Mutagenetix > Incidental Mutation

Incidental Mutation 'R3955:Zfp865'

310645

Institutional Source

Beutler Lab

Gene Symbol

Zfp865

Ensembl Gene

ENSMUSG00000116184

Gene Name

zinc finger protein 865

Synonyms

6430526N21Rik

MMRRC Submission

040832-MU

Accession Numbers

Essential gene?

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

Stock #

R3955 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

5023375-5036225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5035013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 999 (D999E)

Ref Sequence

ENSEMBL: ENSMUSP00000075601 (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: D999E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
AA Change: D999E

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 benign
Transcript: ENSMUST00000085427

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405

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

0.1543

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,834 (GRCm39)	T1008A	probably benign	Het
Abcc5	G	C	16: 20,224,293 (GRCm39)	H97D	probably damaging	Het
Acbd7	T	C	2: 3,337,250 (GRCm39)	S2P	probably benign	Het
Acta2	G	T	19: 34,229,126 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ajm1	G	T	2: 25,467,583 (GRCm39)	S776*	probably null	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cd69	A	T	6: 129,245,343 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dscc1	T	C	15: 54,946,949 (GRCm39)	T259A	probably benign	Het
Dsg4	G	A	18: 20,582,432 (GRCm39)		probably null	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Insyn1	A	T	9: 58,406,906 (GRCm39)	D272V	probably damaging	Het
Krt20	G	A	11: 99,323,037 (GRCm39)	Q262*	probably null	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lmod2	G	T	6: 24,603,870 (GRCm39)	V282L	probably benign	Het
Lrrc49	A	G	9: 60,578,642 (GRCm39)	I228T	probably damaging	Het
Matn1	G	A	4: 130,678,726 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Nmt2	A	G	2: 3,313,535 (GRCm39)	D132G	probably benign	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Obscn	G	A	11: 58,927,594 (GRCm39)	S6118F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or1j21	T	A	2: 36,683,565 (GRCm39)	L106M	probably benign	Het
Or4c12	T	A	2: 89,774,172 (GRCm39)	M96L	possibly damaging	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qrfprl	A	T	6: 65,430,092 (GRCm39)	I263L	possibly damaging	Het
Rab3gap1	A	G	1: 127,862,254 (GRCm39)	Q675R	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Sergef	T	A	7: 46,268,176 (GRCm39)	E210V	possibly damaging	Het
Sik3	C	A	9: 46,109,891 (GRCm39)	N541K	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tbc1d14	G	A	5: 36,700,559 (GRCm39)	R270*	probably null	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdp2	C	T	13: 25,020,082 (GRCm39)	T123I	probably benign	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tmf1	C	A	6: 97,153,167 (GRCm39)	R302L	probably damaging	Het
Tnip3	A	T	6: 65,574,379 (GRCm39)	T137S	possibly damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zfp677	A	G	17: 21,618,079 (GRCm39)	K379E	possibly 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
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
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'- AGTCTTCTAGCCTAGCGGAG -3'
(R):5'- GCATACTGAAACACCCTGGTC -3'

Sequencing Primer
(F):5'- GGCAAGACCTTCCGCTAC -3'
(R):5'- CTGGTCAGGGATCCTTTCCG -3'

Posted On

2015-04-29