Mutagenetix > Incidental Mutation

Incidental Mutation 'R5748:Zfp273'

445889

Institutional Source

Beutler Lab

Gene Symbol

Zfp273

Ensembl Gene

ENSMUSG00000030446

Gene Name

zinc finger protein 273

Synonyms

6820416H06Rik

MMRRC Submission

043355-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5748 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67961935-67975119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67973450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 160 (Y160H)

Ref Sequence

ENSEMBL: ENSMUSP00000012725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012725] [ENSMUST00000181391]

AlphaFold

Q7M6W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000012725
AA Change: Y160H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012725
Gene: ENSMUSG00000030446
AA Change: Y160H

Domain	Start	End	E-Value	Type
KRAB	1	32	1.97e-1	SMART
ZnF_C2H2	48	70	1.95e-3	SMART
ZnF_C2H2	76	98	4.94e-5	SMART
ZnF_C2H2	104	126	6.32e-3	SMART
ZnF_C2H2	132	154	3.39e-3	SMART
ZnF_C2H2	160	182	2.99e-4	SMART
ZnF_C2H2	188	210	4.24e-4	SMART
ZnF_C2H2	216	238	1.45e-2	SMART
ZnF_C2H2	244	266	1.1e-2	SMART
ZnF_C2H2	272	294	2.91e-2	SMART
ZnF_C2H2	300	322	6.78e-3	SMART
ZnF_C2H2	328	350	2.71e-2	SMART
ZnF_C2H2	356	378	4.17e-3	SMART
ZnF_C2H2	384	406	1.38e-3	SMART
ZnF_C2H2	412	434	1.98e-4	SMART
ZnF_C2H2	440	462	1.2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000181391
AA Change: Y193H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137903
Gene: ENSMUSG00000030446
AA Change: Y193H

Domain	Start	End	E-Value	Type
KRAB	5	65	9.25e-28	SMART
ZnF_C2H2	81	103	1.95e-3	SMART
ZnF_C2H2	109	131	4.94e-5	SMART
ZnF_C2H2	137	159	6.32e-3	SMART
ZnF_C2H2	165	187	3.39e-3	SMART
ZnF_C2H2	193	215	2.99e-4	SMART
ZnF_C2H2	221	243	4.24e-4	SMART
ZnF_C2H2	249	271	1.45e-2	SMART
ZnF_C2H2	277	299	1.1e-2	SMART
ZnF_C2H2	305	327	2.91e-2	SMART
ZnF_C2H2	333	355	6.78e-3	SMART
ZnF_C2H2	361	383	2.71e-2	SMART
ZnF_C2H2	389	411	4.17e-3	SMART
ZnF_C2H2	417	439	1.38e-3	SMART
ZnF_C2H2	445	467	1.98e-4	SMART
ZnF_C2H2	473	495	1.2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181912

Meta Mutation Damage Score

0.5271

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,739,447 (GRCm39)	Q285R	probably damaging	Het
Acy1	T	A	9: 106,313,926 (GRCm39)	N78I	probably damaging	Het
Anln	T	C	9: 22,249,230 (GRCm39)	K166E	probably damaging	Het
C1qtnf4	A	G	2: 90,719,877 (GRCm39)	D50G	probably damaging	Het
Cntnap2	A	G	6: 45,692,818 (GRCm39)	T100A	probably damaging	Het
Cxcr6	C	T	9: 123,639,406 (GRCm39)	R143C	probably damaging	Het
Dhx16	T	C	17: 36,194,206 (GRCm39)	L439P	probably damaging	Het
Dlk1	T	C	12: 109,425,898 (GRCm39)	V257A	probably benign	Het
Ebpl	A	T	14: 61,597,793 (GRCm39)	L16Q	probably null	Het
Eml5	T	A	12: 98,791,814 (GRCm39)	Y1234F	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,200,702 (GRCm39)	D793G	probably benign	Het
Gtse1	T	C	15: 85,751,778 (GRCm39)	Y324H	probably benign	Het
Hcn1	A	T	13: 118,112,591 (GRCm39)	S852C	probably damaging	Het
Invs	A	G	4: 48,307,823 (GRCm39)	T83A	probably damaging	Het
Iqgap3	T	C	3: 88,016,677 (GRCm39)	L155P	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc14b	T	A	13: 74,511,759 (GRCm39)	D107V	probably damaging	Het
Mcm9	A	T	10: 53,501,825 (GRCm39)	H253Q	probably damaging	Het
Mcmdc2	A	G	1: 9,982,032 (GRCm39)	Y30C	probably damaging	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Med13l	G	A	5: 118,731,510 (GRCm39)	R62H	probably damaging	Het
Mrgpra2b	A	G	7: 47,152,280 (GRCm39)		probably benign	Het
Nacad	T	A	11: 6,548,370 (GRCm39)	K1426*	probably null	Het
Ndufb6	A	G	4: 40,279,234 (GRCm39)	L35S	probably damaging	Het
Niban2	A	T	2: 32,809,581 (GRCm39)	K260M	probably damaging	Het
Nkapl	A	G	13: 21,651,779 (GRCm39)	I278T	probably benign	Het
Nrbp2	T	C	15: 75,961,332 (GRCm39)	E263G	probably damaging	Het
Nup85	T	A	11: 115,471,338 (GRCm39)	L110Q	probably damaging	Het
Or14c40	A	G	7: 86,313,293 (GRCm39)	N141S	possibly damaging	Het
Or1e35	A	G	11: 73,797,721 (GRCm39)	I199T	probably damaging	Het
Or2t6	T	C	14: 14,175,314 (GRCm38)	Y256C	probably damaging	Het
Or4a78	A	T	2: 89,498,146 (GRCm39)	M28K	possibly damaging	Het
Or5b12	T	A	19: 12,897,379 (GRCm39)	Q98L	probably damaging	Het
Or6b2b	T	A	1: 92,418,815 (GRCm39)	I221F	probably damaging	Het
Polr2m	C	T	9: 71,390,918 (GRCm39)	D95N	probably benign	Het
Popdc2	A	T	16: 38,194,665 (GRCm39)	D362V	probably damaging	Het
Pot1a	A	T	6: 25,758,855 (GRCm39)	I308N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rundc3a	G	A	11: 102,290,225 (GRCm39)	E189K	possibly damaging	Het
Scaf1	A	C	7: 44,662,230 (GRCm39)		probably null	Het
Scaper	T	C	9: 55,766,360 (GRCm39)		probably null	Het
Sh3glb1	C	T	3: 144,418,410 (GRCm39)	C51Y	probably damaging	Het
Slc10a5	T	C	3: 10,400,391 (GRCm39)	T90A	probably benign	Het
Slc17a3	T	A	13: 24,040,449 (GRCm39)	S336T	probably damaging	Het
Slc41a2	C	A	10: 83,133,023 (GRCm39)	C341F	probably benign	Het
Spata31	A	G	13: 65,068,127 (GRCm39)	*67W	probably null	Het
Stap2	C	T	17: 56,307,475 (GRCm39)		probably null	Het
Stt3a	A	T	9: 36,663,696 (GRCm39)	M182K	probably benign	Het
Tcfl5	G	A	2: 180,284,050 (GRCm39)		silent	Het
Tmx3	T	C	18: 90,555,225 (GRCm39)	V314A	probably benign	Het
Upf1	A	G	8: 70,791,167 (GRCm39)	L525P	probably damaging	Het
Wdr6	T	C	9: 108,452,981 (GRCm39)	I301V	possibly damaging	Het
Ylpm1	T	A	12: 85,107,025 (GRCm39)		probably null	Het

