Mutagenetix > Incidental Mutations

Incidental Mutation 'R6528:Zfp451'

522039

Institutional Source

Beutler Lab

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33761545-33814595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33777781 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 146 (Y146H)

Ref Sequence

ENSEMBL: ENSMUSP00000110821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019861] [ENSMUST00000115167] [ENSMUST00000139143] [ENSMUST00000151055] [ENSMUST00000194656]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019861
AA Change: Y363H

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

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: Y363H

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

probably damaging
Transcript: ENSMUST00000115167
AA Change: Y146H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: Y146H

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

probably benign
Transcript: ENSMUST00000151055

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 55,872,561	R286H	possibly damaging	Het
Arhgap29	T	A	3: 122,014,702	N1176K	probably benign	Het
C87977	A	G	4: 144,208,811	V120A	probably damaging	Het
Cacfd1	T	G	2: 27,018,939	D97E	probably benign	Het
Ccnj	C	A	19: 40,832,085		probably null	Het
Chad	A	G	11: 94,565,624	Y176C	probably damaging	Het
Chd5	T	C	4: 152,356,676	L191P	probably damaging	Het
Cmtm1	T	C	8: 104,309,295	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,440,431	A449T	probably damaging	Het
Eml5	T	C	12: 98,824,637	E1334G	probably benign	Het
Endou	C	T	15: 97,719,629	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,000,356	H449N	probably benign	Het
Fkbp15	A	G	4: 62,332,270	I363T	probably damaging	Het
Gm12887	C	A	4: 121,615,637	G103C	probably damaging	Het
Gm14410	T	A	2: 177,193,508	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Irgm2	C	T	11: 58,220,052	P202S	probably benign	Het
Khsrp	G	A	17: 57,023,543	T551I	probably damaging	Het
Lpin2	T	A	17: 71,244,005	I720N	probably damaging	Het
Lypd8	G	A	11: 58,384,613	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780	L1952F	probably damaging	Het
Med13	G	A	11: 86,298,954	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,142,881	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,513,049	R654C	probably damaging	Het
Olfr1082	T	C	2: 86,594,465	D121G	probably damaging	Het
Olfr512	T	C	7: 108,713,431	L14P	probably damaging	Het
Olfr530	G	T	7: 140,373,441	H56Q	possibly damaging	Het
Olfr535	A	G	7: 140,493,051	M138V	probably damaging	Het
Pcdhb6	A	G	18: 37,334,503	D159G	probably damaging	Het
Plec	T	C	15: 76,174,430	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,989,321	D236N	probably damaging	Het
Pnma1	T	A	12: 84,147,423	I169F	probably benign	Het
Ppl	T	A	16: 5,087,616	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,688,338	M252L	probably benign	Het
Prickle4	T	A	17: 47,689,333	R246*	probably null	Het
Rad50	G	A	11: 53,652,282	T1235I	probably damaging	Het
Ranbp10	T	C	8: 105,779,956	N244S	probably damaging	Het
Robo4	T	C	9: 37,404,368	S306P	possibly damaging	Het
Shox2	C	A	3: 66,981,285	R91L	probably benign	Het
Tbx5	A	G	5: 119,883,111	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,178,999	N74S	probably benign	Het
Tgif1	G	A	17: 70,846,560		probably benign	Het
Tmem128	T	A	5: 38,266,499		probably null	Het
Trio	A	G	15: 27,805,870	S511P	probably damaging	Het
Trps1	A	G	15: 50,822,427	I114T	probably benign	Het
Ttll8	G	T	15: 88,914,238	Q765K	probably benign	Het
Usp17ld	A	T	7: 103,250,755	D323E	probably damaging	Het
Vmn1r232	G	A	17: 20,914,047	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,490,685	R87S	probably benign	Het
Vps26b	C	G	9: 27,010,466	E254D	probably benign	Het
Vps8	C	A	16: 21,554,125	Y113*	probably null	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Xcr1	A	T	9: 123,855,983	I238N	probably damaging	Het
Zar1l	T	A	5: 150,507,130	E272V	probably damaging	Het
Zfp54	G	T	17: 21,433,474	E77*	probably null	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	splice site	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
R6154:Zfp451	UTSW	1	33803546	intron	probably benign
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
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
R7835:Zfp451	UTSW	1	33772979	missense	probably damaging	1.00
R7979:Zfp451	UTSW	1	33782138	missense	probably benign	0.01
R8123:Zfp451	UTSW	1	33762167	missense	possibly damaging	0.92
R8137:Zfp451	UTSW	1	33782075	missense	possibly damaging	0.57
RF005:Zfp451	UTSW	1	33776792	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGACTCTTTAACGGACAGAATCC -3'
(R):5'- TGCTTCAAGGCCTCTATATCAAC -3'

Sequencing Primer
(F):5'- GGACAGAATCCGTTTAAGTGATG -3'
(R):5'- TGGACCTGTTGCTATAGC -3'

Posted On

2018-06-06