Mutagenetix > Incidental Mutations

Incidental Mutation 'R6154:Zfp451'

489421

Institutional Source

Beutler Lab

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

MMRRC Submission

044301-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33761545-33814595 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 33803546 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019861] [ENSMUST00000044455] [ENSMUST00000115167] [ENSMUST00000139143] [ENSMUST00000194656]

Predicted Effect

probably benign
Transcript: ENSMUST00000019861

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
coiled coil region	81	109	N/A	INTRINSIC
ZnF_C2H2	169	195	1.63e1	SMART
ZnF_C2H2	212	232	1.18e2	SMART
ZnF_C2H2	253	277	1.73e0	SMART
ZnF_C2H2	315	335	2.03e2	SMART
ZnF_C2H2	362	385	3.75e1	SMART
ZnF_C2H2	494	517	2.91e-2	SMART
ZnF_C2H2	527	550	5.4e1	SMART
low complexity region	558	577	N/A	INTRINSIC
ZnF_C2H2	604	629	1.55e1	SMART
ZnF_C2H2	634	657	2.29e0	SMART
ZnF_C2H2	665	687	1.64e-1	SMART
ZnF_C2H2	751	774	6.75e0	SMART
ZnF_C2H2	787	810	4.94e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000044455
AA Change: V85D

SMART Domains

Protein: ENSMUSP00000044372
Gene: ENSMUSG00000042197
AA Change: V85D

Domain	Start	End	E-Value	Type
low complexity region	92	98	N/A	INTRINSIC
Pfam:LAP2alpha	344	499	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115167

SMART Domains

Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
coiled coil region	81	109	N/A	INTRINSIC
ZnF_C2H2	169	195	1.63e1	SMART
ZnF_C2H2	212	232	1.18e2	SMART
ZnF_C2H2	253	277	1.73e0	SMART
ZnF_C2H2	315	335	2.03e2	SMART
ZnF_C2H2	362	385	3.75e1	SMART
ZnF_C2H2	494	517	2.91e-2	SMART
ZnF_C2H2	527	550	5.4e1	SMART
low complexity region	558	577	N/A	INTRINSIC
ZnF_C2H2	604	629	1.55e1	SMART
ZnF_C2H2	634	657	2.29e0	SMART
ZnF_C2H2	665	687	1.64e-1	SMART
ZnF_C2H2	751	774	6.75e0	SMART
ZnF_C2H2	787	810	4.94e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130376

SMART Domains

Protein: ENSMUSP00000118047
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
ZnF_C2H2	30	56	1.63e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140163

Predicted Effect

probably benign
Transcript: ENSMUST00000194656

SMART Domains

Protein: ENSMUSP00000141813
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
ZnF_C2H2	127	153	6.9e-2	SMART
ZnF_C2H2	170	190	5e-1	SMART
ZnF_C2H2	211	235	7.2e-3	SMART

