Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Zfp273'

527079

Institutional Source

Beutler Lab

Gene Symbol

Zfp273

Ensembl Gene

ENSMUSG00000030446

Gene Name

zinc finger protein 273

Synonyms

6820416H06Rik

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

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

Stock #

R6668 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67961935-67975119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 67973243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 124 (L124V)

Ref Sequence

ENSEMBL: ENSMUSP00000137903 (fasta)

Gene Model

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

AlphaFold

Q7M6W8

Predicted Effect

probably benign
Transcript: ENSMUST00000012725
AA Change: L91V

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000012725
Gene: ENSMUSG00000030446
AA Change: L91V

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: L124V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137903
Gene: ENSMUSG00000030446
AA Change: L124V

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

0.7229

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,486,868 (GRCm39)		probably benign	Het
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ift172	T	C	5: 31,412,683 (GRCm39)	N1524S	probably benign	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Plxna2	T	C	1: 194,492,396 (GRCm39)	V1751A	possibly damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Ulk4	A	T	9: 121,017,408 (GRCm39)	V690E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp608	A	G	18: 55,031,091 (GRCm39)	S950P	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	probably damaging	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
R5748:Zfp273	UTSW	13	67,973,450 (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
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'- CAGAGGTAGGCGGATTTCTG -3'
(R):5'- ACATTTGTAGGGTTTCTCTCCAGTAT -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CTCTTCGGTGAACAATAAGTCCTG -3'

Posted On

2018-07-23