Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Zfp451'

215531

Institutional Source

Beutler Lab

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

MMRRC Submission

039951-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33761545-33814595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33777822 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 132 (K132R)

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: K349R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: K349R

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: K132R

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

SMART Domains

Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: K132R

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Cdh16	A	G	8: 104,617,963	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	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
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
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'- CGACTCCCTTCACTGATGTG -3'
(R):5'- CACTGATTGATGTTTTCAGAAGTGTGC -3'

Sequencing Primer
(F):5'- CTCCCTTCACTGATGTGGCAATAAAG -3'
(R):5'- GCAGAGAAAACTTATGCTTT -3'

Posted On

2014-07-14