Mutagenetix > Incidental Mutation

Incidental Mutation 'R6539:Zfp94'

520590

Institutional Source

Beutler Lab

Gene Symbol

Zfp94

Ensembl Gene

ENSMUSG00000074282

Gene Name

zinc finger protein 94

Synonyms

MMRRC Submission

044665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24001129-24016091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24002716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 236 (T236M)

Ref Sequence

ENSEMBL: ENSMUSP00000032673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032673] [ENSMUST00000077780] [ENSMUST00000108436] [ENSMUST00000145131]

AlphaFold

E9Q6Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000032673
AA Change: T236M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032673
Gene: ENSMUSG00000074282
AA Change: T236M

Domain	Start	End	E-Value	Type
KRAB	2	59	3.06e-19	SMART
ZnF_C2H2	157	179	5.06e-2	SMART
ZnF_C2H2	185	207	8.47e-4	SMART
ZnF_C2H2	213	235	4.72e-2	SMART
ZnF_C2H2	241	263	1.28e-3	SMART
ZnF_C2H2	269	291	5.21e-4	SMART
ZnF_C2H2	297	319	9.08e-4	SMART
ZnF_C2H2	325	347	2.09e-3	SMART
ZnF_C2H2	353	375	8.94e-3	SMART
ZnF_C2H2	381	403	2.4e-3	SMART
ZnF_C2H2	409	431	8.6e-5	SMART
ZnF_C2H2	437	459	7.9e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077780

SMART Domains

Protein: ENSMUSP00000076954
Gene: ENSMUSG00000050605

Domain	Start	End	E-Value	Type
KRAB	4	63	2.28e-27	SMART
ZnF_C2H2	311	333	1.4e-4	SMART
ZnF_C2H2	339	361	5.5e-3	SMART
ZnF_C2H2	367	389	2.99e-4	SMART
ZnF_C2H2	395	417	1.18e-2	SMART
ZnF_C2H2	423	445	2.4e-3	SMART
ZnF_C2H2	451	473	2.95e-3	SMART
ZnF_C2H2	479	501	9.88e-5	SMART
ZnF_C2H2	507	529	1.5e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108436
AA Change: T242M

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104075
Gene: ENSMUSG00000074282
AA Change: T242M

Domain	Start	End	E-Value	Type
KRAB	8	65	3.06e-19	SMART
ZnF_C2H2	163	185	5.06e-2	SMART
ZnF_C2H2	191	213	8.47e-4	SMART
ZnF_C2H2	219	241	4.72e-2	SMART
ZnF_C2H2	247	269	1.28e-3	SMART
ZnF_C2H2	275	297	5.21e-4	SMART
ZnF_C2H2	303	325	9.08e-4	SMART
ZnF_C2H2	331	353	2.09e-3	SMART
ZnF_C2H2	359	381	8.94e-3	SMART
ZnF_C2H2	387	409	2.4e-3	SMART
ZnF_C2H2	415	437	8.6e-5	SMART
ZnF_C2H2	443	465	7.9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139811

Predicted Effect

probably benign
Transcript: ENSMUST00000145131

SMART Domains

Protein: ENSMUSP00000117077
Gene: ENSMUSG00000050605

Domain	Start	End	E-Value	Type
KRAB	4	64	4.63e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206535

