Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Zfp26'

587908

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

Accession Numbers

Essential gene?

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

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20428449-20460162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20437833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 478 (H478Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124075 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000159569
AA Change: H478Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124075
Gene: ENSMUSG00000063108
AA Change: H478Q

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Efcab6	T	A	15: 83,870,988	R1376W	probably damaging	Het
Esrra	G	T	19: 6,913,846	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mecom	T	C	3: 29,956,385	D648G	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Rabgap1	TGGGG	TGGG	2: 37,502,896		probably null	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Stat2	T	A	10: 128,277,197	N119K	possibly damaging	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	probably benign	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
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'- AAGGGCTTCTCACCAGTGTG -3'
(R):5'- CATGGTGGGCATGTGATTCC -3'

Sequencing Primer
(F):5'- TCACCAGTGTGAGTTTTTATATGTTC -3'
(R):5'- AGCGCTCAAGCTTAATTGTGC -3'

Posted On

2019-10-24