Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:Zfp300'

328256

Institutional Source

Beutler Lab

Gene Symbol

Zfp300

Ensembl Gene

ENSMUSG00000031079

Gene Name

zinc finger protein 300

Synonyms

D930016N04Rik

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4427 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

20945413-20955766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20949405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 120 (V120I)

Ref Sequence

ENSEMBL: ENSMUSP00000046514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040667]

AlphaFold

A2AE21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040667
AA Change: V120I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046514
Gene: ENSMUSG00000031079
AA Change: V120I

Domain	Start	End	E-Value	Type
KRAB	7	66	5.73e-33	SMART
ZnF_C2H2	215	237	9.46e0	SMART
ZnF_C2H2	241	265	1.09e2	SMART
ZnF_C2H2	271	293	2.24e-3	SMART
ZnF_C2H2	299	321	8.34e-3	SMART
ZnF_C2H2	327	349	2.79e-4	SMART
ZnF_C2H2	355	377	3.16e-3	SMART
ZnF_C2H2	383	405	4.87e-4	SMART
ZnF_C2H2	411	433	3.44e-4	SMART
ZnF_C2H2	439	461	1.13e-4	SMART
ZnF_C2H2	467	489	1.95e-3	SMART
ZnF_C2H2	497	517	4.23e0	SMART
ZnF_C2H2	526	548	1.47e-3	SMART
ZnF_C2H2	554	576	2.79e-4	SMART
ZnF_C2H2	582	604	2.09e-3	SMART
low complexity region	628	645	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154299

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,278,678 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Ccdc88b	C	T	19: 6,827,940 (GRCm39)	E878K	probably damaging	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Evi2	T	A	11: 79,407,182 (GRCm39)	Q131L	possibly damaging	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Frem2	A	G	3: 53,446,583 (GRCm39)		probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	Het

Other mutations in Zfp300

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Zfp300	APN	X	20,948,531 (GRCm39)	missense	probably damaging	0.97
IGL00715:Zfp300	APN	X	20,950,493 (GRCm39)	missense	probably damaging	0.99
R0785:Zfp300	UTSW	X	20,949,164 (GRCm39)	missense	possibly damaging	0.92
R2144:Zfp300	UTSW	X	20,948,190 (GRCm39)	missense	possibly damaging	0.93
R2145:Zfp300	UTSW	X	20,948,190 (GRCm39)	missense	possibly damaging	0.93
Z1176:Zfp300	UTSW	X	20,948,164 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGCTCCTGGGATTTCATTCTG -3'
(R):5'- AAGTGAACACCATCGCCTG -3'

Sequencing Primer
(F):5'- ACTTATCTCATGTCTGCCAGG -3'
(R):5'- GCTTCTGACTGGCTTTATTTACAGAG -3'

Posted On

2015-07-07