Mutagenetix > Incidental Mutation

Incidental Mutation 'R5264:Zfp617'

401604

Institutional Source

Beutler Lab

Gene Symbol

Zfp617

Ensembl Gene

ENSMUSG00000066880

Gene Name

zinc finger protein 617

Synonyms

Zfps11-6, Zinc finger protein s11-6

MMRRC Submission

042832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R5264 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72676669-72688474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72686885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 405 (Y405C)

Ref Sequence

ENSEMBL: ENSMUSP00000112926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119003] [ENSMUST00000131544]

AlphaFold

Q91WM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000119003
AA Change: Y405C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112926
Gene: ENSMUSG00000066880
AA Change: Y405C

Domain	Start	End	E-Value	Type
KRAB	4	56	1.08e-10	SMART
ZnF_C2H2	167	189	8.47e-4	SMART
ZnF_C2H2	195	217	8.34e-3	SMART
ZnF_C2H2	223	245	1.28e-3	SMART
ZnF_C2H2	251	273	1.28e-3	SMART
ZnF_C2H2	279	301	1.58e-3	SMART
ZnF_C2H2	307	329	1.28e-3	SMART
ZnF_C2H2	335	357	9.73e-4	SMART
ZnF_C2H2	363	385	6.42e-4	SMART
ZnF_C2H2	391	413	4.47e-3	SMART
ZnF_C2H2	419	441	1.38e-3	SMART
ZnF_C2H2	447	469	1.2e-3	SMART
ZnF_C2H2	475	497	1.56e-2	SMART
ZnF_C2H2	503	525	2.36e-2	SMART
ZnF_C2H2	531	553	4.98e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131544

SMART Domains

Protein: ENSMUSP00000120213
Gene: ENSMUSG00000066880

Domain	Start	End	E-Value	Type
KRAB	4	56	1.08e-10	SMART
ZnF_C2H2	167	189	8.47e-4	SMART
ZnF_C2H2	195	217	8.34e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ckap2l	A	T	2: 129,127,299 (GRCm39)	M293K	probably benign	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Dnai7	A	G	6: 145,127,502 (GRCm39)	V469A	probably benign	Het
Efcab7	G	A	4: 99,735,372 (GRCm39)	R132H	probably benign	Het
Elovl4	T	C	9: 83,662,817 (GRCm39)	T239A	probably benign	Het
Fank1	A	G	7: 133,481,621 (GRCm39)	D240G	probably damaging	Het
Fbln5	T	A	12: 101,723,703 (GRCm39)	M346L	possibly damaging	Het
Fbxl21	T	C	13: 56,680,136 (GRCm39)	F174L	probably benign	Het
Gns	A	G	10: 121,216,090 (GRCm39)	D279G	probably benign	Het
Hmcn1	A	G	1: 150,555,265 (GRCm39)	V2502A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Large2	A	G	2: 92,205,088 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,628,118 (GRCm39)	I155F	probably damaging	Het
Morc2b	T	C	17: 33,357,353 (GRCm39)	I140V	probably benign	Het
Mrgprb5	G	A	7: 47,817,796 (GRCm39)	S313L	probably benign	Het
Nectin4	A	T	1: 171,211,273 (GRCm39)	T266S	probably benign	Het
Nsd1	C	T	13: 55,395,159 (GRCm39)	A1023V	possibly damaging	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Paqr8	A	G	1: 21,005,332 (GRCm39)	H162R	possibly damaging	Het
Pclo	G	A	5: 14,726,937 (GRCm39)		probably benign	Het
Phactr4	T	C	4: 132,098,293 (GRCm39)	D325G	probably damaging	Het
Plcg2	A	T	8: 118,361,532 (GRCm39)	E1255V	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Polr3b	A	T	10: 84,503,280 (GRCm39)	Q399L	probably benign	Het
Ppp1r35	G	A	5: 137,778,286 (GRCm39)		probably benign	Het
Psd3	A	T	8: 68,166,377 (GRCm39)	D919E	probably benign	Het
Ptgs2	A	G	1: 149,978,481 (GRCm39)	T198A	possibly damaging	Het
Ptpn14	T	C	1: 189,564,997 (GRCm39)		probably null	Het
Ptprk	A	G	10: 28,461,582 (GRCm39)	Y39C	probably damaging	Het
R3hdm4	A	G	10: 79,749,175 (GRCm39)	Y75H	probably benign	Het
Rsph4a	A	G	10: 33,785,379 (GRCm39)	Y430C	probably damaging	Het
Samd12	C	T	15: 53,723,669 (GRCm39)	C8Y	probably damaging	Het
Sema3e	A	C	5: 14,276,662 (GRCm39)	L314F	probably damaging	Het
Sis	A	G	3: 72,857,089 (GRCm39)	F401L	probably damaging	Het
Smoc1	T	A	12: 81,151,474 (GRCm39)	S64T	probably damaging	Het
Socs5	T	A	17: 87,441,769 (GRCm39)	H236Q	probably damaging	Het
Spaca1	C	A	4: 34,049,863 (GRCm39)	R45L	possibly damaging	Het
Spag6	A	G	2: 18,750,324 (GRCm39)	K457E	probably benign	Het
Stat2	T	A	10: 128,116,934 (GRCm39)		probably null	Het
Tcp11l2	A	G	10: 84,449,524 (GRCm39)	I496M	probably damaging	Het
Ttll4	A	G	1: 74,725,535 (GRCm39)	I648V	possibly damaging	Het
Vmn2r67	T	C	7: 84,801,453 (GRCm39)	Y161C	probably damaging	Het
Wnt5b	A	T	6: 119,410,813 (GRCm39)	V171E	probably damaging	Het
Zfp236	T	C	18: 82,648,219 (GRCm39)	K933E	probably damaging	Het
Zfp236	T	C	18: 82,676,198 (GRCm39)	E373G	probably damaging	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		probably benign	Het

