Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Zfp235'

35297

Institutional Source

Beutler Lab

Gene Symbol

Zfp235

Ensembl Gene

ENSMUSG00000047603

Gene Name

zinc finger protein 235

Synonyms

0610030O19Rik

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0271 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

23833594-23842666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23836556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 34 (H34L)

Ref Sequence

ENSEMBL: ENSMUSP00000145993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056549] [ENSMUST00000205680]

AlphaFold

Q499D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056549
AA Change: H34L

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050803
Gene: ENSMUSG00000047603
AA Change: H34L

Domain	Start	End	E-Value	Type
KRAB	8	71	1.09e-15	SMART
ZnF_C2H2	283	305	1.79e-2	SMART
ZnF_C2H2	311	333	3.16e-3	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	6.99e-5	SMART
ZnF_C2H2	395	417	1.33e-1	SMART
ZnF_C2H2	423	445	3.16e-3	SMART
ZnF_C2H2	451	473	2.84e-5	SMART
ZnF_C2H2	479	501	6.32e-3	SMART
ZnF_C2H2	507	529	3.44e-4	SMART
ZnF_C2H2	535	557	2.12e-4	SMART
ZnF_C2H2	563	585	1.38e-3	SMART
ZnF_C2H2	591	613	2.27e-4	SMART
ZnF_C2H2	619	641	5.99e-4	SMART
ZnF_C2H2	647	669	5.9e-3	SMART
ZnF_C2H2	675	697	4.87e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205680
AA Change: H34L

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206809

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in Zfp235

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Zfp235	APN	7	23,836,505 (GRCm39)	missense	probably damaging	1.00
IGL02326:Zfp235	APN	7	23,834,727 (GRCm39)	start codon destroyed	probably null	0.98
R0107:Zfp235	UTSW	7	23,836,541 (GRCm39)	missense	probably damaging	1.00
R0513:Zfp235	UTSW	7	23,841,644 (GRCm39)	missense	probably damaging	1.00
R1004:Zfp235	UTSW	7	23,840,169 (GRCm39)	missense	probably damaging	1.00
R1928:Zfp235	UTSW	7	23,840,563 (GRCm39)	nonsense	probably null
R1958:Zfp235	UTSW	7	23,839,771 (GRCm39)	missense	probably damaging	0.98
R2167:Zfp235	UTSW	7	23,840,387 (GRCm39)	missense	possibly damaging	0.80
R2511:Zfp235	UTSW	7	23,841,549 (GRCm39)	missense	probably damaging	1.00
R3013:Zfp235	UTSW	7	23,840,157 (GRCm39)	missense	probably damaging	0.98
R3806:Zfp235	UTSW	7	23,840,046 (GRCm39)	missense	probably benign	0.01
R4613:Zfp235	UTSW	7	23,841,101 (GRCm39)	missense	probably damaging	1.00
R4876:Zfp235	UTSW	7	23,840,384 (GRCm39)	missense	probably benign	0.01
R4977:Zfp235	UTSW	7	23,841,609 (GRCm39)	missense	possibly damaging	0.94
R5085:Zfp235	UTSW	7	23,836,546 (GRCm39)	missense	probably damaging	0.96
R5664:Zfp235	UTSW	7	23,841,576 (GRCm39)	missense	probably damaging	1.00
R6440:Zfp235	UTSW	7	23,840,040 (GRCm39)	missense	probably damaging	0.96
R6650:Zfp235	UTSW	7	23,836,463 (GRCm39)	splice site	probably null
R7694:Zfp235	UTSW	7	23,841,525 (GRCm39)	missense	probably benign	0.37
R8031:Zfp235	UTSW	7	23,841,114 (GRCm39)	missense	probably benign	0.19
R8188:Zfp235	UTSW	7	23,841,296 (GRCm39)	missense	probably damaging	1.00
R8744:Zfp235	UTSW	7	23,839,924 (GRCm39)	missense	possibly damaging	0.56
R9115:Zfp235	UTSW	7	23,841,453 (GRCm39)	missense	probably damaging	1.00
R9244:Zfp235	UTSW	7	23,839,919 (GRCm39)	missense	probably benign	0.00
R9401:Zfp235	UTSW	7	23,841,551 (GRCm39)	missense	probably damaging	1.00
R9404:Zfp235	UTSW	7	23,839,862 (GRCm39)	missense	possibly damaging	0.92
R9523:Zfp235	UTSW	7	23,840,381 (GRCm39)	missense	probably benign	0.00
R9563:Zfp235	UTSW	7	23,841,669 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGCACCAAGTTCCTTGTACCGT -3'
(R):5'- ACACTCTCACATTCACAACGAAATGCTT -3'

Sequencing Primer
(F):5'- cctaataaacccttttcttcccaac -3'
(R):5'- agagagatggttcagtgatacag -3'

Posted On

2013-05-09