Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Zfp865'

567040

Institutional Source

Beutler Lab

Gene Symbol

Zfp865

Ensembl Gene

ENSMUSG00000116184

Gene Name

zinc finger protein 865

Synonyms

6430526N21Rik

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5023375-5036225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5032252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 79 (Y79C)

Ref Sequence

ENSEMBL: ENSMUSP00000075601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076251] [ENSMUST00000076791] [ENSMUST00000085427] [ENSMUST00000207050] [ENSMUST00000208728]

AlphaFold

Q9D656

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076251
AA Change: Y79C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
AA Change: Y79C

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	120	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	220	242	1.28e-3	SMART
ZnF_C2H2	248	270	5.5e-3	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	294	324	N/A	INTRINSIC
ZnF_C2H2	350	372	8.81e-2	SMART
ZnF_C2H2	378	400	6.08e-5	SMART
ZnF_C2H2	407	429	1.79e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	478	495	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	523	542	N/A	INTRINSIC
ZnF_C2H2	546	568	4.47e-3	SMART
ZnF_C2H2	574	596	5.42e-2	SMART
ZnF_C2H2	602	624	1.72e-4	SMART
low complexity region	628	660	N/A	INTRINSIC
ZnF_C2H2	664	686	5.34e-1	SMART
ZnF_C2H2	692	714	2.82e0	SMART
low complexity region	725	745	N/A	INTRINSIC
low complexity region	750	770	N/A	INTRINSIC
low complexity region	772	788	N/A	INTRINSIC
ZnF_C2H2	791	813	1.64e-1	SMART
ZnF_C2H2	819	841	9.3e-1	SMART
ZnF_C2H2	847	869	2.95e-3	SMART
ZnF_C2H2	875	897	3.83e-2	SMART
ZnF_C2H2	903	925	2.05e-2	SMART
ZnF_C2H2	931	953	1.18e-2	SMART
ZnF_C2H2	959	981	1.36e-2	SMART
ZnF_C2H2	988	1010	5.06e-2	SMART
ZnF_C2H2	1016	1038	4.72e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076791

Predicted Effect

probably damaging
Transcript: ENSMUST00000085427
AA Change: Y79C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405
AA Change: Y79C

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	120	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	220	242	1.28e-3	SMART
ZnF_C2H2	248	270	5.5e-3	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	294	324	N/A	INTRINSIC
ZnF_C2H2	350	372	8.81e-2	SMART
ZnF_C2H2	378	400	6.08e-5	SMART
ZnF_C2H2	407	429	1.79e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	478	495	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	523	542	N/A	INTRINSIC
ZnF_C2H2	546	568	4.47e-3	SMART
ZnF_C2H2	574	596	5.42e-2	SMART
ZnF_C2H2	602	624	1.72e-4	SMART
low complexity region	628	660	N/A	INTRINSIC
ZnF_C2H2	664	686	5.34e-1	SMART
ZnF_C2H2	692	714	2.82e0	SMART
low complexity region	725	745	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207050

Predicted Effect

probably benign
Transcript: ENSMUST00000208728

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	Het

Other mutations in Zfp865

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Zfp865	APN	7	5,032,875 (GRCm39)	missense	probably benign
IGL02041:Zfp865	APN	7	5,034,372 (GRCm39)	missense	probably benign
IGL03118:Zfp865	APN	7	5,037,644 (GRCm39)	intron	probably benign
R0613:Zfp865	UTSW	7	5,032,090 (GRCm39)	missense	possibly damaging	0.86
R0879:Zfp865	UTSW	7	5,034,342 (GRCm39)	missense	probably benign
R0938:Zfp865	UTSW	7	5,034,403 (GRCm39)	missense	possibly damaging	0.96
R1448:Zfp865	UTSW	7	5,032,278 (GRCm39)	nonsense	probably null
R3955:Zfp865	UTSW	7	5,035,013 (GRCm39)	missense	probably damaging	0.96
R4841:Zfp865	UTSW	7	5,034,640 (GRCm39)	missense	probably damaging	1.00
R4842:Zfp865	UTSW	7	5,034,640 (GRCm39)	missense	probably damaging	1.00
R5044:Zfp865	UTSW	7	5,037,668 (GRCm39)	intron	probably benign
R5773:Zfp865	UTSW	7	5,037,693 (GRCm39)	intron	probably benign
R5843:Zfp865	UTSW	7	5,033,416 (GRCm39)	missense	probably benign	0.03
R5849:Zfp865	UTSW	7	5,034,086 (GRCm39)	missense	probably damaging	1.00
R6393:Zfp865	UTSW	7	5,033,065 (GRCm39)	missense	probably damaging	1.00
R6480:Zfp865	UTSW	7	5,032,782 (GRCm39)	missense	probably damaging	0.98
R6681:Zfp865	UTSW	7	5,032,450 (GRCm39)	missense	possibly damaging	0.86
R6880:Zfp865	UTSW	7	5,033,548 (GRCm39)	missense	probably damaging	1.00
R7252:Zfp865	UTSW	7	5,037,416 (GRCm39)	intron	probably benign
R7486:Zfp865	UTSW	7	5,034,259 (GRCm39)	missense	possibly damaging	0.85
R7611:Zfp865	UTSW	7	5,034,130 (GRCm39)	missense	probably damaging	0.99
R8058:Zfp865	UTSW	7	5,033,445 (GRCm39)	missense	probably benign
R8327:Zfp865	UTSW	7	5,034,058 (GRCm39)	missense	probably benign	0.08
R8728:Zfp865	UTSW	7	5,034,819 (GRCm39)	missense	probably damaging	0.99
R9650:Zfp865	UTSW	7	5,037,683 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTCCACTTCCAGAGTTACC -3'
(R):5'- GTTTCAGGTTCCCGAACAGG -3'

Sequencing Primer
(F):5'- AGAGTTACCCATTTGACTTCCTGG -3'
(R):5'- AGAGAGGTCGACTATTCCCCATTG -3'

Posted On

2019-06-26