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,272,616 (GRCm39)	A513V	possibly damaging	Het
Ano8	T	C	8: 71,937,127 (GRCm39)	D147G	probably damaging	Het
Apba1	A	G	19: 23,913,924 (GRCm39)	D649G	probably damaging	Het
Atp6v0d1	T	C	8: 106,251,606 (GRCm39)	I329V	probably benign	Het
Card6	T	A	15: 5,134,873 (GRCm39)	N110I	probably damaging	Het
Cfap410	A	G	10: 77,820,322 (GRCm39)	T231A	probably benign	Het
Chn2	T	A	6: 54,150,446 (GRCm39)		probably null	Het
Cyp46a1	G	A	12: 108,319,416 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,776,739 (GRCm39)	H782L	probably damaging	Het
Defa26	A	G	8: 22,108,262 (GRCm39)	I22V	possibly damaging	Het
Dlk1	A	G	12: 109,426,245 (GRCm39)	M278V	probably benign	Het
Dync2h1	T	C	9: 7,159,478 (GRCm39)		probably null	Het
Ehmt1	T	A	2: 24,694,779 (GRCm39)	H1056L	probably damaging	Het
Ephb3	G	A	16: 21,040,218 (GRCm39)	D527N	probably benign	Het
Flt1	T	C	5: 147,515,186 (GRCm39)	K1079E	probably benign	Het
Fndc3b	C	T	3: 27,592,206 (GRCm39)	G231R	probably benign	Het
Gm4924	T	A	10: 82,214,358 (GRCm39)		probably benign	Het
Ifrd1	G	A	12: 40,253,434 (GRCm39)	A426V	probably damaging	Het
Ift140	T	C	17: 25,313,643 (GRCm39)	L1358P	possibly damaging	Het
Igkv5-37	A	T	6: 69,940,800 (GRCm39)	S16T	probably benign	Het
Map3k9	A	G	12: 81,778,966 (GRCm39)	L449P	probably damaging	Het
Mdm1	T	C	10: 117,986,863 (GRCm39)		probably null	Het
Mmrn1	A	T	6: 60,964,168 (GRCm39)	T1056S	probably benign	Het
Mroh2b	C	T	15: 4,935,056 (GRCm39)	H164Y	probably damaging	Het
Muc16	T	C	9: 18,548,621 (GRCm39)	T5891A	probably benign	Het
Nagpa	T	C	16: 5,021,565 (GRCm39)	E62G	possibly damaging	Het
Nek10	T	A	14: 14,860,789 (GRCm38)	V475D	possibly damaging	Het
Or4c101	T	C	2: 88,389,864 (GRCm39)	F6S	probably damaging	Het
Or5ac15	A	C	16: 58,940,114 (GRCm39)	S106R	probably damaging	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Parvg	T	A	15: 84,225,541 (GRCm39)	D349E	probably damaging	Het
Pitpna	A	G	11: 75,489,127 (GRCm39)	Y58C	probably damaging	Het
Ppp4r3b	T	A	11: 29,168,503 (GRCm39)	D73E	probably benign	Het
Preb	A	G	5: 31,113,420 (GRCm39)	V338A	probably benign	Het
Sec23a	T	C	12: 59,031,998 (GRCm39)	T411A	probably benign	Het
Smc6	A	G	12: 11,347,011 (GRCm39)		probably null	Het
Stxbp5l	A	G	16: 36,950,177 (GRCm39)	M1056T	probably damaging	Het
Tbcd	T	A	11: 121,447,813 (GRCm39)		probably null	Het
Tent5a	T	C	9: 85,208,614 (GRCm39)	I70V	possibly damaging	Het
Tpx2	G	T	2: 152,718,518 (GRCm39)	E174*	probably null	Het
Trpc4ap	G	T	2: 155,478,178 (GRCm39)	P663T	probably benign	Het
Unc5cl	G	A	17: 48,772,045 (GRCm39)	G441D	probably damaging	Het
Xrcc2	G	T	5: 25,897,530 (GRCm39)	R140S	probably benign	Het
Zfc3h1	G	A	10: 115,247,907 (GRCm39)	E1037K	probably benign	Het
Zfhx4	A	T	3: 5,309,168 (GRCm39)	Q798L	probably damaging	Het

Other mutations in Zfp94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Zfp94	APN	7	24,010,906 (GRCm39)	utr 5 prime	probably benign
IGL02645:Zfp94	APN	7	24,003,179 (GRCm39)	missense	probably benign
R0684:Zfp94	UTSW	7	24,002,495 (GRCm39)	missense	probably damaging	1.00
R1177:Zfp94	UTSW	7	24,002,953 (GRCm39)	missense	probably damaging	1.00
R1644:Zfp94	UTSW	7	24,010,927 (GRCm39)	splice site	probably benign
R1675:Zfp94	UTSW	7	24,002,259 (GRCm39)	missense	probably damaging	1.00
R1826:Zfp94	UTSW	7	24,008,540 (GRCm39)	missense	probably damaging	1.00
R1861:Zfp94	UTSW	7	24,008,541 (GRCm39)	missense	probably damaging	1.00
R3932:Zfp94	UTSW	7	24,003,112 (GRCm39)	missense	probably benign	0.06
R4912:Zfp94	UTSW	7	24,003,166 (GRCm39)	missense	probably benign	0.05
R5663:Zfp94	UTSW	7	24,002,252 (GRCm39)	missense	probably damaging	1.00
R7023:Zfp94	UTSW	7	24,002,821 (GRCm39)	missense	probably damaging	1.00
R7710:Zfp94	UTSW	7	24,003,107 (GRCm39)	missense	probably benign
R7810:Zfp94	UTSW	7	24,002,498 (GRCm39)	missense	probably benign	0.00
R8134:Zfp94	UTSW	7	24,003,166 (GRCm39)	missense	probably benign	0.40
R8291:Zfp94	UTSW	7	24,002,155 (GRCm39)	missense	probably damaging	1.00
R9421:Zfp94	UTSW	7	24,002,978 (GRCm39)	nonsense	probably null
Z1176:Zfp94	UTSW	7	24,003,236 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAAAGGCTTTCCCACACGTCTC -3'
(R):5'- TCGGTTATCGGGTCTCCAAG -3'

Sequencing Primer
(F):5'- CACACGTCTCACACTTATAGGG -3'
(R):5'- TCTCCAAGCCCATCAGGTGAG -3'

Posted On

2018-06-06