Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Zfp451'

547190

Institutional Source

Beutler Lab

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33800626-33853676 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 33841248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141813 (fasta)

Gene Model

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

AlphaFold

Q8C0P7

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: Y545N

SMART Domains

Protein: ENSMUSP00000044372
Gene: ENSMUSG00000042197
AA Change: Y545N

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

0.0976

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,815,260 (GRCm39)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,650,634 (GRCm39)	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,881,134 (GRCm39)	K1066*	probably null	Het
Ckap5	T	C	2: 91,407,946 (GRCm39)	I824T	probably benign	Het
Cracdl	C	T	1: 37,651,361 (GRCm39)	D1169N	possibly damaging	Het
Ctbp2	T	C	7: 132,616,831 (GRCm39)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,520,493 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,301,634 (GRCm39)		probably null	Het
Fat4	G	C	3: 39,064,959 (GRCm39)	A4972P	probably benign	Het
Fat4	C	T	3: 39,064,960 (GRCm39)	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,993,647 (GRCm39)	M1K	probably null	Het
Glyat	T	C	19: 12,627,629 (GRCm39)	S75P	probably benign	Het
Gm3543	T	A	14: 41,802,023 (GRCm39)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,282,795 (GRCm39)	M8L	probably benign	Het
Gpr179	T	C	11: 97,240,616 (GRCm39)	Q269R	probably benign	Het
Hjv	C	A	3: 96,434,790 (GRCm39)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,578,060 (GRCm39)	H483R	possibly damaging	Het
Il25	G	A	14: 55,170,615 (GRCm39)	A63T	probably benign	Het
Krt27	T	A	11: 99,237,640 (GRCm39)	N366I	probably benign	Het
Mfge8	A	G	7: 78,792,268 (GRCm39)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,407,290 (GRCm39)	V373A	probably damaging	Het
Or4c100	A	G	2: 88,356,830 (GRCm39)	N301S	probably benign	Het
Otulinl	A	G	15: 27,657,321 (GRCm39)		probably benign	Het
Pcdh20	A	G	14: 88,706,607 (GRCm39)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,631,603 (GRCm39)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,286,013 (GRCm39)	I1084T	probably benign	Het
Poteg	T	C	8: 27,939,923 (GRCm39)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,345 (GRCm39)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,203,628 (GRCm39)	D358G	probably damaging	Het
Slx9	T	C	10: 77,350,226 (GRCm39)	D35G	possibly damaging	Het
Snapc4	A	G	2: 26,259,965 (GRCm39)	S495P	probably damaging	Het
Surf6	A	G	2: 26,789,368 (GRCm39)	I123T	probably damaging	Het
Sybu	A	T	15: 44,541,091 (GRCm39)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,267,421 (GRCm39)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,466,930 (GRCm39)	F72L	probably benign	Het
Tsks	C	T	7: 44,593,216 (GRCm39)	R61W	probably damaging	Het
Ube2k	T	C	5: 65,738,772 (GRCm39)	V36A	possibly damaging	Het
Ube3a	T	C	7: 58,938,161 (GRCm39)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,610,080 (GRCm39)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 11,775,761 (GRCm39)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 19,134,629 (GRCm39)	F16I	probably benign	Het
Zfp600	C	T	4: 146,131,892 (GRCm39)	Q187*	probably null	Het

