Mutagenetix > Incidental Mutation

Incidental Mutation 'R7969:Zfp281'

650490

Institutional Source

Beutler Lab

Gene Symbol

Zfp281

Ensembl Gene

ENSMUSG00000041483

Gene Name

zinc finger protein 281

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136624901-136630053 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136626034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 250 (V250D)

Ref Sequence

ENSEMBL: ENSMUSP00000039003 (fasta)

Gene Model

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

AlphaFold

Q99LI5

Predicted Effect

probably benign
Transcript: ENSMUST00000047734
AA Change: V250D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: V250D

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: V250D

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: V250D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ahcyl2	T	A	6: 29,870,664	I193N	probably damaging	Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Cacna1s	T	G	1: 136,076,732	F337C	probably damaging	Het
Cep85l	T	C	10: 53,298,184	I488V	probably damaging	Het
Cmas	T	A	6: 142,775,166	D375E	probably damaging	Het
Cnga4	T	C	7: 105,406,046	F279S	probably damaging	Het
Cyp4f37	T	C	17: 32,625,207	V95A	probably benign	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Dlg2	T	C	7: 92,417,258	F235S	probably benign	Het
Dmxl2	T	C	9: 54,446,881	D427G	possibly damaging	Het
Efl1	T	C	7: 82,692,970	Y529H	probably benign	Het
Epx	C	T	11: 87,872,721	M224I	probably benign	Het
Fetub	A	G	16: 22,929,699	R101G	possibly damaging	Het
Fubp1	T	A	3: 152,222,246		probably null	Het
Impdh2	C	T	9: 108,562,306	R153*	probably null	Het
Kcnj12	C	T	11: 61,069,604	Q243*	probably null	Het
Lrrn1	T	A	6: 107,567,850	V203E	probably damaging	Het
Meikin	T	C	11: 54,409,710	S338P	possibly damaging	Het
Myl10	A	T	5: 136,700,853		probably null	Het
Nt5c3b	T	C	11: 100,434,741	K120E	possibly damaging	Het
Olfr118	T	A	17: 37,672,656	L211H	probably damaging	Het
Olfr790	T	C	10: 129,501,847	L313S	probably benign	Het
Olfr802	G	A	10: 129,681,830	T303I	probably benign	Het
Olfr93	T	A	17: 37,151,186	N262I	possibly damaging	Het
Pdzd7	A	G	19: 45,036,225	S452P	probably benign	Het
Prune2	A	G	19: 17,201,670	I2982V	probably damaging	Het
Ptpdc1	G	A	13: 48,587,101	R285C	probably damaging	Het
Raf1	T	C	6: 115,620,288	D486G	probably damaging	Het
Rbm27	A	T	18: 42,275,480		probably benign	Het
Slit2	A	G	5: 48,304,036	Y1475C	possibly damaging	Het
Snx14	G	A	9: 88,413,560	T184M	probably damaging	Het
Tgm5	G	T	2: 121,075,169	N168K	probably damaging	Het
Ugt2b38	A	G	5: 87,424,032	V47A	probably benign	Het
Ush2a	A	G	1: 188,826,371	H3599R	probably benign	Het
Veph1	T	C	3: 66,215,475	E211G	possibly damaging	Het
Wapl	T	A	14: 34,730,647	H832Q	probably damaging	Het
Zfp36l2	A	G	17: 84,185,824	S462P	unknown	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
R4819:Zfp281	UTSW	1	136625710	missense	probably benign
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
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
R9461:Zfp281	UTSW	1	136626762	missense	probably benign	0.28
R9487:Zfp281	UTSW	1	136627405	missense	probably damaging	0.96
R9532:Zfp281	UTSW	1	136627156	missense	probably benign
R9541:Zfp281	UTSW	1	136627565	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACCACCGCGATGTATTAC -3'
(R):5'- TTCATGCTGCACTGATCGC -3'

Sequencing Primer
(F):5'- ACCGCGATGTATTACTGAGC -3'
(R):5'- CCAAAGGGTTTCTCTCTGCTGTG -3'

Posted On

2020-09-15