Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Zfp51'

438052

Institutional Source

Beutler Lab

Gene Symbol

Zfp51

Ensembl Gene

ENSMUSG00000023892

Gene Name

zinc finger protein 51

Synonyms

zfec12, Zfp-51

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21670636-21685849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21684354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 323 (E323G)

Ref Sequence

ENSEMBL: ENSMUSP00000045684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039577]

AlphaFold

Q3U4L8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039577
AA Change: E323G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: E323G

Domain	Start	End	E-Value	Type
KRAB	43	103	1.71e-22	SMART
ZnF_C2H2	214	236	2.36e-2	SMART
ZnF_C2H2	242	264	8.94e-3	SMART
ZnF_C2H2	270	292	7.9e-4	SMART
ZnF_C2H2	298	320	3.44e-4	SMART
ZnF_C2H2	326	348	7.15e-2	SMART
ZnF_C2H2	354	376	4.54e-4	SMART
ZnF_C2H2	382	404	3.44e-4	SMART
ZnF_C2H2	410	432	9.88e-5	SMART
ZnF_C2H2	438	460	3.16e-3	SMART
ZnF_C2H2	466	488	1.58e-3	SMART
ZnF_C2H2	494	517	2.57e-3	SMART
ZnF_C2H2	523	545	3.63e-3	SMART
ZnF_C2H2	551	573	1.4e-4	SMART
ZnF_C2H2	579	601	4.17e-3	SMART
ZnF_C2H2	607	629	2.79e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	9.08e-4	SMART
ZnF_C2H2	691	713	8.47e-4	SMART
ZnF_C2H2	719	741	1.36e-2	SMART
ZnF_C2H2	747	769	6.82e1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Nop58	T	A	1: 59,749,672 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het

Other mutations in Zfp51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Zfp51	APN	17	21,683,714 (GRCm39)	missense	probably benign	0.11
IGL00971:Zfp51	APN	17	21,683,844 (GRCm39)	missense	probably benign	0.03
IGL02002:Zfp51	APN	17	21,684,221 (GRCm39)	missense	probably damaging	0.98
IGL02268:Zfp51	APN	17	21,683,681 (GRCm39)	nonsense	probably null
IGL03249:Zfp51	APN	17	21,683,701 (GRCm39)	missense	probably damaging	1.00
R1569:Zfp51	UTSW	17	21,676,642 (GRCm39)	missense	probably benign	0.01
R1853:Zfp51	UTSW	17	21,684,585 (GRCm39)	missense	probably damaging	1.00
R1989:Zfp51	UTSW	17	21,676,582 (GRCm39)	missense	possibly damaging	0.90
R2285:Zfp51	UTSW	17	21,684,137 (GRCm39)	missense	probably damaging	1.00
R2407:Zfp51	UTSW	17	21,684,093 (GRCm39)	missense	probably damaging	0.98
R2890:Zfp51	UTSW	17	21,684,118 (GRCm39)	missense	probably damaging	1.00
R3918:Zfp51	UTSW	17	21,683,702 (GRCm39)	missense	probably benign
R4529:Zfp51	UTSW	17	21,684,998 (GRCm39)	missense	probably damaging	1.00
R4587:Zfp51	UTSW	17	21,685,178 (GRCm39)	nonsense	probably null
R4866:Zfp51	UTSW	17	21,682,012 (GRCm39)	missense	possibly damaging	0.61
R4872:Zfp51	UTSW	17	21,684,933 (GRCm39)	missense	probably benign	0.26
R4961:Zfp51	UTSW	17	21,676,615 (GRCm39)	missense	probably benign	0.01
R5392:Zfp51	UTSW	17	21,685,584 (GRCm39)	missense	possibly damaging	0.60
R7109:Zfp51	UTSW	17	21,683,831 (GRCm39)	missense	possibly damaging	0.80
R7129:Zfp51	UTSW	17	21,681,971 (GRCm39)	missense	probably damaging	1.00
R7269:Zfp51	UTSW	17	21,683,960 (GRCm39)	missense	probably benign	0.09
R7303:Zfp51	UTSW	17	21,684,058 (GRCm39)	missense	probably benign	0.24
R7514:Zfp51	UTSW	17	21,683,762 (GRCm39)	missense	probably benign	0.37
R7665:Zfp51	UTSW	17	21,683,843 (GRCm39)	missense	probably benign	0.00
R8073:Zfp51	UTSW	17	21,684,294 (GRCm39)	missense	probably damaging	1.00
R8177:Zfp51	UTSW	17	21,684,129 (GRCm39)	missense	probably benign	0.05
R8560:Zfp51	UTSW	17	21,685,635 (GRCm39)	missense	probably benign	0.00
R8877:Zfp51	UTSW	17	21,682,017 (GRCm39)	missense	probably damaging	1.00
R9032:Zfp51	UTSW	17	21,684,660 (GRCm39)	missense	probably damaging	1.00
R9085:Zfp51	UTSW	17	21,684,660 (GRCm39)	missense	probably damaging	1.00
R9307:Zfp51	UTSW	17	21,684,733 (GRCm39)	missense	probably benign	0.30
R9489:Zfp51	UTSW	17	21,684,291 (GRCm39)	missense	probably damaging	1.00
R9605:Zfp51	UTSW	17	21,684,291 (GRCm39)	missense	probably damaging	1.00
R9686:Zfp51	UTSW	17	21,683,871 (GRCm39)	missense	probably damaging	1.00
R9735:Zfp51	UTSW	17	21,685,413 (GRCm39)	nonsense	probably null
R9795:Zfp51	UTSW	17	21,682,051 (GRCm39)	critical splice donor site	probably null
X0062:Zfp51	UTSW	17	21,685,257 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAACCAACAGCCTACATT -3'
(R):5'- CAGTGTGGATTCTGTAATGCCTT -3'

Sequencing Primer
(F):5'- GCAGTGTCTGTGACAAATCC -3'
(R):5'- AAAGGACTTACCACATTCTTTGC -3'

Posted On

2016-10-26