Mutagenetix > Incidental Mutation

Incidental Mutation 'R2852:Zfp653'

252319

Institutional Source

Beutler Lab

Gene Symbol

Zfp653

Ensembl Gene

ENSMUSG00000038895

Gene Name

zinc finger protein 653

Synonyms

E430039K05Rik

MMRRC Submission

040445-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

R2852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21966707-21982672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21968862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 426 (D426E)

Ref Sequence

ENSEMBL: ENSMUSP00000045895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043922] [ENSMUST00000179605]

AlphaFold

Q6YND2

Predicted Effect

probably benign
Transcript: ENSMUST00000043922
AA Change: D426E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045895
Gene: ENSMUSG00000038895
AA Change: D426E

Domain	Start	End	E-Value	Type
AT_hook	29	41	2.28e0	SMART
low complexity region	105	116	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	209	232	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
ZnF_C2H2	467	492	4.11e-2	SMART
ZnF_C2H2	498	522	4.47e-3	SMART
ZnF_C2H2	528	550	4.87e-4	SMART
ZnF_C2H2	556	578	2.99e-4	SMART
ZnF_C2H2	586	609	1.31e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179605
AA Change: D434E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137064
Gene: ENSMUSG00000038895
AA Change: D434E

Domain	Start	End	E-Value	Type
AT_hook	29	41	2.28e0	SMART
low complexity region	105	116	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	209	232	N/A	INTRINSIC
low complexity region	451	464	N/A	INTRINSIC
ZnF_C2H2	475	500	4.11e-2	SMART
ZnF_C2H2	506	530	4.47e-3	SMART
ZnF_C2H2	536	558	4.87e-4	SMART
ZnF_C2H2	564	586	2.99e-4	SMART
ZnF_C2H2	594	617	1.31e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216916

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Cblc	A	G	7: 19,514,889 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,776,017 (GRCm39)	Y48C	probably damaging	Het
Chrng	A	G	1: 87,134,428 (GRCm39)	I156M	probably benign	Het
Dennd5a	A	T	7: 109,532,878 (GRCm39)	N297K	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Egflam	A	T	15: 7,249,182 (GRCm39)	W879R	probably damaging	Het
Ehbp1l1	T	A	19: 5,766,515 (GRCm39)	D332V	probably damaging	Het
Far1	T	C	7: 113,152,944 (GRCm39)	Y351H	possibly damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Kap	T	C	6: 133,827,057 (GRCm39)	K92E	probably benign	Het
Kcnv2	T	C	19: 27,300,496 (GRCm39)	Y116H	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Krtap13	T	C	16: 88,548,524 (GRCm39)		probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mrln	T	C	10: 70,055,456 (GRCm39)	I44T	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,676,896 (GRCm39)		probably null	Het
Pah	T	A	10: 87,403,327 (GRCm39)	L131Q	probably damaging	Het
Pde6h	G	A	6: 136,940,206 (GRCm39)	C64Y	probably damaging	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Prkdc	T	C	16: 15,470,416 (GRCm39)		probably null	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Stx5a	T	C	19: 8,732,476 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Vmn2r85	T	A	10: 130,255,035 (GRCm39)	M550L	probably benign	Het
Zfp14	A	G	7: 29,738,596 (GRCm39)	Y130H	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Zfp653

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Zfp653	APN	9	21,967,079 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Zfp653	UTSW	9	21,977,053 (GRCm39)	missense	probably damaging	0.96
R1245:Zfp653	UTSW	9	21,967,718 (GRCm39)	missense	probably damaging	1.00
R1473:Zfp653	UTSW	9	21,969,516 (GRCm39)	missense	possibly damaging	0.92
R1564:Zfp653	UTSW	9	21,967,155 (GRCm39)	missense	probably damaging	1.00
R1574:Zfp653	UTSW	9	21,969,274 (GRCm39)	nonsense	probably null
R1574:Zfp653	UTSW	9	21,969,274 (GRCm39)	nonsense	probably null
R2851:Zfp653	UTSW	9	21,968,862 (GRCm39)	missense	probably benign	0.09
R2967:Zfp653	UTSW	9	21,977,026 (GRCm39)	missense	probably damaging	1.00
R4937:Zfp653	UTSW	9	21,967,074 (GRCm39)	missense	probably damaging	1.00
R5390:Zfp653	UTSW	9	21,969,099 (GRCm39)	critical splice donor site	probably null
R6135:Zfp653	UTSW	9	21,969,558 (GRCm39)	missense	probably damaging	0.97
R6798:Zfp653	UTSW	9	21,968,668 (GRCm39)	missense	probably damaging	1.00
R7146:Zfp653	UTSW	9	21,977,195 (GRCm39)	missense	probably damaging	1.00
R7258:Zfp653	UTSW	9	21,977,116 (GRCm39)	missense	probably benign	0.07
R7486:Zfp653	UTSW	9	21,967,824 (GRCm39)	missense	probably damaging	1.00
R7515:Zfp653	UTSW	9	21,982,427 (GRCm39)	missense	probably damaging	1.00
R8339:Zfp653	UTSW	9	21,969,213 (GRCm39)	missense	probably damaging	0.99
R9307:Zfp653	UTSW	9	21,969,321 (GRCm39)	missense	possibly damaging	0.94
R9491:Zfp653	UTSW	9	21,969,622 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTATGGACAGTGGAACATCTC -3'
(R):5'- AAGTGAGCTCCTTGACAGC -3'

Sequencing Primer
(F):5'- ATCACACGTGACCGCTTG -3'
(R):5'- AAGTGAGCTCCTTGACAGCCTTATC -3'

Posted On

2014-12-04