Mutagenetix > Incidental Mutation

Incidental Mutation 'R6681:Zfp865'

527499

Institutional Source

Beutler Lab

Gene Symbol

Zfp865

Ensembl Gene

ENSMUSG00000116184

Gene Name

zinc finger protein 865

Synonyms

6430526N21Rik

MMRRC Submission

044800-MU

Accession Numbers

Essential gene?

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

Stock #

R6681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5023375-5036225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5032450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 145 (I145T)

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

possibly damaging
Transcript: ENSMUST00000076251
AA Change: I145T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
AA Change: I145T

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

possibly damaging
Transcript: ENSMUST00000085427
AA Change: I145T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405
AA Change: I145T

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

0.0881

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,915,447 (GRCm39)	T971S	probably damaging	Het
Catsperb	C	T	12: 101,590,994 (GRCm39)	Q1021*	probably null	Het
Ccdc62	A	G	5: 124,072,156 (GRCm39)	T62A	probably benign	Het
Cuzd1	A	G	7: 130,913,412 (GRCm39)	S402P	probably damaging	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Dennd2c	A	G	3: 103,038,977 (GRCm39)	T42A	probably benign	Het
Dnah7a	T	C	1: 53,560,385 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpp4	A	T	2: 62,178,893 (GRCm39)	F607L	probably benign	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam53a	A	G	5: 33,765,184 (GRCm39)	L174P	probably damaging	Het
Fh1	T	C	1: 175,446,690 (GRCm39)	D62G	probably null	Het
Gpatch11	T	C	17: 79,147,528 (GRCm39)	I103T	probably damaging	Het
Hmgcll1	A	T	9: 75,988,731 (GRCm39)	T169S	probably benign	Het
Kbtbd3	A	T	9: 4,330,687 (GRCm39)	I354F	probably benign	Het
Kdm5b	T	C	1: 134,541,007 (GRCm39)	F700L	possibly damaging	Het
Mamdc4	C	A	2: 25,457,756 (GRCm39)	G439V	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Mug1	C	T	6: 121,815,683 (GRCm39)	S29L	possibly damaging	Het
Myh2	G	A	11: 67,069,174 (GRCm39)	D328N	probably damaging	Het
Or10j3b	C	A	1: 173,043,973 (GRCm39)	H252N	probably damaging	Het
Or5b98	A	G	19: 12,931,823 (GRCm39)	Y290C	probably damaging	Het
Or5j1	T	C	2: 86,878,942 (GRCm39)	T213A	probably benign	Het
Or8g54	T	A	9: 39,706,710 (GRCm39)	I13N	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pira13	T	A	7: 3,825,251 (GRCm39)	M464L	probably benign	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Rest	A	G	5: 77,428,844 (GRCm39)	K421R	probably damaging	Het
Rttn	C	A	18: 89,032,735 (GRCm39)	H668N	probably damaging	Het
Scn9a	T	C	2: 66,393,686 (GRCm39)	I228V	possibly damaging	Het
Scp2	G	T	4: 107,948,513 (GRCm39)	Q155K	probably damaging	Het
Sec61a2	G	A	2: 5,881,219 (GRCm39)	R18*	probably null	Het
Serpinb8	T	A	1: 107,525,321 (GRCm39)	M41K	probably damaging	Het
Sgsm2	A	T	11: 74,756,204 (GRCm39)	W382R	probably damaging	Het
Slc26a10	G	T	10: 127,009,530 (GRCm39)	T606N	possibly damaging	Het
Slc30a6	T	C	17: 74,711,027 (GRCm39)	I40T	possibly damaging	Het
Slfn5	G	A	11: 82,847,204 (GRCm39)	E30K	possibly damaging	Het
Sorcs2	C	A	5: 36,555,154 (GRCm39)	R79L	probably benign	Het
Tmc5	G	A	7: 118,268,527 (GRCm39)	S865N	probably damaging	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Trpv5	C	G	6: 41,630,288 (GRCm39)	E601Q	probably damaging	Het
Ttc39b	A	T	4: 83,158,285 (GRCm39)		probably benign	Het
Ttll6	T	A	11: 96,029,689 (GRCm39)	C201S	probably damaging	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vmn1r45	T	A	6: 89,910,985 (GRCm39)		probably benign	Het
Zfp433	A	T	10: 81,556,722 (GRCm39)	H408L	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
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'- CAGTTTCAAACCCAAGGCGG -3'
(R):5'- CATCAGGTACTTCAGCCTTCG -3'

Sequencing Primer
(F):5'- atcCTCTTCCCAAGCCAA -3'
(R):5'- GGTACTTCAGCCTTCGGAAATAGC -3'

Posted On

2018-07-23