Other mutations in Zfp451

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Zfp451	APN	1	33,825,621 (GRCm39)	intron	probably benign
IGL00423:Zfp451	APN	1	33,816,660 (GRCm39)	missense	probably benign	0.44
IGL00925:Zfp451	APN	1	33,815,342 (GRCm39)	unclassified	probably benign
IGL00971:Zfp451	APN	1	33,822,234 (GRCm39)	missense	probably benign	0.01
IGL01521:Zfp451	APN	1	33,816,412 (GRCm39)	splice site	probably null
IGL01672:Zfp451	APN	1	33,801,247 (GRCm39)	missense	probably benign	0.33
IGL01826:Zfp451	APN	1	33,821,243 (GRCm39)	missense	probably damaging	1.00
IGL02298:Zfp451	APN	1	33,812,002 (GRCm39)	missense	probably damaging	0.98
IGL02343:Zfp451	APN	1	33,815,574 (GRCm39)	missense	probably damaging	1.00
IGL03150:Zfp451	APN	1	33,816,535 (GRCm39)	missense	probably damaging	1.00
IGL03257:Zfp451	APN	1	33,816,129 (GRCm39)	missense	possibly damaging	0.90
R0006:Zfp451	UTSW	1	33,841,861 (GRCm39)	intron	probably benign
R0068:Zfp451	UTSW	1	33,816,706 (GRCm39)	missense	probably damaging	1.00
R0068:Zfp451	UTSW	1	33,816,706 (GRCm39)	missense	probably damaging	1.00
R0358:Zfp451	UTSW	1	33,816,810 (GRCm39)	missense	probably damaging	1.00
R0441:Zfp451	UTSW	1	33,816,126 (GRCm39)	missense	probably damaging	0.96
R0483:Zfp451	UTSW	1	33,809,991 (GRCm39)	splice site	probably benign
R0745:Zfp451	UTSW	1	33,809,929 (GRCm39)	nonsense	probably null
R1469:Zfp451	UTSW	1	33,808,894 (GRCm39)	missense	possibly damaging	0.93
R1469:Zfp451	UTSW	1	33,808,894 (GRCm39)	missense	possibly damaging	0.93
R1486:Zfp451	UTSW	1	33,816,808 (GRCm39)	missense	probably damaging	0.99
R1774:Zfp451	UTSW	1	33,852,849 (GRCm39)	missense	probably benign	0.02
R1929:Zfp451	UTSW	1	33,822,937 (GRCm39)	missense	probably benign	0.12
R1929:Zfp451	UTSW	1	33,821,274 (GRCm39)	missense	probably damaging	1.00
R1933:Zfp451	UTSW	1	33,816,903 (GRCm39)	missense	probably damaging	1.00
R2108:Zfp451	UTSW	1	33,818,248 (GRCm39)	missense	possibly damaging	0.93
R2225:Zfp451	UTSW	1	33,809,988 (GRCm39)	splice site	probably benign
R2372:Zfp451	UTSW	1	33,819,133 (GRCm39)	splice site	probably null
R3923:Zfp451	UTSW	1	33,818,126 (GRCm39)	missense	probably null	1.00
R4295:Zfp451	UTSW	1	33,816,836 (GRCm39)	missense	probably damaging	0.99
R4409:Zfp451	UTSW	1	33,816,494 (GRCm39)	missense	probably damaging	1.00
R4617:Zfp451	UTSW	1	33,841,752 (GRCm39)	intron	probably benign
R4757:Zfp451	UTSW	1	33,804,939 (GRCm39)	missense	probably damaging	0.98
R4777:Zfp451	UTSW	1	33,821,186 (GRCm39)	missense	possibly damaging	0.80
R4906:Zfp451	UTSW	1	33,844,465 (GRCm39)	missense	probably damaging	1.00
R4964:Zfp451	UTSW	1	33,816,942 (GRCm39)	missense	probably damaging	1.00
R5128:Zfp451	UTSW	1	33,842,014 (GRCm39)	intron	probably benign
R5129:Zfp451	UTSW	1	33,842,014 (GRCm39)	intron	probably benign
R5383:Zfp451	UTSW	1	33,852,887 (GRCm39)	missense	probably damaging	1.00
R5446:Zfp451	UTSW	1	33,816,609 (GRCm39)	missense	probably damaging	1.00
R6154:Zfp451	UTSW	1	33,842,627 (GRCm39)	intron	probably benign
R6228:Zfp451	UTSW	1	33,842,219 (GRCm39)	intron	probably benign
R6272:Zfp451	UTSW	1	33,842,325 (GRCm39)	intron	probably benign
R6296:Zfp451	UTSW	1	33,808,898 (GRCm39)	nonsense	probably null
R6321:Zfp451	UTSW	1	33,852,816 (GRCm39)	missense	probably damaging	1.00
R6445:Zfp451	UTSW	1	33,812,092 (GRCm39)	missense	probably damaging	1.00
R6528:Zfp451	UTSW	1	33,816,862 (GRCm39)	missense	probably damaging	1.00
R6562:Zfp451	UTSW	1	33,801,260 (GRCm39)	missense	possibly damaging	0.90
R6739:Zfp451	UTSW	1	33,842,675 (GRCm39)	intron	probably benign
R6911:Zfp451	UTSW	1	33,842,537 (GRCm39)	intron	probably benign
R7042:Zfp451	UTSW	1	33,816,474 (GRCm39)	missense	probably damaging	1.00
R7071:Zfp451	UTSW	1	33,815,825 (GRCm39)	missense	possibly damaging	0.96
R7082:Zfp451	UTSW	1	33,811,972 (GRCm39)	critical splice donor site	probably null
R7123:Zfp451	UTSW	1	33,815,950 (GRCm39)	missense	probably damaging	1.00
R7149:Zfp451	UTSW	1	33,816,405 (GRCm39)	missense	probably damaging	1.00
R7179:Zfp451	UTSW	1	33,841,651 (GRCm39)	missense	unknown
R7185:Zfp451	UTSW	1	33,808,974 (GRCm39)	missense	probably damaging	1.00
R7228:Zfp451	UTSW	1	33,842,475 (GRCm39)	missense	unknown
R7402:Zfp451	UTSW	1	33,852,843 (GRCm39)	missense	probably benign
R7462:Zfp451	UTSW	1	33,816,094 (GRCm39)	missense	probably damaging	1.00
R7488:Zfp451	UTSW	1	33,818,221 (GRCm39)	missense	probably benign	0.22
R7507:Zfp451	UTSW	1	33,808,840 (GRCm39)	missense	probably damaging	1.00
R7774:Zfp451	UTSW	1	33,844,474 (GRCm39)	missense	probably benign	0.20
R7835:Zfp451	UTSW	1	33,812,060 (GRCm39)	missense	probably damaging	1.00
R7979:Zfp451	UTSW	1	33,821,219 (GRCm39)	missense	probably benign	0.01
R8123:Zfp451	UTSW	1	33,801,248 (GRCm39)	missense	possibly damaging	0.92
R8137:Zfp451	UTSW	1	33,821,156 (GRCm39)	missense	possibly damaging	0.57
R8938:Zfp451	UTSW	1	33,842,063 (GRCm39)	intron	probably benign
R8974:Zfp451	UTSW	1	33,816,535 (GRCm39)	missense	probably damaging	1.00
R9036:Zfp451	UTSW	1	33,815,562 (GRCm39)	missense	probably damaging	1.00
RF005:Zfp451	UTSW	1	33,815,873 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAACAAAGTCTCCATTTGGCC -3'
(R):5'- GTGAATGCTATTGTTGCAGAAGAC -3'

Sequencing Primer
(F):5'- GTCTCCATTTGGCCAATAAAGC -3'
(R):5'- TGCTATTGTTGCAGAAGACAATAG -3'

Posted On

2019-05-13