Other mutations in Zfp617

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Zfp617	APN	8	72,686,386 (GRCm39)	nonsense	probably null
R2116:Zfp617	UTSW	8	72,686,009 (GRCm39)	missense	probably benign	0.05
R3840:Zfp617	UTSW	8	72,685,961 (GRCm39)	missense	probably damaging	1.00
R3841:Zfp617	UTSW	8	72,685,961 (GRCm39)	missense	probably damaging	1.00
R4587:Zfp617	UTSW	8	72,683,003 (GRCm39)	missense	probably damaging	0.98
R4691:Zfp617	UTSW	8	72,686,659 (GRCm39)	missense	probably benign	0.13
R5783:Zfp617	UTSW	8	72,686,308 (GRCm39)	missense	probably damaging	1.00
R6046:Zfp617	UTSW	8	72,687,257 (GRCm39)	missense	probably damaging	1.00
R6197:Zfp617	UTSW	8	72,687,098 (GRCm39)	missense	probably benign	0.01
R6403:Zfp617	UTSW	8	72,683,015 (GRCm39)	missense	probably benign	0.26
R6890:Zfp617	UTSW	8	72,686,010 (GRCm39)	missense	probably benign	0.35
R7124:Zfp617	UTSW	8	72,686,384 (GRCm39)	missense	probably damaging	1.00
R7582:Zfp617	UTSW	8	72,685,864 (GRCm39)	missense	probably benign	0.01
R7747:Zfp617	UTSW	8	72,682,033 (GRCm39)	splice site	probably null
R8907:Zfp617	UTSW	8	72,686,927 (GRCm39)	missense	probably damaging	1.00
R9666:Zfp617	UTSW	8	72,686,539 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCGAGCACATGAAAGAAGTCACA -3'
(R):5'- CATGCCTTCGAAGAGAACTGGA -3'

Sequencing Primer
(F):5'- GCATTGTGGGAAAGCATTCACTC -3'
(R):5'- CTGGACAAAGTGAAGGCTTTCCC -3'

Posted On

2016-07-06