Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Zfp51'

661013

Institutional Source

Beutler Lab

Gene Symbol

Zfp51

Ensembl Gene

ENSMUSG00000023892

Gene Name

zinc finger protein 51

Synonyms

zfec12, Zfp-51

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

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

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21670636-21685849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21685635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 750 (M750K)

Ref Sequence

ENSEMBL: ENSMUSP00000045684 (fasta)

Gene Model

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

AlphaFold

Q3U4L8

Predicted Effect

probably benign
Transcript: ENSMUST00000039577
AA Change: M750K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: M750K

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Il17ra	C	A	6: 120,459,226 (GRCm39)	D792E	possibly damaging	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Or5b109	T	C	19: 13,211,656 (GRCm39)	L14P	possibly damaging	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,089,151 (GRCm39)	Q171*	probably null	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,361,514 (GRCm39)	N245K	probably damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	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
R5611:Zfp51	UTSW	17	21,684,354 (GRCm39)	missense	probably damaging	1.00
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
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'- GGTGAGAAACCTTACAAATGTATGG -3'
(R):5'- GAGAGAAGCTTTTGACATAATAGGC -3'

Sequencing Primer
(F):5'- GGAATGTGACAAGTCCTTTACTC -3'
(R):5'- GCAGATAGAATACTGGATAAATAC -3'

Posted On

2021-03-08