Mutagenetix > Incidental Mutations

Incidental Mutation 'R3547:Zfp319'

268261

Institutional Source

Beutler Lab

Gene Symbol

Zfp319

Ensembl Gene

ENSMUSG00000046556

Gene Name

zinc finger protein 319

Synonyms

MMRRC Submission

040666-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95323011-95331950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95328817 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 253 (S253P)

Ref Sequence

ENSEMBL: ENSMUSP00000053397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034245] [ENSMUST00000057717] [ENSMUST00000126180] [ENSMUST00000162294] [ENSMUST00000213059]

Predicted Effect

probably benign
Transcript: ENSMUST00000034245

SMART Domains

Protein: ENSMUSP00000034245
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	45	265	6.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057717
AA Change: S253P

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

SMART Domains

Protein: ENSMUSP00000053397
Gene: ENSMUSG00000046556
AA Change: S253P

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Blast:ZnF_C2H2	75	99	6e-7	BLAST
ZnF_C2H2	103	123	7.57e1	SMART
ZnF_C2H2	131	153	8.67e-1	SMART
low complexity region	168	189	N/A	INTRINSIC
ZnF_C2H2	201	223	9.73e-4	SMART
ZnF_C2H2	229	251	1.47e-3	SMART
ZnF_C2H2	257	279	1.12e-3	SMART
ZnF_C2H2	314	336	6.42e-4	SMART
ZnF_C2H2	342	364	1.2e-3	SMART
ZnF_C2H2	370	392	8.81e-2	SMART
ZnF_C2H2	398	418	2.75e1	SMART
ZnF_C2H2	427	449	1.84e-4	SMART
ZnF_C2H2	457	477	1.27e2	SMART
ZnF_C2H2	485	507	2.79e-4	SMART
ZnF_C2H2	513	535	6.42e-4	SMART
ZnF_C2H2	541	563	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126180

SMART Domains

Protein: ENSMUSP00000122529
Gene: ENSMUSG00000031792

Domain	Start	End	E-Value	Type
Pfam:HVSL	1	113	6.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145060

