Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Zfp94'

187999

Institutional Source

Beutler Lab

Gene Symbol

Zfp94

Ensembl Gene

ENSMUSG00000074282

Gene Name

zinc finger protein 94

Synonyms

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24001129-24016091 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24002259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 394 (K394N)

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: K388N

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

SMART Domains

Protein: ENSMUSP00000032673
Gene: ENSMUSG00000074282
AA Change: K388N

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: K394N

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

SMART Domains

Protein: ENSMUSP00000104075
Gene: ENSMUSG00000074282
AA Change: K394N

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: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,302,570 (GRCm39)		probably null	Het
Adam6b	T	C	12: 113,454,664 (GRCm39)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 26,972,497 (GRCm39)		probably null	Het
Anapc2	G	A	2: 25,162,651 (GRCm39)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,802,211 (GRCm39)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,638,518 (GRCm39)	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,707,141 (GRCm39)	S279P	probably benign	Het
Atp10b	A	G	11: 43,116,475 (GRCm39)	T941A	probably damaging	Het
Barhl1	C	T	2: 28,805,423 (GRCm39)	R90Q	possibly damaging	Het
Calr3	T	C	8: 73,185,302 (GRCm39)	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,870,566 (GRCm39)	D317G	probably damaging	Het
Cnn3	C	T	3: 121,250,818 (GRCm39)	Q19*	probably null	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp4x1	T	C	4: 114,984,757 (GRCm39)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,246,687 (GRCm39)	M138L	probably benign	Het
Dnah6	A	T	6: 73,106,523 (GRCm39)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,165,686 (GRCm39)	S88T	probably benign	Het
Eno3	T	C	11: 70,549,492 (GRCm39)		probably null	Het
Erbb3	C	A	10: 128,407,073 (GRCm39)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,977,686 (GRCm39)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,557,359 (GRCm39)	Q65*	probably null	Het
Gin1	T	A	1: 97,713,780 (GRCm39)	L360*	probably null	Het
Gldc	A	T	19: 30,120,853 (GRCm39)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,057,063 (GRCm39)	T52S	possibly damaging	Het
Hip1r	A	G	5: 124,132,883 (GRCm39)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,268,631 (GRCm39)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 35,196,419 (GRCm39)	N153D	probably damaging	Het
Itga8	C	A	2: 12,204,974 (GRCm39)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,462,547 (GRCm39)	A134V	probably benign	Het
Kif18a	T	A	2: 109,128,748 (GRCm39)	C406S	probably benign	Het
Klhl28	A	T	12: 64,998,593 (GRCm39)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,687,451 (GRCm39)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,372,281 (GRCm39)	T222A	probably benign	Het
Lipn	G	A	19: 34,058,110 (GRCm39)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,787,800 (GRCm39)	E144K	probably damaging	Het
Mal	T	C	2: 127,476,964 (GRCm39)	Y77C	probably benign	Het
Map1a	T	A	2: 121,133,136 (GRCm39)	C1079*	probably null	Het
Mbd5	T	A	2: 49,146,230 (GRCm39)	S147T	possibly damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or1ad8	T	C	11: 50,898,464 (GRCm39)	F222L	probably benign	Het
Or5an1c	C	T	19: 12,218,195 (GRCm39)	V277I	probably benign	Het
Or6p1	T	C	1: 174,258,663 (GRCm39)	V223A	probably benign	Het
Rcor2	C	T	19: 7,247,546 (GRCm39)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,853,537 (GRCm39)	D107E	probably benign	Het
Rpl7l1	A	T	17: 47,089,117 (GRCm39)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,362,073 (GRCm39)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,557,048 (GRCm39)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,579,790 (GRCm39)	D781G	probably damaging	Het
Tasor2	T	C	13: 3,619,507 (GRCm39)	I2241M	possibly damaging	Het
Tprn	T	G	2: 25,154,421 (GRCm39)	D574E	probably benign	Het
Trim75	T	A	8: 65,435,163 (GRCm39)	E429V	probably damaging	Het
Trit1	C	T	4: 122,948,029 (GRCm39)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,546,332 (GRCm39)		probably null	Het
Usp49	C	A	17: 47,984,335 (GRCm39)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,408,937 (GRCm39)	C88R	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
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
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'- GATGCAGGCAAATCCTTGCGAC -3'
(R):5'- ACAGTGAAGACAAACCGTACCAGTG -3'

Sequencing Primer
(F):5'- tggtgaattaggagacttgagc -3'
(R):5'- CGCAGAGTGTGGGAGGG -3'

Posted On

2014-05-09