Mutagenetix > Incidental Mutation

Incidental Mutation 'R0152:Zfp68'

22775

Institutional Source

Beutler Lab

Gene Symbol

Zfp68

Ensembl Gene

ENSMUSG00000058291

Gene Name

zinc finger protein 68

Synonyms

KRAZ2, Zfp70, Zfp68, KRAB3

MMRRC Submission

038435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R0152 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

138601914-138618005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138604875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 445 (K445E)

Ref Sequence

ENSEMBL: ENSMUSP00000083013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063262] [ENSMUST00000085852] [ENSMUST00000110905]

AlphaFold

Q9Z116

Predicted Effect

probably damaging
Transcript: ENSMUST00000063262
AA Change: K483E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069615
Gene: ENSMUSG00000058291
AA Change: K483E

Domain	Start	End	E-Value	Type
KRAB	10	70	1.11e-30	SMART
ZnF_C2H2	317	339	1.58e-3	SMART
ZnF_C2H2	345	367	3.16e-3	SMART
ZnF_C2H2	373	395	5.5e-3	SMART
ZnF_C2H2	401	423	2.27e-4	SMART
ZnF_C2H2	429	451	3.44e-4	SMART
ZnF_C2H2	457	479	3.07e-1	SMART
ZnF_C2H2	485	507	2.09e-3	SMART
ZnF_C2H2	513	535	3.29e-1	SMART
ZnF_C2H2	541	563	2.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085852
AA Change: K445E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083013
Gene: ENSMUSG00000058291
AA Change: K445E

Domain	Start	End	E-Value	Type
KRAB	1	32	6e-1	SMART
ZnF_C2H2	279	301	1.58e-3	SMART
ZnF_C2H2	307	329	3.16e-3	SMART
ZnF_C2H2	335	357	5.5e-3	SMART
ZnF_C2H2	363	385	2.27e-4	SMART
ZnF_C2H2	391	413	3.44e-4	SMART
ZnF_C2H2	419	441	3.07e-1	SMART
ZnF_C2H2	447	469	2.09e-3	SMART
ZnF_C2H2	475	497	3.29e-1	SMART
ZnF_C2H2	503	525	2.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110905
AA Change: K483E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106530
Gene: ENSMUSG00000058291
AA Change: K483E

Domain	Start	End	E-Value	Type
KRAB	10	70	1.11e-30	SMART
ZnF_C2H2	317	339	1.58e-3	SMART
ZnF_C2H2	345	367	3.16e-3	SMART
ZnF_C2H2	373	395	5.5e-3	SMART
ZnF_C2H2	401	423	2.27e-4	SMART
ZnF_C2H2	429	451	3.44e-4	SMART
ZnF_C2H2	457	479	3.07e-1	SMART
ZnF_C2H2	485	507	2.09e-3	SMART
ZnF_C2H2	513	535	3.29e-1	SMART
ZnF_C2H2	541	563	2.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197654

Meta Mutation Damage Score

0.2148

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.5%

Validation Efficiency

87% (40/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,688 (GRCm39)	D834G	probably damaging	Het
Abca13	T	A	11: 9,531,724 (GRCm39)	H4650Q	probably damaging	Het
Aqr	T	A	2: 113,989,491 (GRCm39)	T111S	probably benign	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgap44	G	T	11: 64,902,745 (GRCm39)	A574E	probably benign	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Car5a	T	A	8: 122,643,185 (GRCm39)	N273I	probably damaging	Het
Cd4	G	A	6: 124,844,709 (GRCm39)	Q359*	probably null	Het
Cgrrf1	G	A	14: 47,091,370 (GRCm39)	C298Y	probably damaging	Het
Clip3	G	A	7: 30,002,857 (GRCm39)	A416T	probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eif3e	G	A	15: 43,115,632 (GRCm39)	A378V	possibly damaging	Het
Ercc6	C	G	14: 32,268,862 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,389,606 (GRCm39)	V104A	probably damaging	Het
Exph5	T	A	9: 53,264,504 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,539,630 (GRCm39)	Y2954N	probably benign	Het
Itga2	C	T	13: 115,002,850 (GRCm39)	G547R	probably benign	Het
Kbtbd11	T	C	8: 15,077,428 (GRCm39)	V9A	probably damaging	Het
Ldb2	T	C	5: 44,699,141 (GRCm39)	D99G	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Mgarp	T	C	3: 51,296,384 (GRCm39)	D228G	probably benign	Het
Myh14	A	T	7: 44,272,605 (GRCm39)	L1441Q	probably damaging	Het
Obscn	T	C	11: 58,943,402 (GRCm39)	D4810G	probably benign	Het
Or10ak9	T	A	4: 118,726,083 (GRCm39)	I34N	possibly damaging	Het
Or14c40	A	T	7: 86,313,719 (GRCm39)	Y283F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5b12	A	G	19: 12,897,472 (GRCm39)	V67A	possibly damaging	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pdpk1	C	T	17: 24,325,920 (GRCm39)	R92H	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc26a4	T	C	12: 31,579,497 (GRCm39)	I588M	probably damaging	Het
Slc9a2	A	G	1: 40,781,964 (GRCm39)	T398A	probably damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Usp3	T	C	9: 66,447,432 (GRCm39)	T181A	probably damaging	Het
Vars2	A	G	17: 35,970,919 (GRCm39)	L637P	probably damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Zbtb38	T	C	9: 96,568,333 (GRCm39)	Y917C	probably damaging	Het
Zmynd10	A	G	9: 107,428,144 (GRCm39)		probably null	Het

Other mutations in Zfp68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02167:Zfp68	APN	5	138,604,629 (GRCm39)	missense	probably benign	0.00
R0040:Zfp68	UTSW	5	138,606,041 (GRCm39)	missense	probably benign	0.24
R0040:Zfp68	UTSW	5	138,606,041 (GRCm39)	missense	probably benign	0.24
R0390:Zfp68	UTSW	5	138,605,487 (GRCm39)	missense	probably benign	0.14
R1490:Zfp68	UTSW	5	138,605,091 (GRCm39)	missense	probably benign	0.16
R4688:Zfp68	UTSW	5	138,614,743 (GRCm39)	nonsense	probably null
R4992:Zfp68	UTSW	5	138,605,599 (GRCm39)	missense	possibly damaging	0.50
R5072:Zfp68	UTSW	5	138,604,579 (GRCm39)	missense	probably benign	0.01
R7076:Zfp68	UTSW	5	138,605,201 (GRCm39)	missense	possibly damaging	0.49
R7117:Zfp68	UTSW	5	138,604,580 (GRCm39)	missense	probably benign	0.01
R7332:Zfp68	UTSW	5	138,604,830 (GRCm39)	missense	possibly damaging	0.90
R8399:Zfp68	UTSW	5	138,606,082 (GRCm39)	missense	probably benign	0.02
R9012:Zfp68	UTSW	5	138,605,283 (GRCm39)	missense	probably damaging	1.00
R9041:Zfp68	UTSW	5	138,604,699 (GRCm39)	nonsense	probably null
R9475:Zfp68	UTSW	5	138,605,517 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGGTCCCCTTAGCTGTAAGAAGAAT -3'
(R):5'- GCATGAGAAGCTCTTTATCCAGAAGGAA -3'

Sequencing Primer
(F):5'- cttcatactatgaatcttctgatgcc -3'
(R):5'- atgaatgtaaggaatgtgggaaag -3'

Posted On

2013-04-16