Meta Mutation Damage Score

0.0925

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 107,123,349	I79L	probably benign	Het
Adam6a	C	T	12: 113,545,672	T555I	probably benign	Het
Adap1	A	G	5: 139,307,776	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Angpt1	T	C	15: 42,523,655	E101G	probably damaging	Het
Asxl2	T	C	12: 3,496,593	V459A	possibly damaging	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Camta2	G	A	11: 70,678,385	A578V	probably damaging	Het
Cdc16	A	G	8: 13,768,609	N316D	possibly damaging	Het
Chrm3	T	A	13: 9,878,440	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,291,482	T367A	probably benign	Het
Clcn7	T	C	17: 25,157,954	S654P	probably damaging	Het
Col6a3	T	A	1: 90,773,665	T2510S	unknown	Het
Crisp4	T	C	1: 18,122,788	E192G	possibly damaging	Het
Dmbt1	T	A	7: 131,109,641		probably null	Het
Dnah5	T	G	15: 28,204,031	L18R	probably benign	Het
Dnah9	T	G	11: 65,855,338	D3983A	probably benign	Het
Dock5	C	A	14: 67,859,912	V71L	probably benign	Het
Dync1h1	T	C	12: 110,617,993	V610A	probably damaging	Het
Dynlrb2	A	G	8: 116,515,689	Y86C	probably benign	Het
Ep400	T	C	5: 110,755,933	I267V	probably damaging	Het
Gaa	A	G	11: 119,278,352	Y575C	probably damaging	Het
Gm8094	T	A	14: 43,076,563	D24V	probably benign	Het
Gm884	A	G	11: 103,614,143	V2333A	probably benign	Het
Grina	T	C	15: 76,248,887	I244T	possibly damaging	Het
Haus6	A	G	4: 86,583,756	L626P	possibly damaging	Het
Hexdc	A	T	11: 121,221,271	H439L	probably benign	Het
Ifna12	A	T	4: 88,603,294	C5*	probably null	Het
Igf2bp2	G	T	16: 22,076,093	S300*	probably null	Het
Ighv6-5	T	C	12: 114,416,742	R71G	probably benign	Het
Lrrn4cl	T	C	19: 8,851,888	S77P	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mink1	T	C	11: 70,610,101	V831A	possibly damaging	Het
Mme	T	A	3: 63,300,253	I40N	probably damaging	Het
Myh2	A	G	11: 67,186,612	T858A	probably benign	Het
Ncbp3	T	A	11: 73,049,874	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,698,242	I349F	possibly damaging	Het
Nek11	A	T	9: 105,323,169	*81K	probably null	Het
Nrip1	A	G	16: 76,293,830	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,500,144	D722G	probably benign	Het
Olfr1117-ps1	T	G	2: 87,309,558	S256R	probably benign	Het
Olfr1209	A	G	2: 88,910,390	M1T	probably null	Het
Olfr152	A	G	2: 87,782,756	D72G	possibly damaging	Het
Olfr164	A	T	16: 19,286,431	I104K	probably damaging	Het
Olfr789	C	T	10: 129,487,676	T222I	probably damaging	Het
Pcdhb6	A	G	18: 37,334,913	I296V	probably benign	Het
Pcnx2	G	T	8: 125,762,813	L1681M	probably damaging	Het
Pdlim5	T	C	3: 142,277,913	R360G	possibly damaging	Het
Peli2	C	T	14: 48,250,594	Q81*	probably null	Het
Pitpnb	C	T	5: 111,338,397	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,604	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,495,028	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Sbno1	T	C	5: 124,378,479	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,412,017	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,626,505	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981	R89S	probably benign	Het
Slc7a12	A	G	3: 14,481,034	R80G	probably damaging	Het
Smok3c	T	A	5: 138,064,485	M78K	probably benign	Het
Stk10	T	A	11: 32,603,654		probably null	Het
Tada2b	A	G	5: 36,476,664	V190A	probably damaging	Het
Tnk1	C	T	11: 69,856,954	V41I	probably damaging	Het
Tpr	T	A	1: 150,423,816	V1146E	probably benign	Het
Trappc9	T	C	15: 73,058,081	D142G	probably benign	Het
Trpm3	T	C	19: 22,987,814	Y1558H	probably damaging	Het
Unc5c	C	A	3: 141,678,153	S97R	probably damaging	Het
Vmn1r172	T	C	7: 23,660,158	I156T	probably damaging	Het
Vmn2r51	A	T	7: 10,087,994	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,468,340	E117D	probably damaging	Het
Zfp534	C	A	4: 147,674,688	R508I	probably benign	Het
Zp3r	C	T	1: 130,598,905	C187Y	probably damaging	Het

