Mutagenetix > Incidental Mutations

Incidental Mutation 'R5576:Zfp26'

437215

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

043131-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R5576 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20428449-20460162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20437507 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 587 (V587A)

Ref Sequence

ENSEMBL: ENSMUSP00000124075 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000075263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159569
AA Change: V587A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: V587A

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

noncoding transcript
Transcript: ENSMUST00000180846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,737,704	T96I	probably benign	Het
Add2	G	T	6: 86,107,475		probably null	Het
Agbl1	C	T	7: 76,335,237	T134M	probably benign	Het
Agfg1	T	A	1: 82,870,724	S32T	probably benign	Het
Ankrd17	A	C	5: 90,243,224	S2087A	probably benign	Het
Apob	A	T	12: 7,998,662	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,996,911	V297E	probably benign	Het
BC034090	T	G	1: 155,241,468	K301N	probably benign	Het
Bhlha9	T	C	11: 76,672,769	I74T	probably damaging	Het
Btnl9	T	C	11: 49,178,885	H189R	probably benign	Het
Ccdc122	G	A	14: 77,091,877	M123I	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dnah9	T	C	11: 65,834,096		probably null	Het
Dnaja2	A	T	8: 85,539,404	L351I	possibly damaging	Het
Efcab6	C	A	15: 83,950,000	S469I	probably benign	Het
Esp15	C	A	17: 39,642,673	T17K	probably damaging	Het
Fads1	A	G	19: 10,185,874	T172A	probably benign	Het
Fbp2	A	T	13: 62,837,191	D305E	probably benign	Het
Golga4	A	G	9: 118,553,534	T541A	probably benign	Het
Herc3	T	C	6: 58,888,725	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,842,634	V514A	possibly damaging	Het
Melk	A	G	4: 44,312,255	E141G	probably null	Het
Nln	A	G	13: 104,058,830	Y245H	probably damaging	Het
Nrap	C	T	19: 56,321,982	R1563H	probably damaging	Het
Olfr854	T	A	9: 19,567,073	M101L	probably benign	Het
Olfr907	A	C	9: 38,498,908	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,430,162	I34N	probably damaging	Het
Pex11g	A	G	8: 3,465,875	S53P	probably damaging	Het
Pole	A	T	5: 110,312,065	K1112*	probably null	Het
Ppfia4	T	G	1: 134,323,050	D184A	possibly damaging	Het
Rpp30	T	A	19: 36,101,851	D216E	probably benign	Het
Sbno2	C	T	10: 80,067,337	A398T	probably damaging	Het
Sbp	T	A	17: 23,945,578	S94T	probably benign	Het
Skp1a	T	G	11: 52,242,588	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,597,502	W220R	probably damaging	Het
Slfn9	A	T	11: 82,981,432	M826K	probably benign	Het
Snx2	A	G	18: 53,210,750	K322E	probably benign	Het
Spata32	T	A	11: 103,209,827	N38I	possibly damaging	Het
Sycp1	T	C	3: 102,818,902	R969G	probably damaging	Het
Tcrg-C2	T	C	13: 19,305,131	I144V	probably benign	Het
Trpc1	A	G	9: 95,721,324	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,224,574		probably null	Het
Xrcc6	T	A	15: 82,022,492	D79E	probably damaging	Het
Zan	A	T	5: 137,428,482	C2467*	probably null	Het
Zfp553	C	T	7: 127,236,703	R477C	possibly 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
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
X0065:Zfp26	UTSW	9	20436891	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTACACTGAAAGGGTCTCTCAG -3'
(R):5'- AAAGCCTTCACCAGCTTCGC -3'

Sequencing Primer
(F):5'- CACTGAAAGGGTCTCTCAGAACTATG -3'
(R):5'- CACCAGCTTCGCTCAGC -3'

Posted On

2016-10-26