Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Zfp451'

578481

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33761545-33814595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33777013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 619 (V619M)

Ref Sequence

ENSEMBL: ENSMUSP00000019861 (fasta)

Gene Model

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

AlphaFold

Q8C0P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019861
AA Change: V619M

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

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: V619M

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: 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: 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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
Ank2	G	C	3: 126,943,034	T3067S	unknown	Het
Ankrd28	T	C	14: 31,778,929	N35S	probably benign	Het
Bicra	A	T	7: 15,979,135	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,837,722	E353G	possibly damaging	Het
Ccdc144b	T	A	3: 36,025,906		probably null	Het
Cdhr2	A	T	13: 54,726,739	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,760,839	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,922,860	I362T	probably benign	Het
Dchs2	A	G	3: 83,346,155		probably null	Het
Dlc1	T	A	8: 36,937,964	T224S	unknown	Het
Dmxl2	T	C	9: 54,366,632		probably null	Het
Dnajc1	A	G	2: 18,308,899	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,929,301	T24A	probably benign	Het
Eya1	T	C	1: 14,231,414	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,182,223	L292P	probably damaging	Het
Gca	G	T	2: 62,672,409	D54Y	possibly damaging	Het
Gm45861	G	A	8: 27,534,489		probably null	Het
Gm9573	T	C	17: 35,620,676	S873G	unknown	Het
Gtf2a1l	A	G	17: 88,694,138	T141A	possibly damaging	Het
Hgsnat	T	C	8: 25,957,213	N351S	probably benign	Het
Htr1f	A	T	16: 64,926,020	V303E	probably damaging	Het
Iars2	C	A	1: 185,322,866	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,185,116	Q23L	possibly damaging	Het
Il18	A	T	9: 50,565,373		probably benign	Het
Ints4	A	G	7: 97,506,128	D329G	probably benign	Het
Itsn1	T	C	16: 91,853,185	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,694,632	E672G	probably null	Het
Lhx6	A	G	2: 36,084,071	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,113,029	E2030G		Het
Macf1	T	A	4: 123,492,763	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,257,880	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,667,065	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,921,881	K159N	probably benign	Het
Mroh2b	T	A	15: 4,908,627	D243E	probably damaging	Het
Mug1	A	T	6: 121,875,440	Q829L	probably benign	Het
Nav3	A	T	10: 109,823,578	V726E	probably damaging	Het
Nfib	T	C	4: 82,353,589	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,916,932	N121S	probably damaging	Het
Olfr187	A	T	16: 59,036,016	C240*	probably null	Het
Olfr378	T	C	11: 73,425,470	D171G	probably benign	Het
Olfr691	T	A	7: 105,337,500	D72V	probably damaging	Het
Pkd1l3	A	G	8: 109,628,777	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,336,751	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,696,307	V385M	unknown	Het
Rufy1	C	T	11: 50,407,828	V379M	possibly damaging	Het
S100a5	A	G	3: 90,609,900	K26R	probably damaging	Het
Sin3a	T	C	9: 57,095,525	S234P	probably benign	Het
Sirt7	G	A	11: 120,620,792	T225I	probably benign	Het
Slc17a2	A	T	13: 23,822,418	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,350,577	M331K	probably benign	Het
Spam1	T	C	6: 24,796,908	I286T	probably damaging	Het
Syne1	T	A	10: 5,052,793	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,325,145	L427P	probably damaging	Het
Tpbg	G	A	9: 85,844,850	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,178,388	F45S	possibly damaging	Het
Zim1	A	G	7: 6,677,812	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,483,874	E165G	probably benign	Het
Zmynd11	T	A	13: 9,698,684	N154Y	probably benign	Het
Zscan12	A	T	13: 21,369,287	H427L	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	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
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
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
R8938:Zfp451	UTSW	1	33802982	intron	probably benign
R8974:Zfp451	UTSW	1	33777454	missense	probably damaging	1.00
R9036:Zfp451	UTSW	1	33776481	missense	probably damaging	1.00
RF005:Zfp451	UTSW	1	33776792	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACATAATCTATGCTGTGGTGTTCC -3'
(R):5'- ACTGAGTTTCATAGTGGGCATAG -3'

Sequencing Primer
(F):5'- AGTGACTCAGAAATTCTTCTTCCTTG -3'
(R):5'- TGGGCATAGATATTTTTATGAGATGG -3'

Posted On

2019-10-07