Mutagenetix > Incidental Mutation

Incidental Mutation 'R3792:Zfp128'

272587

Institutional Source

Beutler Lab

Gene Symbol

Zfp128

Ensembl Gene

ENSMUSG00000060397

Gene Name

zinc finger protein 128

Synonyms

mZnf8, 9630016P15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R3792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12615105-12627349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12618659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 52 (D52E)

Ref Sequence

ENSEMBL: ENSMUSP00000115378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144578]

AlphaFold

Q8BGV5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000081891

Predicted Effect

probably damaging
Transcript: ENSMUST00000144578
AA Change: D52E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115378
Gene: ENSMUSG00000060397
AA Change: D52E

Domain	Start	End	E-Value	Type
KRAB	25	85	2.51e-38	SMART
ZnF_C2H2	254	276	8.47e-4	SMART
ZnF_C2H2	282	304	5.21e-4	SMART
ZnF_C2H2	310	332	4.17e-3	SMART
ZnF_C2H2	338	360	3.89e-3	SMART
ZnF_C2H2	366	388	1.47e-3	SMART
ZnF_C2H2	394	416	8.47e-4	SMART
ZnF_C2H2	464	486	3.39e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	G	X: 80,464,423 (GRCm39)	V428A	probably benign	Het
Aanat	T	C	11: 116,487,057 (GRCm39)	L88P	probably damaging	Het
Arhgap5	A	T	12: 52,566,671 (GRCm39)	N1214I	probably benign	Het
BC034090	A	T	1: 155,117,543 (GRCm39)	S192T	probably damaging	Het
Bco1	G	A	8: 117,857,415 (GRCm39)	V461I	possibly damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cripto	C	T	9: 110,772,258 (GRCm39)	R46Q	probably benign	Het
Cubn	G	A	2: 13,432,725 (GRCm39)	R1199C	probably damaging	Het
Dcaf12l1	T	C	X: 43,877,313 (GRCm39)	N495S	possibly damaging	Het
Dop1b	C	A	16: 93,568,734 (GRCm39)	Q1599K	possibly damaging	Het
Dyrk1a	C	A	16: 94,485,933 (GRCm39)	L427I	probably benign	Het
Esp16	T	C	17: 39,848,739 (GRCm39)	I11T	possibly damaging	Het
Esyt3	A	T	9: 99,197,334 (GRCm39)	F832Y	possibly damaging	Het
F8	A	T	X: 74,328,971 (GRCm39)		probably null	Het
Fam135a	T	C	1: 24,067,392 (GRCm39)	Y259C	probably benign	Het
Fbxo38	T	C	18: 62,666,533 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,163,005 (GRCm39)	I67M	probably benign	Het
Gcfc2	G	T	6: 81,907,748 (GRCm39)	C154F	probably benign	Het
Hipk2	C	T	6: 38,675,491 (GRCm39)	R1029H	probably damaging	Het
Ilk	G	A	7: 105,391,294 (GRCm39)	W73*	probably null	Het
Ism1	T	C	2: 139,582,173 (GRCm39)	S162P	probably damaging	Het
Itpkb	T	A	1: 180,160,738 (GRCm39)	L288Q	possibly damaging	Het
Itpr2	C	A	6: 146,316,852 (GRCm39)	K306N	probably damaging	Het
Kdm2a	C	T	19: 4,374,540 (GRCm39)	E864K	possibly damaging	Het
Kdm4b	G	A	17: 56,662,944 (GRCm39)	V172M	probably damaging	Het
Kyat3	A	T	3: 142,443,605 (GRCm39)	K406M	probably null	Het
Lipe	T	A	7: 25,097,045 (GRCm39)	K299N	possibly damaging	Het
Lrrc2	T	A	9: 110,795,585 (GRCm39)	C123*	probably null	Het
Mptx2	T	A	1: 173,102,240 (GRCm39)	I150F	probably damaging	Het
Mroh2b	G	T	15: 4,953,102 (GRCm39)	W612L	probably damaging	Het
Mucl2	T	C	15: 103,928,692 (GRCm39)	T27A	possibly damaging	Het
Nfx1	T	A	4: 41,004,357 (GRCm39)	C709*	probably null	Het
Oprm1	T	C	10: 6,789,544 (GRCm39)	S390P	probably benign	Het
Or2m12	A	G	16: 19,104,696 (GRCm39)	S266P	possibly damaging	Het
Or51v8	A	T	7: 103,319,353 (GRCm39)	I295N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,715 (GRCm39)	L607P	probably damaging	Het
Rap1gds1	A	T	3: 138,671,721 (GRCm39)	I133N	probably damaging	Het
Rasl10a	T	C	11: 5,009,461 (GRCm39)	L83S	probably damaging	Het
Satb2	C	T	1: 56,884,779 (GRCm39)	V382M	probably damaging	Het
Sh3gl1	T	C	17: 56,325,949 (GRCm39)	K160R	probably damaging	Het
Sirt4	T	C	5: 115,618,351 (GRCm39)	D241G	probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spef2	A	G	15: 9,704,622 (GRCm39)	I454T	probably damaging	Het
Stag3	A	G	5: 138,296,611 (GRCm39)	K490E	probably benign	Het
Tcstv7b	G	T	13: 120,702,467 (GRCm39)	V88F	probably damaging	Het
Tctn3	T	C	19: 40,600,155 (GRCm39)	K95R	probably benign	Het
Trp53bp1	T	C	2: 121,030,810 (GRCm39)	I1784V	probably damaging	Het
Ttc21a	A	T	9: 119,783,231 (GRCm39)	E511V	probably damaging	Het
Ttn	A	G	2: 76,542,232 (GRCm39)	F25258L	probably damaging	Het
Ttn	A	C	2: 76,639,290 (GRCm39)	C13828G	probably damaging	Het
Vmn1r210	T	A	13: 23,011,573 (GRCm39)	M238L	probably damaging	Het
Vmn1r38	A	G	6: 66,753,891 (GRCm39)	I75T	probably benign	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwa7	T	C	17: 35,244,135 (GRCm39)		probably null	Het
Zfp618	T	C	4: 63,033,728 (GRCm39)		probably benign	Het
Zkscan2	T	A	7: 123,084,225 (GRCm39)	E633V	possibly damaging	Het

