Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Zfp26'

672615

Institutional Source

Beutler Lab

Gene Symbol

Zfp26

Ensembl Gene

ENSMUSG00000063108

Gene Name

zinc finger protein 26

Synonyms

Zfp70, KRAB15, Zfp81-rs1, Zfp-26, 5033428C05Rik, mkr-3

MMRRC Submission

068649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20428449-20460162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20438434 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 278 (V278D)

Ref Sequence

ENSEMBL: ENSMUSP00000124075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159569]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159569
AA Change: V278D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: V278D

Domain	Start	End	E-Value	Type
Blast:KRAB	40	93	3e-6	BLAST
KRAB	107	167	4.28e-32	SMART
ZnF_C2H2	289	311	3.34e-2	SMART
ZnF_C2H2	344	366	3.63e-3	SMART
ZnF_C2H2	372	394	4.54e-4	SMART
ZnF_C2H2	400	422	2.65e-5	SMART
ZnF_C2H2	428	450	1.12e-3	SMART
ZnF_C2H2	456	478	9.08e-4	SMART
ZnF_C2H2	484	506	7.9e-4	SMART
ZnF_C2H2	512	534	2.43e-4	SMART
ZnF_C2H2	540	562	1.36e-2	SMART
ZnF_C2H2	568	590	3.44e-4	SMART
ZnF_C2H2	596	618	6.52e-5	SMART
ZnF_C2H2	624	646	2.32e-1	SMART
ZnF_C2H2	652	674	9.22e-5	SMART
ZnF_C2H2	680	702	1.22e-4	SMART
ZnF_C2H2	708	730	4.87e-4	SMART
ZnF_C2H2	736	758	4.54e-4	SMART
ZnF_C2H2	764	786	3.44e-4	SMART
ZnF_C2H2	792	814	5.21e-4	SMART
ZnF_C2H2	820	842	3.44e-4	SMART
ZnF_C2H2	848	870	5.14e-3	SMART
ZnF_C2H2	876	898	2.79e-4	SMART
ZnF_C2H2	904	926	2.12e-4	SMART
ZnF_C2H2	932	954	9.56e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het

Other mutations in Zfp26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Zfp26	APN	9	20439548	missense	possibly damaging	0.68
IGL02273:Zfp26	APN	9	20441448	missense	probably damaging	0.96
FR4449:Zfp26	UTSW	9	20438546	missense	probably benign	0.01
FR4548:Zfp26	UTSW	9	20438546	missense	probably benign	0.01
FR4737:Zfp26	UTSW	9	20438546	missense	probably benign	0.01
FR4976:Zfp26	UTSW	9	20438546	missense	probably benign	0.01
LCD18:Zfp26	UTSW	9	20438546	missense	probably benign	0.01
R0157:Zfp26	UTSW	9	20437870	missense	probably benign	0.37
R1591:Zfp26	UTSW	9	20437625	missense	probably benign	0.01
R1818:Zfp26	UTSW	9	20442191	missense	probably benign	0.00
R1936:Zfp26	UTSW	9	20437553	missense	probably benign	0.04
R2081:Zfp26	UTSW	9	20436617	missense	probably benign	0.17
R2107:Zfp26	UTSW	9	20442237	missense	probably benign
R2240:Zfp26	UTSW	9	20437267	missense	probably damaging	1.00
R3429:Zfp26	UTSW	9	20441460	unclassified	probably benign
R3785:Zfp26	UTSW	9	20437802	missense	probably damaging	1.00
R4050:Zfp26	UTSW	9	20442229	missense	probably benign
R4198:Zfp26	UTSW	9	20436716	missense	probably benign	0.17
R4200:Zfp26	UTSW	9	20436716	missense	probably benign	0.17
R4360:Zfp26	UTSW	9	20438573	missense	probably benign	0.35
R4505:Zfp26	UTSW	9	20442265	missense	probably benign	0.29
R5171:Zfp26	UTSW	9	20444907	missense	probably benign
R5412:Zfp26	UTSW	9	20438239	missense	possibly damaging	0.75
R5493:Zfp26	UTSW	9	20444319	missense	possibly damaging	0.66
R5576:Zfp26	UTSW	9	20437507	missense	possibly damaging	0.86
R5652:Zfp26	UTSW	9	20437841	nonsense	probably null
R6089:Zfp26	UTSW	9	20437693	missense	probably damaging	0.99
R6332:Zfp26	UTSW	9	20437286	missense	probably damaging	1.00
R7599:Zfp26	UTSW	9	20437833	missense	probably damaging	1.00
R7713:Zfp26	UTSW	9	20441334	missense	probably benign	0.08
R8460:Zfp26	UTSW	9	20437077	missense	probably damaging	1.00
R8679:Zfp26	UTSW	9	20444905	missense	possibly damaging	0.46
R9130:Zfp26	UTSW	9	20437427	missense	probably damaging	1.00
R9351:Zfp26	UTSW	9	20438151	nonsense	probably null
R9432:Zfp26	UTSW	9	20436534	missense	probably damaging	1.00
R9587:Zfp26	UTSW	9	20436917	missense	probably damaging	1.00
R9719:Zfp26	UTSW	9	20436565	missense	possibly damaging	0.95
X0065:Zfp26	UTSW	9	20436891	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCACCATGGCTTATAGGATGAG -3'
(R):5'- CCCTTTATCAATAGGGAAGAGAGCAC -3'

Sequencing Primer
(F):5'- GATGAGTAGAAGCTTGTCCACACTC -3'
(R):5'- AACCTGGTGACCCTGTTCAAG -3'

Posted On

2021-04-30