Predicted Effect

probably benign
Transcript: ENSMUST00000153991

Predicted Effect

probably benign
Transcript: ENSMUST00000162294

Predicted Effect

probably benign
Transcript: ENSMUST00000213059

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	C	A	15: 74,881,614	A18S	probably null	Het
Alg5	A	G	3: 54,749,315	R316G	probably benign	Het
Anapc1	T	C	2: 128,642,682	N1121D	possibly damaging	Het
Antxr2	A	T	5: 97,977,657	I247N	probably benign	Het
Arid5b	C	T	10: 68,098,462	G294S	probably benign	Het
Arl9	A	G	5: 77,010,479	D136G	probably benign	Het
Atxn1l	A	G	8: 109,732,349	L427P	possibly damaging	Het
Celf3	T	G	3: 94,488,538	C304G	probably damaging	Het
Clcc1	T	A	3: 108,668,113	C169S	probably benign	Het
Clec4a3	A	G	6: 122,964,280	E78G	probably damaging	Het
Clip1	A	G	5: 123,631,078	L532P	probably damaging	Het
Col12a1	T	G	9: 79,633,416	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,994,911	E228D	probably damaging	Het
Cx3cl1	A	C	8: 94,778,124	E56A	possibly damaging	Het
Eprs	G	A	1: 185,379,742		probably null	Het
Fap	A	C	2: 62,519,011	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095	T125A	probably benign	Het
Gdi1	T	A	X: 74,307,808	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,267,071	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,595,128	C436S	probably benign	Het
Grid2	T	C	6: 64,320,021	V456A	probably damaging	Het
Gstcd	G	T	3: 133,084,838	T56K	possibly damaging	Het
Hydin	G	A	8: 110,582,067	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,700,781	T113I	probably benign	Het
Igkv5-45	A	G	6: 69,776,256		probably benign	Het
Igsf10	G	A	3: 59,330,541	H740Y	probably benign	Het
Igsf10	C	A	3: 59,336,514	R133L	probably damaging	Het
Lcmt1	A	G	7: 123,400,479	E94G	probably benign	Het
Lrp1b	A	T	2: 40,600,288	L287H	probably damaging	Het
Map3k3	C	T	11: 106,142,553	Q211*	probably null	Het
Map4	T	A	9: 110,052,198	F43L	possibly damaging	Het
Mcf2	T	C	X: 60,135,446	K74R	probably damaging	Het
Mylk	G	A	16: 34,880,168	V460I	possibly damaging	Het
Nat1	A	G	8: 67,491,032	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,278,780	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,226,609	K143*	probably null	Het
Nlrp6	T	G	7: 140,926,769	V849G	probably benign	Het
Olfr549	A	G	7: 102,554,470	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,090,548	P16L	probably benign	Het
Pitx3	T	A	19: 46,136,109	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,550,685	I90F	probably damaging	Het
Prickle2	T	C	6: 92,411,137	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,283,816	K527E	probably benign	Het
Prune2	T	A	19: 17,124,348	S2405R	probably damaging	Het
Reln	A	G	5: 22,227,600	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,649,681	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,590,196	S217P	probably damaging	Het
Slc16a7	T	A	10: 125,294,700	K39*	probably null	Het
Slc22a17	A	G	14: 54,907,237	L573P	probably damaging	Het
Slc25a45	T	C	19: 5,884,546	Y181H	probably damaging	Het
Slc6a20a	A	G	9: 123,660,502	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,286,007	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,212,627	D397E	probably benign	Het
Ttn	T	A	2: 76,745,106	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,335,116	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,867,382	L487*	probably null	Het
Uprt	T	A	X: 104,483,328	L123H	probably damaging	Het
Usp9x	T	C	X: 13,128,390	L940P	probably benign	Het
Utp20	T	C	10: 88,782,689	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,024,849	I142T	possibly damaging	Het
Vps13d	T	G	4: 145,074,975	T3558P	probably damaging	Het
Zfp831	A	G	2: 174,657,683	S1265G	probably benign	Het

Other mutations in Zfp319

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Zfp319	APN	8	95328912	missense	probably benign	0.11
IGL02478:Zfp319	APN	8	95329093	missense	possibly damaging	0.95
IGL02563:Zfp319	APN	8	95323734	unclassified	probably benign
IGL02622:Zfp319	APN	8	95328961	missense	probably damaging	0.97
IGL02945:Zfp319	APN	8	95323818	unclassified	probably benign
Lanky	UTSW	8	95328105	frame shift	probably null
R0894:Zfp319	UTSW	8	95329622	unclassified	probably benign
R1898:Zfp319	UTSW	8	95328789	missense	probably damaging	1.00
R1937:Zfp319	UTSW	8	95328571	missense	probably damaging	1.00
R2127:Zfp319	UTSW	8	95323763	unclassified	probably benign
R2157:Zfp319	UTSW	8	95328031	missense	probably damaging	1.00
R2256:Zfp319	UTSW	8	95328501	missense	possibly damaging	0.47
R4665:Zfp319	UTSW	8	95325573	unclassified	probably benign
R5174:Zfp319	UTSW	8	95328169	splice site	probably null
R5249:Zfp319	UTSW	8	95328471	missense	probably benign	0.00
R5478:Zfp319	UTSW	8	95325565	unclassified	probably benign
R5623:Zfp319	UTSW	8	95325571	unclassified	probably benign
R6165:Zfp319	UTSW	8	95328105	frame shift	probably null
R7175:Zfp319	UTSW	8	95328782	missense	probably damaging	1.00
R7271:Zfp319	UTSW	8	95331843	unclassified	probably benign
R8303:Zfp319	UTSW	8	95329137	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACACTTGAAGGGCCTCTC -3'
(R):5'- GGAAAAGCCCTATAGCTGCC -3'

Sequencing Primer
(F):5'- ACTGTGCGTGCGCTCATG -3'
(R):5'- TGCCCCGTTTGCCAGAAG -3'

Posted On

2015-02-19