfp397

Ensembl Gene

ENSMUSG00000024276

Gene Name

zinc finger protein 397

Synonyms

2810411K16Rik, 6720480F11Rik

MMRRC Submission

042013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24087749-24097730 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24093854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 446 (Y446*)

Ref Sequence

ENSEMBL: ENSMUSP00000057253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060762] [ENSMUST00000225682]

AlphaFold

Q7TNK4

Predicted Effect

probably null
Transcript: ENSMUST00000060762
AA Change: Y446*

SMART Domains

Protein: ENSMUSP00000057253
Gene: ENSMUSG00000024276
AA Change: Y446*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224107

Predicted Effect

probably benign
Transcript: ENSMUST00000225682

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Abcd3	T	A	3: 121,567,815 (GRCm39)	T409S	possibly damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Anxa7	T	C	14: 20,517,983 (GRCm39)	M128V	probably benign	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Capn7	A	T	14: 31,081,216 (GRCm39)	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gnl2	T	G	4: 124,947,266 (GRCm39)	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Kctd17	T	A	15: 78,319,959 (GRCm39)		probably benign	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	probably 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
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
R8213:Zfp397	UTSW	18	24,093,779 (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'- CCTGTGCCTAAAAGCCTTCC -3'

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

Posted On

2015-10-08