Other mutations in Zfp273

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03115:Zfp273	APN	13	67,973,769 (GRCm39)	missense	probably damaging	1.00
R1969:Zfp273	UTSW	13	67,973,282 (GRCm39)	missense	probably damaging	1.00
R2679:Zfp273	UTSW	13	67,973,895 (GRCm39)	missense	probably benign	0.39
R3736:Zfp273	UTSW	13	67,973,626 (GRCm39)	nonsense	probably null
R4832:Zfp273	UTSW	13	67,973,484 (GRCm39)	missense	probably benign	0.01
R4896:Zfp273	UTSW	13	67,973,673 (GRCm39)	missense	probably damaging	1.00
R5004:Zfp273	UTSW	13	67,973,673 (GRCm39)	missense	probably damaging	1.00
R5223:Zfp273	UTSW	13	67,974,298 (GRCm39)	missense	probably damaging	1.00
R5948:Zfp273	UTSW	13	67,973,918 (GRCm39)	missense	probably benign	0.43
R6102:Zfp273	UTSW	13	67,970,466 (GRCm39)	missense	probably damaging	1.00
R6668:Zfp273	UTSW	13	67,973,243 (GRCm39)	missense	probably damaging	0.99
R7192:Zfp273	UTSW	13	67,973,183 (GRCm39)	missense	possibly damaging	0.82
R7478:Zfp273	UTSW	13	67,973,251 (GRCm39)	missense	probably benign	0.30
R7792:Zfp273	UTSW	13	67,974,135 (GRCm39)	missense	possibly damaging	0.71
R7874:Zfp273	UTSW	13	67,973,558 (GRCm39)	missense	probably benign	0.00
R8261:Zfp273	UTSW	13	67,974,070 (GRCm39)	missense	probably benign	0.12
R8424:Zfp273	UTSW	13	67,970,471 (GRCm39)	missense	probably benign	0.17
R8716:Zfp273	UTSW	13	67,974,053 (GRCm39)	missense	probably damaging	1.00
R8843:Zfp273	UTSW	13	67,970,387 (GRCm39)	missense	possibly damaging	0.80
R9010:Zfp273	UTSW	13	67,974,177 (GRCm39)	missense	probably damaging	1.00
R9131:Zfp273	UTSW	13	67,973,685 (GRCm39)	missense	probably damaging	1.00
X0028:Zfp273	UTSW	13	67,971,261 (GRCm39)	missense	probably benign	0.20
Z1088:Zfp273	UTSW	13	67,973,513 (GRCm39)	missense	possibly damaging	0.91
Z1176:Zfp273	UTSW	13	67,971,265 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGGAGAGAAACCCTACAAATGT -3'
(R):5'- TTTCATGCCAGTATGGATTCGAC -3'

Sequencing Primer
(F):5'- CCCTACAAATGTGAAGTGTGTGGC -3'
(R):5'- CCAGTATGGATTCGACGATGC -3'

Posted On

2016-11-21