Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Zfp51'

705299

Institutional Source

Beutler Lab

Gene Symbol

Zfp51

Ensembl Gene

ENSMUSG00000023892

Gene Name

zinc finger protein 51

Synonyms

zfec12, Zfp-51

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R9307 (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 21684733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 449 (H449Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045684 (fasta)

Gene Model

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

AlphaFold

Q3U4L8

Predicted Effect

probably benign
Transcript: ENSMUST00000039577
AA Change: H449Q

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045684
Gene: ENSMUSG00000023892
AA Change: H449Q

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: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998 (GRCm39)	L583F	probably damaging	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly 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
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
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'- ATTATCCCAATTTCAGGACACATCAG -3'
(R):5'- GATATGCACGCTGGGTAAAGGAT -3'

Sequencing Primer
(F):5'- GGCAGGGAATTTCACCAGCTTTC -3'
(R):5'- CACGCTGGGTAAAGGATTTGTCAC -3'

Posted On

2022-03-25