Mutagenetix > Incidental Mutation

Incidental Mutation 'R9055:Zfp398'

688618

Institutional Source

Beutler Lab

Gene Symbol

Zfp398

Ensembl Gene

ENSMUSG00000062519

Gene Name

zinc finger protein 398

Synonyms

5730513I23Rik

MMRRC Submission

068881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9055 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47812595-47850471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47843319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 457 (R457L)

Ref Sequence

ENSEMBL: ENSMUSP00000078806 (fasta)

Gene Model

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

AlphaFold

Q8BV16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079881
AA Change: R457L

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: R457L

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 damaging
Transcript: ENSMUST00000114598
AA Change: R325L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: R325L

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

Meta Mutation Damage Score

0.1250

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (68/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	A	19: 57,030,398 (GRCm39)	T753S	probably benign	Het
Acy3	A	G	19: 4,038,178 (GRCm39)	E157G	probably benign	Het
Adamts20	A	G	15: 94,181,867 (GRCm39)	Y1609H	probably damaging	Het
Ahnak2	C	T	12: 112,741,019 (GRCm39)	A1018T	possibly damaging	Het
Ahsg	T	A	16: 22,711,069 (GRCm39)	W69R	possibly damaging	Het
Alox12	T	G	11: 70,143,903 (GRCm39)	D159A	probably damaging	Het
Alox12b	C	G	11: 69,054,884 (GRCm39)	P296A	possibly damaging	Het
Ankrd17	T	C	5: 90,380,168 (GRCm39)	I2507V	probably benign	Het
Apeh	T	C	9: 107,963,045 (GRCm39)	M670V	possibly damaging	Het
Aqp12	C	T	1: 92,934,627 (GRCm39)	A168V	probably benign	Het
Ceacam1	A	T	7: 25,171,299 (GRCm39)	D388E	probably damaging	Het
Clp1	A	T	2: 84,554,266 (GRCm39)	I301N	probably damaging	Het
Cntn3	A	G	6: 102,244,398 (GRCm39)	F384L	probably benign	Het
Dnpep	A	T	1: 75,291,805 (GRCm39)	M238K	possibly damaging	Het
Dync2h1	A	T	9: 6,996,641 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,623,360 (GRCm39)	N98K	probably benign	Het
Egr3	T	A	14: 70,316,349 (GRCm39)	N15K	probably damaging	Het
Fbxo25	T	A	8: 13,965,023 (GRCm39)	C25S	possibly damaging	Het
Fgd4	T	A	16: 16,240,494 (GRCm39)	D745V	possibly damaging	Het
Flnb	T	A	14: 7,908,553 (GRCm38)	D1310E	probably benign	Het
Ggnbp2	A	G	11: 84,732,448 (GRCm39)	F215S	probably damaging	Het
Gm1979	C	T	5: 26,207,032 (GRCm39)	R107Q	probably benign	Het
Gm4847	T	A	1: 166,467,677 (GRCm39)	H173L	probably damaging	Het
Gmeb1	A	T	4: 131,964,425 (GRCm39)	L146H	probably damaging	Het
Gpr88	A	G	3: 116,046,300 (GRCm39)	S4P	unknown	Het
Gucy1a1	A	G	3: 82,016,433 (GRCm39)	L185P	possibly damaging	Het
Hsd3b6	G	T	3: 98,713,984 (GRCm39)	T105N	probably damaging	Het
Iqca1	T	C	1: 89,998,335 (GRCm39)	Y546C	probably benign	Het
