Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Zfp398'

582557

Institutional Source

Beutler Lab

Gene Symbol

Zfp398

Ensembl Gene

ENSMUSG00000062519

Gene Name

zinc finger protein 398

Synonyms

5730513I23Rik

MMRRC Submission

045591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47812595-47850471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47836407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 201 (H201R)

Ref Sequence

ENSEMBL: ENSMUSP00000078806 (fasta)

Gene Model

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

AlphaFold

Q8BV16

Predicted Effect

probably benign
Transcript: ENSMUST00000079881
AA Change: H201R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: H201R

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: H69R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: H69R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	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
R5166:Zfp398	UTSW	6	47,842,838 (GRCm39)	missense	probably benign
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
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'- ACCTGCTTCCTTGAGTAGCTG -3'
(R):5'- TTCTCTAGCCAAGAAAAGGAGC -3'

Sequencing Primer
(F):5'- CTTCCTTGAGTAGCTGTTGTAAATAG -3'
(R):5'- CAGTGGTCTAGAGTTCAATTCCAGC -3'

Posted On

2019-10-17