Other mutations in Zfp128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Zfp128	APN	7	12,624,949 (GRCm39)	missense	probably benign	0.00
IGL01293:Zfp128	APN	7	12,625,351 (GRCm39)	makesense	probably null
IGL02067:Zfp128	APN	7	12,618,977 (GRCm39)	missense	possibly damaging	0.86
IGL02146:Zfp128	APN	7	12,623,959 (GRCm39)	missense	possibly damaging	0.72
IGL02654:Zfp128	APN	7	12,618,606 (GRCm39)	missense	possibly damaging	0.95
IGL03066:Zfp128	APN	7	12,624,044 (GRCm39)	missense	probably benign	0.00
IGL03076:Zfp128	APN	7	12,618,636 (GRCm39)	missense	possibly damaging	0.95
IGL03113:Zfp128	APN	7	12,624,314 (GRCm39)	missense	probably benign	0.00
IGL03237:Zfp128	APN	7	12,624,953 (GRCm39)	missense	probably benign	0.28
prayer	UTSW	7	12,624,563 (GRCm39)	nonsense	probably null
R0783:Zfp128	UTSW	7	12,624,199 (GRCm39)	missense	probably damaging	1.00
R1686:Zfp128	UTSW	7	12,624,563 (GRCm39)	nonsense	probably null
R1806:Zfp128	UTSW	7	12,624,949 (GRCm39)	missense	probably benign	0.00
R2021:Zfp128	UTSW	7	12,623,956 (GRCm39)	missense	possibly damaging	0.96
R4105:Zfp128	UTSW	7	12,618,667 (GRCm39)	missense	probably damaging	0.99
R4167:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R4168:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R5743:Zfp128	UTSW	7	12,618,654 (GRCm39)	missense	probably damaging	1.00
R6266:Zfp128	UTSW	7	12,624,897 (GRCm39)	missense	possibly damaging	0.80
R6799:Zfp128	UTSW	7	12,624,826 (GRCm39)	missense	possibly damaging	0.93
R7102:Zfp128	UTSW	7	12,624,399 (GRCm39)	missense	probably damaging	1.00
R7313:Zfp128	UTSW	7	12,624,461 (GRCm39)	missense	possibly damaging	0.94
R7428:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R7504:Zfp128	UTSW	7	12,624,405 (GRCm39)	missense	probably damaging	0.99
R7539:Zfp128	UTSW	7	12,624,479 (GRCm39)	nonsense	probably null
R7636:Zfp128	UTSW	7	12,624,039 (GRCm39)	missense	probably benign
R7755:Zfp128	UTSW	7	12,624,240 (GRCm39)	nonsense	probably null
R7820:Zfp128	UTSW	7	12,624,949 (GRCm39)	missense	probably benign	0.00
R8269:Zfp128	UTSW	7	12,624,663 (GRCm39)	missense	probably damaging	1.00
R8932:Zfp128	UTSW	7	12,625,113 (GRCm39)	missense	possibly damaging	0.91
R9361:Zfp128	UTSW	7	12,624,364 (GRCm39)	missense	probably damaging	0.99
R9381:Zfp128	UTSW	7	12,624,897 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CTGAGGCACATCAGTCAGAG -3'
(R):5'- TGGGTATCTCACAGTCACATGAG -3'

Sequencing Primer
(F):5'- GAGTGTACAGTTTGTCAAGACCCC -3'
(R):5'- ATCTCACAGTCACATGAGGGTTTTG -3'

Posted On

2015-03-25