Irf1	T	A	11: 53,667,196 (GRCm39)	I305N	probably benign	Het
Itgb3	G	A	11: 104,556,451 (GRCm39)	W764*	probably null	Het
Klra8	G	T	6: 130,096,017 (GRCm39)	R192S	probably benign	Het
Krt79	T	A	15: 101,839,922 (GRCm39)	I358F	probably damaging	Het
Mettl4	T	C	17: 95,047,843 (GRCm39)	D266G	possibly damaging	Het
Mfsd8	G	A	3: 40,786,493 (GRCm39)	A219V	probably benign	Het
Mgam	G	A	6: 40,691,663 (GRCm39)		probably benign	Het
Nek9	A	T	12: 85,348,616 (GRCm39)	C973S	probably damaging	Het
Or2k2	G	T	4: 58,785,374 (GRCm39)	A116E	possibly damaging	Het
Or4f15	A	T	2: 111,814,049 (GRCm39)	Y123*	probably null	Het
Or8c13	T	C	9: 38,091,780 (GRCm39)	Y113C	probably damaging	Het
Ostc	T	A	3: 130,503,020 (GRCm39)	E2V	probably damaging	Het
Ostc	C	A	3: 130,503,021 (GRCm39)	E2*	probably null	Het
Pcdhb8	T	A	18: 37,490,585 (GRCm39)	C754*	probably null	Het
Polr1a	A	G	6: 71,892,053 (GRCm39)	T111A	possibly damaging	Het
Prep	C	T	10: 44,991,291 (GRCm39)	T319M	probably benign	Het
Reg3b	A	C	6: 78,349,886 (GRCm39)	D142A	possibly damaging	Het
Retsat	A	G	6: 72,583,936 (GRCm39)	D537G	probably benign	Het
Rnf2	G	A	1: 151,352,030 (GRCm39)	L109F	probably damaging	Het
Rskr	A	G	11: 78,184,373 (GRCm39)	D240G	probably damaging	Het
Runx3	G	T	4: 134,902,656 (GRCm39)	R262L	probably damaging	Het
Rwdd3	G	T	3: 120,952,871 (GRCm39)	T112K	probably benign	Het
Scfd2	T	C	5: 74,691,931 (GRCm39)	H117R	possibly damaging	Het
Scn10a	C	T	9: 119,451,958 (GRCm39)	V1321M	probably damaging	Het
Sec31a	T	C	5: 100,534,040 (GRCm39)	E119G	possibly damaging	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc18a1	T	A	8: 69,520,823 (GRCm39)	I199F	possibly damaging	Het
St18	C	T	1: 6,873,206 (GRCm39)	R314*	probably null	Het
Sucla2	T	G	14: 73,819,068 (GRCm39)		probably benign	Het
Sulf1	A	T	1: 12,878,187 (GRCm39)	H225L	probably damaging	Het
Tas2r140	A	G	6: 133,032,380 (GRCm39)	V126A	possibly damaging	Het
Tcp10b	T	C	17: 13,281,828 (GRCm39)	I66T	probably damaging	Het
Tmem45a2	T	C	16: 56,861,115 (GRCm39)	I237M	probably benign	Het
Traf3ip1	C	T	1: 91,428,733 (GRCm39)	R167*	probably null	Het
Trav17	T	G	14: 54,044,320 (GRCm39)	V30G	probably damaging	Het
Vmn1r54	A	G	6: 90,246,100 (GRCm39)	N5D	probably benign	Het
Vmn2r81	A	G	10: 79,110,441 (GRCm39)	H518R	probably benign	Het
Washc3	A	G	10: 88,051,916 (GRCm39)	T102A	probably benign	Het
Xaf1	A	G	11: 72,194,266 (GRCm39)	H49R	probably damaging	Het
Zfp1001	G	A	2: 150,165,753 (GRCm39)		probably benign	Het
Zfp276	T	C	8: 123,985,109 (GRCm39)	F356L	probably damaging	Het
Zfp512	G	T	5: 31,637,533 (GRCm39)	E541*	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
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
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
Z1176:Zfp398	UTSW	6	47,843,789 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAGATGTTGGTAGCACC -3'
(R):5'- TACAGTCTGTGCACGGGTAG -3'

Sequencing Primer
(F):5'- AGATGTTGGTAGCACCTCCCAG -3'
(R):5'- TGTGCACGGGTAGGGACG -3'

Posted On

2021-11-19