Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Zfp865'

453770

Institutional Source

Beutler Lab

Gene Symbol

Zfp865

Ensembl Gene

ENSMUSG00000116184

Gene Name

zinc finger protein 865

Synonyms

6430526N21Rik

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

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

Stock #

R5849 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

5023375-5036225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5034086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 690 (K690N)

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: K690N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
AA Change: K690N

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: K690N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405
AA Change: K690N

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

0.1972

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	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
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
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'- AGTTGTGCGGCAAGGTCTTC -3'
(R):5'- AATGCTTGAAGCTTTGGCCG -3'

Sequencing Primer
(F):5'- GTGCATCGGCTCCAATTGC -3'
(R):5'- CATGTGGCACAGCTGAAGC -3'

Posted On

2017-02-10