Mutagenetix > Incidental Mutation

Incidental Mutation 'R6890:Zfp617'

537158

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

044984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R6890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72676669-72688474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72686010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 113 (H113Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120213 (fasta)

Gene Model

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

AlphaFold

Q91WM0

Predicted Effect

probably benign
Transcript: ENSMUST00000119003
AA Change: H113Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112926
Gene: ENSMUSG00000066880
AA Change: H113Q

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
AA Change: H113Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120213
Gene: ENSMUSG00000066880
AA Change: H113Q

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg3	T	C	16: 20,424,736 (GRCm39)	T270A	possibly damaging	Het
Ambp	G	C	4: 63,068,596 (GRCm39)	H140Q	probably benign	Het
Arhgef10	T	C	8: 14,978,786 (GRCm39)	C18R	probably benign	Het
Arhgef10l	A	G	4: 140,271,730 (GRCm39)	F548S	probably damaging	Het
Armh3	A	G	19: 45,948,796 (GRCm39)	Y228H	probably damaging	Het
Cdhr1	T	C	14: 36,807,602 (GRCm39)	D346G	probably damaging	Het
Col18a1	T	A	10: 76,949,318 (GRCm39)		probably benign	Het
Col1a2	T	A	6: 4,539,587 (GRCm39)	L1285Q	unknown	Het
Cspg5	T	C	9: 110,075,852 (GRCm39)	L196P	probably damaging	Het
Dusp10	T	G	1: 183,801,393 (GRCm39)	Y387D	probably damaging	Het
Epb41	A	T	4: 131,663,140 (GRCm39)	D681E	probably damaging	Het
Eps8	A	G	6: 137,489,255 (GRCm39)	V381A	probably damaging	Het
Fbxw16	A	T	9: 109,265,810 (GRCm39)	S336R	probably benign	Het
Gm49368	A	G	7: 127,680,901 (GRCm39)	R277G	probably benign	Het
Gsg1	C	T	6: 135,214,418 (GRCm39)	V320I	probably benign	Het
Iglc3	T	A	16: 18,884,258 (GRCm39)		probably benign	Het
Klc4	A	T	17: 46,942,769 (GRCm39)	N598K	probably benign	Het
Malsu1	A	G	6: 49,052,185 (GRCm39)	Y135C	probably damaging	Het
Mapkbp1	T	C	2: 119,846,283 (GRCm39)	I477T	probably damaging	Het
Mtss1	G	T	15: 58,823,508 (GRCm39)	S286R	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Niban3	T	A	8: 72,058,315 (GRCm39)	V540D	probably damaging	Het
Npepps	A	T	11: 97,158,470 (GRCm39)	C98*	probably null	Het
Nphp3	A	C	9: 103,919,153 (GRCm39)	Y1267S	probably damaging	Het
Npr3	A	G	15: 11,883,478 (GRCm39)	V317A	possibly damaging	Het
Nsun6	A	G	2: 15,053,788 (GRCm39)	I7T	probably damaging	Het
Or13p4	A	G	4: 118,546,728 (GRCm39)	V307A	possibly damaging	Het
Or51ai2	A	T	7: 103,587,066 (GRCm39)	T160S	possibly damaging	Het
Or5b121	C	T	19: 13,507,445 (GRCm39)	T180I	probably damaging	Het
Pcnx1	A	G	12: 82,018,150 (GRCm39)	H1330R	probably benign	Het
Rad17	T	C	13: 100,773,592 (GRCm39)	I201V	probably benign	Het
Slc26a4	G	A	12: 31,599,950 (GRCm39)	T126M	possibly damaging	Het
Slitrk6	A	T	14: 110,988,528 (GRCm39)	L393*	probably null	Het
Snx2	A	G	18: 53,345,951 (GRCm39)	H378R	probably damaging	Het
Tex21	A	G	12: 76,286,229 (GRCm39)		probably null	Het
Trio	A	T	15: 27,919,374 (GRCm39)		probably benign	Het
Vpreb1b	T	C	16: 17,798,820 (GRCm39)	I102T	probably damaging	Het
Zgpat	T	A	2: 181,020,304 (GRCm39)	I237N	probably damaging	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
R5264:Zfp617	UTSW	8	72,686,885 (GRCm39)	missense	probably damaging	0.98
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
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'- CACTGCTTTGACTAGTGGTATTTAAGC -3'
(R):5'- TACAGGCATAGGGTTTCTCTTG -3'

Sequencing Primer
(F):5'- TTAAGCTGTCTTATTGAGTCTTCAC -3'
(R):5'- CTCTTGTGTGTAAATTTGTTCATGC -3'

Posted On

2018-10-18