Mutagenetix > Incidental Mutation

Incidental Mutation 'R2310:Zfp119a'

244759

Institutional Source

Beutler Lab

Gene Symbol

Zfp119a

Ensembl Gene

ENSMUSG00000057835

Gene Name

zinc finger protein 119a

Synonyms

Mzf13, Zfp119

MMRRC Submission

040309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56171892-56185930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56172440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 468 (Y468N)

Ref Sequence

ENSEMBL: ENSMUSP00000078587 (fasta)

Gene Model

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

AlphaFold

Q9JIC0

Predicted Effect

probably benign
Transcript: ENSMUST00000079642
AA Change: Y468N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000078587
Gene: ENSMUSG00000057835
AA Change: Y468N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.2%
20x: 94.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10l	A	C	4: 140,320,429 (GRCm39)	C136W	probably damaging	Het
Ascc3	T	A	10: 50,624,988 (GRCm39)	H1625Q	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpa3	C	T	3: 20,281,387 (GRCm39)	C173Y	probably damaging	Het
Cyp2c65	A	G	19: 39,081,826 (GRCm39)	T451A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Efhd1	T	C	1: 87,192,350 (GRCm39)	L60P	probably damaging	Het
Flrt2	A	G	12: 95,746,864 (GRCm39)	T401A	probably benign	Het
Frmd4a	GAA	G	2: 4,577,210 (GRCm39)		probably null	Het
Gas2l2	A	G	11: 83,318,265 (GRCm39)	V148A	possibly damaging	Het
Golga5	A	G	12: 102,458,420 (GRCm39)	E621G	probably damaging	Het
Gsap	A	T	5: 21,401,088 (GRCm39)	R74*	probably null	Het
Intu	C	T	3: 40,608,243 (GRCm39)	A85V	probably benign	Het
Kansl3	T	A	1: 36,382,445 (GRCm39)	I860F	probably damaging	Het
Kif23	A	G	9: 61,831,426 (GRCm39)	S715P	probably damaging	Het
Map3k8	A	T	18: 4,349,001 (GRCm39)	C106S	probably benign	Het
Mcc	T	C	18: 44,564,433 (GRCm39)	E934G	probably damaging	Het
Mrpl19	A	T	6: 81,941,054 (GRCm39)		probably null	Het
Msl3l2	C	A	10: 55,991,421 (GRCm39)	R49S	probably benign	Het
Muc6	T	A	7: 141,217,444 (GRCm39)	I2410F	possibly damaging	Het
Or2t6	A	G	14: 14,175,836 (GRCm38)	V82A	probably benign	Het
Or4a73	A	G	2: 89,420,794 (GRCm39)	S222P	probably damaging	Het
Pip5k1c	T	G	10: 81,142,142 (GRCm39)	S117R	probably damaging	Het
Ppfia2	T	C	10: 106,690,841 (GRCm39)	S561P	probably damaging	Het
Pramel13	A	T	4: 144,119,475 (GRCm39)		probably null	Het
Rassf5	A	T	1: 131,172,477 (GRCm39)	W131R	probably damaging	Het
Shq1	C	T	6: 100,607,963 (GRCm39)	W316*	probably null	Het
Slc45a4	A	G	15: 73,461,409 (GRCm39)	Y87H	probably damaging	Het
Sptbn2	A	G	19: 4,768,963 (GRCm39)	D32G	probably benign	Het
Tjp1	C	T	7: 64,979,490 (GRCm39)	R345Q	possibly damaging	Het
Tnrc18	C	G	5: 142,774,308 (GRCm39)	V174L	probably damaging	Het
Trmt6	G	T	2: 132,650,832 (GRCm39)	P259T	probably damaging	Het
Ubap1	T	A	4: 41,379,341 (GRCm39)	V185E	possibly damaging	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Wnk2	T	C	13: 49,204,053 (GRCm39)	T1979A	probably damaging	Het
Xirp2	A	G	2: 67,356,591 (GRCm39)	D3784G	probably benign	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
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
R5392:Zfp119a	UTSW	17	56,173,328 (GRCm39)	missense	probably benign	0.03
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'- GTGTGTTACCCAAGACTATTCCTC -3'
(R):5'- TGTAACAGTCACCTTCAAATGC -3'

Sequencing Primer
(F):5'- TGCTCTTGAAGAGTACTGAGACATGC -3'
(R):5'- AGTCACCTTCAAATGCATGAAAG -3'

Posted On

2014-10-30