Mutagenetix > Incidental Mutation

Incidental Mutation 'R5321:Zfp119a'

406126

Institutional Source

Beutler Lab

Gene Symbol

Zfp119a

Ensembl Gene

ENSMUSG00000057835

Gene Name

zinc finger protein 119a

Synonyms

Mzf13, Zfp119

MMRRC Submission

042904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56171892-56185930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56172595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 416 (L416H)

Ref Sequence

ENSEMBL: ENSMUSP00000078587 (fasta)

Gene Model

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

AlphaFold

Q9JIC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000079642
AA Change: L416H

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

SMART Domains

Protein: ENSMUSP00000078587
Gene: ENSMUSG00000057835
AA Change: L416H

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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,218,651 (GRCm39)	F72L	probably benign	Het
Btrc	G	A	19: 45,496,197 (GRCm39)	V211M	probably damaging	Het
Col6a5	A	T	9: 105,805,664 (GRCm39)	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,504,118 (GRCm39)	Y109C	probably benign	Het
Dlec1	T	A	9: 118,941,669 (GRCm39)	S352T	probably benign	Het
Dzip3	T	G	16: 48,778,038 (GRCm39)	T349P	possibly damaging	Het
Endou	A	G	15: 97,618,913 (GRCm39)	V37A	probably damaging	Het
Exosc1	A	T	19: 41,912,499 (GRCm39)	C129*	probably null	Het
Flywch1	C	G	17: 23,975,625 (GRCm39)	R539P	probably damaging	Het
Gm14410	G	A	2: 176,885,298 (GRCm39)	T322I	probably damaging	Het
Lcor	G	T	19: 41,573,643 (GRCm39)	W799C	probably damaging	Het
Lpin2	G	A	17: 71,553,853 (GRCm39)	V857M	probably damaging	Het
Or52ae9	T	C	7: 103,389,862 (GRCm39)	N195S	probably damaging	Het
Patl1	A	G	19: 11,898,785 (GRCm39)	Q160R	probably damaging	Het
Phtf1	C	T	3: 103,910,827 (GRCm39)	T606I	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,403,370 (GRCm39)	S207G	unknown	Het
Slc15a5	G	T	6: 137,964,436 (GRCm39)	N496K	probably benign	Het
Slc34a1	A	T	13: 23,996,614 (GRCm39)	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,177,519 (GRCm39)	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,332,965 (GRCm39)	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,939,865 (GRCm39)	C35R	probably damaging	Het
Tpte	A	T	8: 22,787,219 (GRCm39)	R33*	probably null	Het
Trpv2	T	A	11: 62,475,397 (GRCm39)	L270H	probably damaging	Het
Utp18	A	G	11: 93,757,260 (GRCm39)	L468P	probably damaging	Het
Uxs1	A	G	1: 43,844,805 (GRCm39)	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,409,427 (GRCm39)	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,933,182 (GRCm39)	L112*	probably null	Het
Vmn1r5	T	C	6: 56,962,592 (GRCm39)	L89P	probably damaging	Het
Vmn2r10	G	T	5: 109,143,505 (GRCm39)	A815E	probably damaging	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
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'- TGGTAAAGCCTTTGCATATCGC -3'

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

Posted On

2016-07-22