Mutagenetix > Incidental Mutations

Incidental Mutation 'R6911:Zfp451'

538998

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 #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33761545-33814595 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 33803456 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: N115S

SMART Domains

Protein: ENSMUSP00000044372
Gene: ENSMUSG00000042197
AA Change: N115S

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

probably benign
Transcript: ENSMUST00000139143

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

0.0681

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,268,353	I459N	probably damaging	Het
4930407I10Rik	T	A	15: 82,063,867	M655K	probably benign	Het
Amt	G	T	9: 108,301,229		probably null	Het
Anapc7	A	T	5: 122,440,280	K443*	probably null	Het
Apcs	A	G	1: 172,894,185	V198A	probably benign	Het
Atp2a1	A	G	7: 126,456,836	V271A	probably damaging	Het
Cdh20	T	C	1: 104,984,686	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,656,215	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 57,892,014	D101G	probably damaging	Het
Coq7	T	A	7: 118,510,162	H221L	unknown	Het
Depdc5	A	T	5: 32,924,192	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,247,102	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268	H298N	probably benign	Het
Fam162a	A	G	16: 36,046,377		probably null	Het
Fancd2	A	G	6: 113,548,385	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,340,290	Q147K	probably damaging	Het
Ganab	T	A	19: 8,907,788		probably null	Het
Gfm1	T	C	3: 67,451,303	V409A	possibly damaging	Het
Gm5346	A	T	8: 43,625,109	F693I	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grid1	A	T	14: 34,820,228	M1L	probably benign	Het
Helz	C	T	11: 107,619,225	T558I	probably benign	Het
Htra4	A	G	8: 25,025,705	V439A	probably damaging	Het
Kctd17	A	G	15: 78,434,006	E95G	probably damaging	Het
Kif18b	T	C	11: 102,916,380	D43G	probably damaging	Het
Lrpprc	G	A	17: 84,756,283	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,114,807	C311*	probably null	Het
Mcoln2	C	T	3: 146,192,256	T44I	probably damaging	Het
Med13l	A	G	5: 118,755,658	T2010A	possibly damaging	Het
Med23	C	T	10: 24,902,181	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Myh13	C	T	11: 67,354,927	Q1095*	probably null	Het
Nktr	C	A	9: 121,754,326	Y93*	probably null	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Ntrk2	A	T	13: 58,859,215	E210D	probably damaging	Het
Nup210	G	T	6: 91,030,130	A568E	probably damaging	Het
Olfr1111	T	A	2: 87,149,767	K298I	probably damaging	Het
Olfr1279	A	G	2: 111,306,273	T23A	probably benign	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr1393	A	G	11: 49,280,807	I220V	probably benign	Het
Pdlim5	T	C	3: 142,304,315	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per1	C	T	11: 69,103,257	T443M	probably damaging	Het
Plxna1	A	G	6: 89,320,974	V1774A	probably damaging	Het
Poteg	A	G	8: 27,450,298	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,184	T582A	probably benign	Het
Psma5	A	G	3: 108,265,148	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	T	C	13: 11,827,559	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,393,264	I328T	possibly damaging	Het
Slc12a2	G	T	18: 57,919,469	V787L	probably benign	Het
St14	C	T	9: 31,106,785	R177Q	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,644,161		probably null	Het
Ttf1	A	G	2: 29,064,851	R76G	probably benign	Het
Ube4a	C	T	9: 44,942,758	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,291,130	V792A	probably damaging	Het
Wdr11	T	C	7: 129,607,095	I430T	probably benign	Het
Xkr4	T	C	1: 3,671,321	K10E	possibly 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
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
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
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
R7918:Zfp451	UTSW	1	33772979	missense	probably damaging	1.00
RF005:Zfp451	UTSW	1	33776792	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGACATCTCAGCCACTTGTGTC -3'
(R):5'- TGGATAACCCAGAGAATGCCTG -3'

Sequencing Primer
(F):5'- TCCACTCTGTGAAGCTGAAG -3'
(R):5'- CTGAATCTAAAGTGCCATCCTCTGAG -3'

Posted On

2018-11-06