Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Zfp865'

517032

Institutional Source

Beutler Lab

Gene Symbol

Zfp865

Ensembl Gene

ENSMUSG00000116184

Gene Name

zinc finger protein 865

Synonyms

6430526N21Rik

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5023375-5036225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5032782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

Ref Sequence

ENSEMBL: ENSMUSP00000082550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062428] [ENSMUST00000076251] [ENSMUST00000076791] [ENSMUST00000085427] [ENSMUST00000207050] [ENSMUST00000208728]

AlphaFold

Q9D656

Predicted Effect

probably benign
Transcript: ENSMUST00000062428

SMART Domains

Protein: ENSMUSP00000051979
Gene: ENSMUSG00000043290

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
ZnF_C2H2	64	86	1.02e1	SMART
ZnF_C2H2	100	122	9.96e-1	SMART
ZnF_C2H2	128	150	6.67e-2	SMART
low complexity region	180	192	N/A	INTRINSIC
ZnF_C2H2	195	217	4.11e-2	SMART
ZnF_C2H2	223	245	7.26e-3	SMART
ZnF_C2H2	251	273	3.21e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000076251
AA Change: T256A

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

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
AA Change: T256A

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: T256A

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

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405
AA Change: T256A

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

noncoding transcript
Transcript: ENSMUST00000207193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207362

Predicted Effect

probably benign
Transcript: ENSMUST00000208728

Meta Mutation Damage Score

0.2954

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	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
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
R7302:Zfp865	UTSW	7	5,032,252 (GRCm39)	missense	possibly damaging	0.96
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'- CTGGAGTAGCATCAGGACTG -3'
(R):5'- TTCTTGAAGACCTTCCAGCAG -3'

Sequencing Primer
(F):5'- TAGCATCAGGACTGGGCACTC -3'
(R):5'- GCAAATGGGCCATCACCG -3'

Posted On

2018-05-21