Mutagenetix > Incidental Mutations

Incidental Mutation 'R2364:Zfp317'

247276

Institutional Source

Beutler Lab

Gene Symbol

Zfp317

Ensembl Gene

ENSMUSG00000057551

Gene Name

zinc finger protein 317

Synonyms

Zfp67, KRAB9, Zfp75, D230022C05Rik

MMRRC Submission

040345-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2364 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19622102-19649731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19647735 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 415 (D415G)

Ref Sequence

ENSEMBL: ENSMUSP00000151161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079042] [ENSMUST00000208694] [ENSMUST00000213725] [ENSMUST00000215372]

Predicted Effect

probably benign
Transcript: ENSMUST00000079042
AA Change: D504G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078051
Gene: ENSMUSG00000057551
AA Change: D504G

Domain	Start	End	E-Value	Type
KRAB	60	120	4.58e-32	SMART
ZnF_C2H2	223	245	1.79e-2	SMART
ZnF_C2H2	251	273	6.88e-4	SMART
ZnF_C2H2	279	301	2.24e-3	SMART
ZnF_C2H2	307	329	1.1e-2	SMART
ZnF_C2H2	335	357	7.37e-4	SMART
ZnF_C2H2	363	385	8.47e-4	SMART
ZnF_C2H2	391	413	1.3e-4	SMART
ZnF_C2H2	419	441	3.63e-3	SMART
ZnF_C2H2	447	469	3.34e-2	SMART
ZnF_C2H2	475	497	4.47e-3	SMART
ZnF_C2H2	503	525	9.73e-4	SMART
ZnF_C2H2	531	553	5.9e-3	SMART
ZnF_C2H2	559	581	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208694
AA Change: D504G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000213725
AA Change: D415G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000215372
AA Change: D504G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 138,165,823	S268P	probably benign	Het
Adam6a	A	G	12: 113,544,630	K208E	probably benign	Het
Anks6	A	G	4: 47,027,248	S725P	possibly damaging	Het
Asb3	A	G	11: 31,101,192	I549V	probably benign	Het
Blvrb	A	G	7: 27,448,133	I6V	possibly damaging	Het
Cabs1	A	T	5: 87,980,233	T248S	probably benign	Het
Cdk5rap2	A	G	4: 70,360,809		probably null	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Fpr1	A	T	17: 17,877,610	L39*	probably null	Het
Gstm5	A	G	3: 107,896,371	E40G	probably benign	Het
Hnrnpr	A	G	4: 136,327,329	M97V	possibly damaging	Het
Hs6st1	T	C	1: 36,068,719	V21A	probably benign	Het
Hsp90aa1	A	T	12: 110,692,753	F537I	probably damaging	Het
Insr	T	C	8: 3,174,820	D216G	probably benign	Het
Kif2a	A	T	13: 106,976,836	N428K	probably damaging	Het
Mapk10	G	T	5: 103,038,641	N38K	possibly damaging	Het
Myh8	A	G	11: 67,294,518	E865G	probably benign	Het
Olfr1328	C	T	4: 118,934,033	E272K	probably benign	Het
Olfr1457	A	G	19: 13,094,754	V298A	probably damaging	Het
Olfr357	T	C	2: 36,997,565	Y252H	probably damaging	Het
Olfr731	A	T	14: 50,238,155	H243Q	probably damaging	Het
Os9	T	A	10: 127,119,138	K180N	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,938	I506F	probably damaging	Het
Pros1	T	G	16: 62,913,848	L339R	probably damaging	Het
Srp72	A	G	5: 76,984,362	I266V	probably benign	Het
Tmem245	A	G	4: 56,899,391	V632A	probably damaging	Het
Tpcn1	G	T	5: 120,553,494	C298*	probably null	Het
Ubfd1	T	A	7: 122,068,944	D232E	probably benign	Het
Vamp1	A	T	6: 125,240,343	I117L	probably benign	Het
Wwtr1	T	C	3: 57,462,603	T364A	possibly damaging	Het
Zfp143	C	A	7: 110,083,242	T339K	probably damaging	Het
Zfp628	A	G	7: 4,920,687	H636R	probably damaging	Het
Zfp651	C	T	9: 121,767,594	P672L	probably damaging	Het

Other mutations in Zfp317

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02425:Zfp317	APN	9	19643613	nonsense	probably null
R1520:Zfp317	UTSW	9	19647848	missense	possibly damaging	0.95
R1646:Zfp317	UTSW	9	19647312	missense	probably damaging	1.00
R1860:Zfp317	UTSW	9	19641984	missense	possibly damaging	0.85
R2029:Zfp317	UTSW	9	19645236	missense	probably benign	0.13
R4006:Zfp317	UTSW	9	19648037	missense	possibly damaging	0.82
R4031:Zfp317	UTSW	9	19646712	missense	possibly damaging	0.53
R4293:Zfp317	UTSW	9	19646694	splice site	probably null
R4897:Zfp317	UTSW	9	19646847	missense	probably benign	0.28
R5593:Zfp317	UTSW	9	19647288	missense	probably damaging	1.00
R6077:Zfp317	UTSW	9	19646888	missense	probably benign	0.00
R6573:Zfp317	UTSW	9	19645254	missense	probably damaging	0.99
R6652:Zfp317	UTSW	9	19647039	missense	probably damaging	1.00
R6750:Zfp317	UTSW	9	19647804	missense	probably damaging	1.00
R6875:Zfp317	UTSW	9	19643665	missense	probably damaging	0.98
R7688:Zfp317	UTSW	9	19647955	missense	probably damaging	1.00
R8054:Zfp317	UTSW	9	19641969	missense	probably benign	0.00
Z1177:Zfp317	UTSW	9	19647030	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGATCTCTGCGGCAAAG -3'
(R):5'- GTGGGTTTTCACATGACTCCTAAG -3'

Sequencing Primer
(F):5'- GGCAAAGCCTTCAGTGCTAGTTC -3'
(R):5'- GTTTTCACATGACTCCTAAGGGACG -3'

Posted On

2014-10-30