Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Zfp94'

61069

Institutional Source

Beutler Lab

Gene Symbol

Zfp94

Ensembl Gene

ENSMUSG00000074282

Gene Name

zinc finger protein 94

Synonyms

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

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

Stock #

R0684 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

24001129-24016091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24002495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 316 (S316T)

Ref Sequence

ENSEMBL: ENSMUSP00000104075 (fasta)

Gene Model

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

AlphaFold

E9Q6Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000032673
AA Change: S310T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032673
Gene: ENSMUSG00000074282
AA Change: S310T

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

probably damaging
Transcript: ENSMUST00000108436
AA Change: S316T

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

SMART Domains

Protein: ENSMUSP00000104075
Gene: ENSMUSG00000074282
AA Change: S316T

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: ENSMUST00000206535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146817

Meta Mutation Damage Score

0.2817

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,260,593 (GRCm39)	E419G	probably benign	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,646,025 (GRCm39)	T65S	probably benign	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Or52n2b	T	A	7: 104,565,841 (GRCm39)	T221S	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Rae1	G	A	2: 172,846,957 (GRCm39)	R67H	probably damaging	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Slc38a2	A	T	15: 96,593,168 (GRCm39)	L137*	probably null	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	probably benign	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
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
R6539:Zfp94	UTSW	7	24,002,716 (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'- CGCACTCCTCACATTGATAGGGTC -3'
(R):5'- TGCCATGCTTGCTGGAAGAGTTTC -3'

Sequencing Primer
(F):5'- GATAGGGTCTCTCTCCCGTG -3'
(R):5'- gcgaggagtgtgggaaag -3'

Posted On

2013-07-30