Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Zfp398'

397295

Institutional Source

Beutler Lab

Gene Symbol

Zfp398

Ensembl Gene

ENSMUSG00000062519

Gene Name

zinc finger protein 398

Synonyms

5730513I23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47812595-47850471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47842838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

Ref Sequence

ENSEMBL: ENSMUSP00000110245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079881] [ENSMUST00000114598]

AlphaFold

Q8BV16

Predicted Effect

probably benign
Transcript: ENSMUST00000079881
AA Change: I297V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: I297V

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
Pfam:DUF3669	43	113	2.9e-10	PFAM
KRAB	143	203	1.38e-17	SMART
low complexity region	278	296	N/A	INTRINSIC
ZnF_C2H2	344	365	6.31e1	SMART
ZnF_C2H2	399	421	3.58e-2	SMART
ZnF_C2H2	428	450	1.36e-2	SMART
ZnF_C2H2	456	478	1.69e-3	SMART
ZnF_C2H2	484	506	2.24e-3	SMART
ZnF_C2H2	512	534	6.78e-3	SMART
ZnF_C2H2	540	562	9.08e-4	SMART
ZnF_C2H2	568	591	5.14e-3	SMART
low complexity region	598	611	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114598
AA Change: I165V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: I165V

Domain	Start	End	E-Value	Type
KRAB	11	71	1.38e-17	SMART
low complexity region	146	164	N/A	INTRINSIC
ZnF_C2H2	212	233	6.31e1	SMART
ZnF_C2H2	267	289	3.58e-2	SMART
ZnF_C2H2	296	318	1.36e-2	SMART
ZnF_C2H2	324	346	1.69e-3	SMART
ZnF_C2H2	352	374	2.24e-3	SMART
ZnF_C2H2	380	402	6.78e-3	SMART
ZnF_C2H2	408	430	9.08e-4	SMART
ZnF_C2H2	436	459	5.14e-3	SMART
low complexity region	466	479	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Carmil1	C	T	13: 24,338,966 (GRCm39)		probably null	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Gzmc	G	A	14: 56,471,433 (GRCm39)	A36V	probably damaging	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Krtap5-2	A	T	7: 141,728,721 (GRCm39)	S320T	unknown	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Mmrn1	A	T	6: 60,953,474 (GRCm39)	H585L	probably benign	Het
Myh14	A	G	7: 44,278,279 (GRCm39)	F1024L	probably damaging	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	probably null	Het

Other mutations in Zfp398

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Zfp398	APN	6	47,842,868 (GRCm39)	missense	probably benign
IGL01543:Zfp398	APN	6	47,842,997 (GRCm39)	missense	probably damaging	1.00
IGL01822:Zfp398	APN	6	47,843,205 (GRCm39)	missense	probably damaging	1.00
IGL02118:Zfp398	APN	6	47,835,879 (GRCm39)	missense	probably damaging	1.00
IGL02454:Zfp398	APN	6	47,817,301 (GRCm39)	missense	possibly damaging	0.93
IGL02725:Zfp398	APN	6	47,842,737 (GRCm39)	missense	probably benign	0.00
R0453:Zfp398	UTSW	6	47,842,782 (GRCm39)	missense	probably benign	0.01
R0635:Zfp398	UTSW	6	47,840,074 (GRCm39)	missense	probably damaging	1.00
R1759:Zfp398	UTSW	6	47,836,412 (GRCm39)	missense	possibly damaging	0.92
R2366:Zfp398	UTSW	6	47,840,143 (GRCm39)	missense	possibly damaging	0.93
R2696:Zfp398	UTSW	6	47,843,879 (GRCm39)	makesense	probably null
R4090:Zfp398	UTSW	6	47,843,159 (GRCm39)	missense	probably damaging	1.00
R4157:Zfp398	UTSW	6	47,812,843 (GRCm39)	missense	probably benign
R4610:Zfp398	UTSW	6	47,817,361 (GRCm39)	missense	probably damaging	1.00
R4784:Zfp398	UTSW	6	47,817,186 (GRCm39)	missense	probably benign
R4849:Zfp398	UTSW	6	47,836,446 (GRCm39)	missense	possibly damaging	0.79
R5289:Zfp398	UTSW	6	47,840,115 (GRCm39)	missense	probably benign
R5877:Zfp398	UTSW	6	47,817,638 (GRCm39)	intron	probably benign
R6326:Zfp398	UTSW	6	47,843,355 (GRCm39)	missense	possibly damaging	0.90
R6383:Zfp398	UTSW	6	47,843,529 (GRCm39)	missense	probably damaging	1.00
R6825:Zfp398	UTSW	6	47,843,265 (GRCm39)	missense	probably damaging	1.00
R6882:Zfp398	UTSW	6	47,843,016 (GRCm39)	missense	probably damaging	0.99
R7038:Zfp398	UTSW	6	47,843,243 (GRCm39)	missense	probably damaging	1.00
R7114:Zfp398	UTSW	6	47,842,910 (GRCm39)	missense	probably benign	0.00
R7386:Zfp398	UTSW	6	47,835,884 (GRCm39)	missense	probably benign	0.05
R7519:Zfp398	UTSW	6	47,836,407 (GRCm39)	missense	probably benign	0.00
R7525:Zfp398	UTSW	6	47,842,752 (GRCm39)	missense	probably benign
R7571:Zfp398	UTSW	6	47,843,666 (GRCm39)	missense	probably damaging	1.00
R8374:Zfp398	UTSW	6	47,836,468 (GRCm39)	critical splice donor site	probably null
R9055:Zfp398	UTSW	6	47,843,319 (GRCm39)	missense	possibly damaging	0.73
Z1176:Zfp398	UTSW	6	47,843,789 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGAGAGCCCTTCCCTAAGC -3'
(R):5'- TGAGACTCTTGCCACAATGG -3'

Sequencing Primer
(F):5'- CAGTTAGATGCTTAGAGCCACCTG -3'
(R):5'- GTGGCATGAGAACACCTGCTC -3'

Posted On

2016-07-06