Other mutations in Zfp451

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Zfp451	APN	1	33786540	intron	probably benign
IGL00423:Zfp451	APN	1	33777579	missense	probably benign	0.44
IGL00925:Zfp451	APN	1	33776261	unclassified	probably benign
IGL00971:Zfp451	APN	1	33783153	missense	probably benign	0.01
IGL01521:Zfp451	APN	1	33777331	unclassified	probably null
IGL01672:Zfp451	APN	1	33762166	missense	probably benign	0.33
IGL01826:Zfp451	APN	1	33782162	missense	probably damaging	1.00
IGL02298:Zfp451	APN	1	33772921	missense	probably damaging	0.98
IGL02343:Zfp451	APN	1	33776493	missense	probably damaging	1.00
IGL03150:Zfp451	APN	1	33777454	missense	probably damaging	1.00
IGL03257:Zfp451	APN	1	33777048	missense	possibly damaging	0.90
R0006:Zfp451	UTSW	1	33802780	intron	probably benign
R0068:Zfp451	UTSW	1	33777625	missense	probably damaging	1.00
R0068:Zfp451	UTSW	1	33777625	missense	probably damaging	1.00
R0358:Zfp451	UTSW	1	33777729	missense	probably damaging	1.00
R0441:Zfp451	UTSW	1	33777045	missense	probably damaging	0.96
R0483:Zfp451	UTSW	1	33770910	splice site	probably benign
R0745:Zfp451	UTSW	1	33770848	nonsense	probably null
R1469:Zfp451	UTSW	1	33769813	missense	possibly damaging	0.93
R1469:Zfp451	UTSW	1	33769813	missense	possibly damaging	0.93
R1486:Zfp451	UTSW	1	33777727	missense	probably damaging	0.99
R1774:Zfp451	UTSW	1	33813768	missense	probably benign	0.02
R1929:Zfp451	UTSW	1	33782193	missense	probably damaging	1.00
R1929:Zfp451	UTSW	1	33783856	missense	probably benign	0.12
R1933:Zfp451	UTSW	1	33777822	missense	probably damaging	1.00
R2108:Zfp451	UTSW	1	33779167	missense	possibly damaging	0.93
R2225:Zfp451	UTSW	1	33770907	splice site	probably benign
R2372:Zfp451	UTSW	1	33780052	splice site	probably null
R3923:Zfp451	UTSW	1	33779045	missense	probably null	1.00
R4295:Zfp451	UTSW	1	33777755	missense	probably damaging	0.99
R4409:Zfp451	UTSW	1	33777413	missense	probably damaging	1.00
R4617:Zfp451	UTSW	1	33802671	intron	probably benign
R4757:Zfp451	UTSW	1	33765858	missense	probably damaging	0.98
R4777:Zfp451	UTSW	1	33782105	missense	possibly damaging	0.80
R4906:Zfp451	UTSW	1	33805384	missense	probably damaging	1.00
R4964:Zfp451	UTSW	1	33777861	missense	probably damaging	1.00
R5128:Zfp451	UTSW	1	33802933	intron	probably benign
R5129:Zfp451	UTSW	1	33802933	intron	probably benign
R5383:Zfp451	UTSW	1	33813806	missense	probably damaging	1.00
R5446:Zfp451	UTSW	1	33777528	missense	probably damaging	1.00
R6228:Zfp451	UTSW	1	33803138	intron	probably benign
R6272:Zfp451	UTSW	1	33803244	intron	probably benign
R6296:Zfp451	UTSW	1	33769817	nonsense	probably null
R6321:Zfp451	UTSW	1	33813735	missense	probably damaging	1.00
R6445:Zfp451	UTSW	1	33773011	missense	probably damaging	1.00
R6528:Zfp451	UTSW	1	33777781	missense	probably damaging	1.00
R6562:Zfp451	UTSW	1	33762179	missense	possibly damaging	0.90
R6739:Zfp451	UTSW	1	33803594	intron	probably benign
R6911:Zfp451	UTSW	1	33803456	intron	probably benign
R7042:Zfp451	UTSW	1	33777393	missense	probably damaging	1.00
R7044:Zfp451	UTSW	1	33802167	intron	probably benign
R7071:Zfp451	UTSW	1	33776744	missense	possibly damaging	0.96
R7082:Zfp451	UTSW	1	33772891	critical splice donor site	probably null
R7123:Zfp451	UTSW	1	33776869	missense	probably damaging	1.00
R7149:Zfp451	UTSW	1	33777324	missense	probably damaging	1.00
R7179:Zfp451	UTSW	1	33802570	missense	unknown
R7185:Zfp451	UTSW	1	33769893	missense	probably damaging	1.00
R7228:Zfp451	UTSW	1	33803394	missense	unknown
R7402:Zfp451	UTSW	1	33813762	missense	probably benign
R7462:Zfp451	UTSW	1	33777013	missense	probably damaging	1.00
R7488:Zfp451	UTSW	1	33779140	missense	probably benign	0.22
R7507:Zfp451	UTSW	1	33769759	missense	probably damaging	1.00
R7774:Zfp451	UTSW	1	33805393	missense	probably benign	0.20
RF005:Zfp451	UTSW	1	33776792	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCAGAGTCTGATTACTTTGTG -3'
(R):5'- TATCTTTGGCCGGCCTATAGTG -3'

Sequencing Primer
(F):5'- AGAGTCTGATTACTTTGTGGTTTAAG -3'
(R):5'- GCCGGCCTATAGTGGATTG -3'

Posted On

2017-10-10