Mutagenetix > Incidental Mutation

Incidental Mutation 'R5171:Zfp26'

398724

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

042751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5171 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20428449-20460162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20444907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 35 (K35R)

Ref Sequence

ENSEMBL: ENSMUSP00000124075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159569] [ENSMUST00000162438]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098970

Predicted Effect

probably benign
Transcript: ENSMUST00000159569
AA Change: K35R

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

SMART Domains

Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: K35R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161248

Predicted Effect

unknown
Transcript: ENSMUST00000162438
AA Change: K35R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180846

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (52/52)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,742,847	Q269K	probably benign	Het
Acad9	T	A	3: 36,074,398	I136N	possibly damaging	Het
Adtrp	A	G	13: 41,777,563	S183P	probably damaging	Het
Atp11b	C	T	3: 35,832,937	T690I	probably damaging	Het
Bcl2l12	G	A	7: 44,991,394		probably benign	Het
Btnl7-ps	T	A	17: 34,533,529		noncoding transcript	Het
Ccl12	T	C	11: 82,102,634	C33R	probably damaging	Het
Cdc25a	T	A	9: 109,877,161	S57R	probably benign	Het
Coro2a	T	A	4: 46,542,372		probably benign	Het
Cpne6	T	C	14: 55,512,148	V55A	possibly damaging	Het
Ddn	A	G	15: 98,806,326	S362P	possibly damaging	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Donson	A	G	16: 91,681,293	V258A	possibly damaging	Het
Gm3336	G	A	8: 70,721,875	V163I	probably benign	Het
Gm8765	A	T	13: 50,700,378	T91S	possibly damaging	Het
Gper1	C	T	5: 139,426,658	R253C	probably damaging	Het
Gpsm1	T	A	2: 26,327,464		probably benign	Het
Hip1	A	G	5: 135,440,302	S251P	probably damaging	Het
Ifi214	A	G	1: 173,526,634	S157P	possibly damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kntc1	T	C	5: 123,799,844	V1535A	probably benign	Het
Mbd3l1	A	G	9: 18,485,134	N185S	probably benign	Het
Mnx1	T	C	5: 29,474,853	Q252R	unknown	Het
Mroh3	A	T	1: 136,191,656	L463Q	possibly damaging	Het
Myom1	T	C	17: 71,099,972	V1030A	possibly damaging	Het
Olfr1134	T	G	2: 87,656,544	I126L	possibly damaging	Het
Olfr411	T	C	11: 74,346,814	T257A	probably benign	Het
Olfr988	T	C	2: 85,353,770	D52G	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Ranbp17	A	G	11: 33,217,419	Y1015H	probably benign	Het
Rasal1	C	T	5: 120,663,764	T256I	probably benign	Het
Rexo5	T	A	7: 119,823,779	I278N	probably damaging	Het
Rims2	T	A	15: 39,437,103	S77T	probably damaging	Het
Sdk2	C	T	11: 113,850,982	A804T	probably benign	Het
Slc24a2	T	A	4: 86,996,634	I589F	probably benign	Het
Slc25a38	T	A	9: 120,122,115	I217K	probably benign	Het
Slc5a7	T	C	17: 54,276,676	T529A	probably benign	Het
Spata22	T	A	11: 73,336,208	S83T	probably damaging	Het
Stac2	A	T	11: 98,043,498	C127S	possibly damaging	Het
Tep1	T	C	14: 50,824,802	H2531R	probably benign	Het
Tmem151a	G	T	19: 5,082,033	R382S	probably damaging	Het
Trim60	T	C	8: 65,000,524	T358A	probably benign	Het
Unc13c	T	A	9: 73,757,954	M1048L	probably benign	Het
Usp29	T	C	7: 6,962,075	S306P	probably damaging	Het
Zfp462	T	A	4: 55,016,986		probably null	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
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
R8814:Zfp26	UTSW	9	20438434	missense	probably benign	0.01
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'- CAAAGCCCCTGGTATTTGGC -3'
(R):5'- GGGGTTTATATCTTGAGTGAACCAAG -3'

Sequencing Primer
(F):5'- TTTGGCACTGCAATGGTCAAGAC -3'
(R):5'- CACAGTGAATGTGGGCTT -3'

Posted On

2016-07-06