Mutagenetix > Incidental Mutation

Incidental Mutation 'R5392:Zfp119a'

425927

Institutional Source

Beutler Lab

Gene Symbol

Zfp119a

Ensembl Gene

ENSMUSG00000057835

Gene Name

zinc finger protein 119a

Synonyms

Mzf13, Zfp119

MMRRC Submission

042964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5392 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56171892-56185930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56173328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 172 (R172G)

Ref Sequence

ENSEMBL: ENSMUSP00000078587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079642]

AlphaFold

Q9JIC0

Predicted Effect

probably benign
Transcript: ENSMUST00000079642
AA Change: R172G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078587
Gene: ENSMUSG00000057835
AA Change: R172G

Domain	Start	End	E-Value	Type
KRAB	4	66	6.16e-15	SMART
ZnF_C2H2	155	177	1.57e2	SMART
ZnF_C2H2	261	283	2.14e2	SMART
ZnF_C2H2	289	311	6.78e-3	SMART
ZnF_C2H2	317	339	1.98e-4	SMART
ZnF_C2H2	345	367	4.17e-3	SMART
ZnF_C2H2	373	395	3.39e-3	SMART
ZnF_C2H2	401	423	1.64e-1	SMART
ZnF_C2H2	429	451	5.5e-3	SMART
ZnF_C2H2	457	479	1.51e0	SMART
ZnF_C2H2	485	507	6.32e-3	SMART
ZnF_C2H2	513	535	1.69e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,852,088 (GRCm39)		probably null	Het
Acyp1	T	C	12: 85,325,759 (GRCm39)		probably benign	Het
Ces1b	G	A	8: 93,798,590 (GRCm39)	R199C	probably damaging	Het
Col6a3	C	A	1: 90,729,017 (GRCm39)	R1308L	probably benign	Het
Cpa5	C	T	6: 30,630,829 (GRCm39)	Q364*	probably null	Het
Cyth4	T	A	15: 78,491,185 (GRCm39)	L88Q	probably damaging	Het
Dock7	A	G	4: 98,896,243 (GRCm39)	V59A	probably damaging	Het
Drd2	A	G	9: 49,306,928 (GRCm39)	N5D	possibly damaging	Het
Epsti1	T	C	14: 78,224,184 (GRCm39)	I272T	probably benign	Het
Fndc3b	A	T	3: 27,519,936 (GRCm39)	C568*	probably null	Het
Frmd4a	C	T	2: 4,599,384 (GRCm39)	A161V	probably damaging	Het
Gfpt1	A	G	6: 87,054,139 (GRCm39)	T465A	probably damaging	Het
Hecw1	C	A	13: 14,420,347 (GRCm39)	Q1025H	probably damaging	Het
Irak4	A	T	15: 94,454,565 (GRCm39)	M237L	probably benign	Het
Irak4	T	C	15: 94,454,566 (GRCm39)	M237T	probably benign	Het
Kdsr	T	A	1: 106,680,971 (GRCm39)	I76F	possibly damaging	Het
Kif15	T	C	9: 122,825,360 (GRCm39)	F533S	probably damaging	Het
Kmt5b	T	C	19: 3,852,127 (GRCm39)	F103L	possibly damaging	Het
Krtcap2	C	T	3: 89,154,186 (GRCm39)	L36F	probably benign	Het
Mroh7	A	G	4: 106,568,448 (GRCm39)		probably null	Het
Mta1	T	C	12: 113,096,856 (GRCm39)	V559A	probably benign	Het
N4bp1	A	G	8: 87,587,048 (GRCm39)		probably null	Het
Oas1d	T	C	5: 121,055,003 (GRCm39)	S192P	possibly damaging	Het
Or1n1b	T	A	2: 36,780,686 (GRCm39)	Y58F	probably benign	Het
Or6c76	A	G	10: 129,612,184 (GRCm39)	I149V	probably benign	Het
Or6d15	A	G	6: 116,559,379 (GRCm39)	F176S	probably damaging	Het
Rabgap1	T	A	2: 37,359,501 (GRCm39)	N21K	probably damaging	Het
Rad9b	A	T	5: 122,489,641 (GRCm39)	C25S	probably damaging	Het
Spg7	T	C	8: 123,814,102 (GRCm39)	S454P	probably damaging	Het
Spink2	T	A	5: 77,354,872 (GRCm39)	H40L	probably benign	Het
Syne1	T	A	10: 5,298,661 (GRCm39)	D1082V	probably damaging	Het
Syt2	A	G	1: 134,671,759 (GRCm39)	D179G	probably damaging	Het
Tm7sf2	T	C	19: 6,113,998 (GRCm39)	D181G	probably damaging	Het
Vmn1r174	A	G	7: 23,454,227 (GRCm39)	I298V	unknown	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vps9d1	T	C	8: 123,980,752 (GRCm39)	E25G	probably damaging	Het
Zfp51	A	T	17: 21,685,584 (GRCm39)	Y733F	possibly damaging	Het
Zfp658	A	C	7: 43,222,355 (GRCm39)	E210A	probably benign	Het
Zp2	C	A	7: 119,734,987 (GRCm39)	E433*	probably null	Het

Other mutations in Zfp119a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Zfp119a	APN	17	56,172,792 (GRCm39)	nonsense	probably null
R0421:Zfp119a	UTSW	17	56,172,248 (GRCm39)	nonsense	probably null
R1385:Zfp119a	UTSW	17	56,172,826 (GRCm39)	missense	probably damaging	1.00
R1600:Zfp119a	UTSW	17	56,175,355 (GRCm39)	missense	possibly damaging	0.93
R2310:Zfp119a	UTSW	17	56,172,440 (GRCm39)	missense	probably benign	0.00
R2924:Zfp119a	UTSW	17	56,175,343 (GRCm39)	missense	possibly damaging	0.96
R3910:Zfp119a	UTSW	17	56,173,520 (GRCm39)	missense	probably benign
R4594:Zfp119a	UTSW	17	56,173,325 (GRCm39)	missense	probably benign
R5217:Zfp119a	UTSW	17	56,172,425 (GRCm39)	nonsense	probably null
R5321:Zfp119a	UTSW	17	56,172,595 (GRCm39)	missense	probably damaging	1.00
R5678:Zfp119a	UTSW	17	56,175,336 (GRCm39)	missense	probably benign	0.03
R7033:Zfp119a	UTSW	17	56,173,009 (GRCm39)	missense	probably benign	0.04
R7355:Zfp119a	UTSW	17	56,173,287 (GRCm39)	nonsense	probably null
R7489:Zfp119a	UTSW	17	56,173,158 (GRCm39)	missense	probably damaging	1.00
R8130:Zfp119a	UTSW	17	56,172,971 (GRCm39)	missense	probably damaging	1.00
R8940:Zfp119a	UTSW	17	56,172,551 (GRCm39)	missense	probably damaging	1.00
R9542:Zfp119a	UTSW	17	56,172,593 (GRCm39)	nonsense	probably null
Z1176:Zfp119a	UTSW	17	56,173,011 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TCTTTCATGCTTGTGAAAATGACTTT -3'
(R):5'- TTTCCAGCCTCAGTGGGAATA -3'

Sequencing Primer
(F):5'- TGGGATACGAAAAAGCTTTACCC -3'
(R):5'- GTGGGAATACATCAAAATACTGACC -3'

Posted On

2016-08-04