Mutagenetix > Incidental Mutations

Incidental Mutation 'R4819:Zfp281'

370029

Institutional Source

Beutler Lab

Gene Symbol

Zfp281

Ensembl Gene

ENSMUSG00000041483

Gene Name

zinc finger protein 281

Synonyms

MMRRC Submission

042000-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4819 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

136624901-136630053 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136625710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 142 (H142R)

Ref Sequence

ENSEMBL: ENSMUSP00000107677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047734] [ENSMUST00000112046]

AlphaFold

Q99LI5

Predicted Effect

probably benign
Transcript: ENSMUST00000047734
AA Change: H142R

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

SMART Domains

Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: H142R

Domain	Start	End	E-Value	Type
low complexity region	4	36	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	161	171	N/A	INTRINSIC
low complexity region	180	191	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
ZnF_C2H2	258	280	3.34e-2	SMART
ZnF_C2H2	286	308	6.78e-3	SMART
ZnF_C2H2	314	336	1.43e-1	SMART
ZnF_C2H2	342	362	2.97e1	SMART
low complexity region	397	407	N/A	INTRINSIC
low complexity region	488	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112046
AA Change: H142R

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

SMART Domains

Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: H142R

Domain	Start	End	E-Value	Type
low complexity region	4	36	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
low complexity region	161	171	N/A	INTRINSIC
low complexity region	180	191	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
ZnF_C2H2	258	280	3.34e-2	SMART
ZnF_C2H2	286	308	6.78e-3	SMART
ZnF_C2H2	314	336	1.43e-1	SMART
ZnF_C2H2	342	362	2.97e1	SMART
low complexity region	397	407	N/A	INTRINSIC
low complexity region	488	501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180797

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538	V144A	probably benign	Het
Bfar	C	T	16: 13,687,467	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879		probably null	Het
Dst	A	G	1: 33,968,835	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358	D45G	probably damaging	Het
Heca	A	G	10: 17,908,072	Y478H	probably damaging	Het
Hspa9	C	T	18: 34,939,388	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,966	Y299*	probably null	Het
Ik	T	A	18: 36,753,257		probably null	Het
Khsrp	A	G	17: 57,023,360	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544	T564A	unknown	Het
Lig4	A	G	8: 9,971,885	S632P	probably benign	Het
Med1	C	T	11: 98,155,432		probably benign	Het
Mgat3	T	A	15: 80,212,349	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277		probably null	Het
Pcdh15	A	C	10: 74,324,389	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321		probably null	Het
Tmem100	A	G	11: 90,035,445	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,364,610	P520L	probably damaging	Het
Ttn	A	T	2: 76,791,749	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp462	G	T	4: 55,060,044	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417	H323L	probably damaging	Het

Other mutations in Zfp281

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Zfp281	APN	1	136627910	missense	probably damaging	1.00
IGL01408:Zfp281	APN	1	136626115	missense	probably damaging	1.00
IGL02037:Zfp281	APN	1	136627447	missense	possibly damaging	0.64
IGL03233:Zfp281	APN	1	136626829	missense	possibly damaging	0.82
PIT4486001:Zfp281	UTSW	1	136627003	missense	possibly damaging	0.48
R1514:Zfp281	UTSW	1	136626697	missense	probably benign	0.00
R1784:Zfp281	UTSW	1	136625353	small insertion	probably benign
R1785:Zfp281	UTSW	1	136625353	small insertion	probably benign
R2049:Zfp281	UTSW	1	136625353	small insertion	probably benign
R2142:Zfp281	UTSW	1	136625353	small insertion	probably benign
R4086:Zfp281	UTSW	1	136626121	missense	probably damaging	1.00
R4087:Zfp281	UTSW	1	136626121	missense	probably damaging	1.00
R4088:Zfp281	UTSW	1	136626121	missense	probably damaging	1.00
R4090:Zfp281	UTSW	1	136626121	missense	probably damaging	1.00
R5380:Zfp281	UTSW	1	136625938	missense	possibly damaging	0.93
R6033:Zfp281	UTSW	1	136626726	missense	probably benign	0.14
R6033:Zfp281	UTSW	1	136626726	missense	probably benign	0.14
R6056:Zfp281	UTSW	1	136625440	missense	possibly damaging	0.93
R6213:Zfp281	UTSW	1	136625512	missense	probably benign	0.01
R7402:Zfp281	UTSW	1	136625452	missense	probably damaging	0.99
R7503:Zfp281	UTSW	1	136626940	missense	possibly damaging	0.67
R7969:Zfp281	UTSW	1	136626034	missense	probably benign	0.06
R8343:Zfp281	UTSW	1	136627882	missense	probably damaging	1.00
R8722:Zfp281	UTSW	1	136625596	missense	probably benign	0.00
R9199:Zfp281	UTSW	1	136625905	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTTCAACCACCGGCTTC -3'
(R):5'- CTGCTCAGTAATACATCGCGG -3'

Sequencing Primer
(F):5'- GCAGTGCGTGTTATCCTCC -3'
(R):5'- CAGTAATACATCGCGGTGGTGC -3'

Posted On

2016-02-04