Mutagenetix > Incidental Mutation

Incidental Mutation 'R6445:Zfp451'

519149

Institutional Source

Beutler Lab

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

MMRRC Submission

044388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33800626-33853676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33812092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 874 (D874E)

Ref Sequence

ENSEMBL: ENSMUSP00000019861 (fasta)

Gene Model

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

AlphaFold

Q8C0P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019861
AA Change: D874E

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

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: D874E

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC061237	C	A	14: 44,738,731 (GRCm39)	D43E	probably benign	Het
Cdh22	T	C	2: 165,012,612 (GRCm39)	I158V	probably damaging	Het
Cntrl	A	G	2: 35,052,860 (GRCm39)	I1676V	probably benign	Het
Crem	T	C	18: 3,309,671 (GRCm39)	Y18C	probably benign	Het
Cyp2b9	A	G	7: 25,886,412 (GRCm39)	I146V	probably benign	Het
Efcab14	C	A	4: 115,613,668 (GRCm39)	H205Q	possibly damaging	Het
Efcab6	T	C	15: 83,752,558 (GRCm39)	Y1437C	probably damaging	Het
Gm3055	T	A	10: 81,945,506 (GRCm39)	N375K	possibly damaging	Het
Gm36864	A	T	7: 43,886,842 (GRCm39)	Q245L	possibly damaging	Het
Gna11	A	T	10: 81,369,167 (GRCm39)	I132N	probably damaging	Het
Ikzf4	C	A	10: 128,472,424 (GRCm39)		probably null	Het
Il9r	C	T	11: 32,141,000 (GRCm39)	G346D	possibly damaging	Het
Krt71	C	T	15: 101,648,775 (GRCm39)	R190Q	probably benign	Het
Mfsd8	T	C	3: 40,791,553 (GRCm39)	I54V	probably damaging	Het
Nktr	G	T	9: 121,577,480 (GRCm39)		probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or5ac17	A	T	16: 59,036,472 (GRCm39)	F168Y	probably damaging	Het
Peli2	T	C	14: 48,493,905 (GRCm39)	S376P	possibly damaging	Het
Pik3r2	C	T	8: 71,224,670 (GRCm39)	A202T	probably benign	Het
Pms1	A	T	1: 53,231,353 (GRCm39)	I832K	possibly damaging	Het
Reln	T	C	5: 22,124,212 (GRCm39)	K2765E	probably benign	Het
Rp1	A	T	1: 4,296,840 (GRCm39)	N744K	unknown	Het
Smcr8	T	C	11: 60,669,841 (GRCm39)	Y330H	possibly damaging	Het
Sned1	A	T	1: 93,211,318 (GRCm39)	R281S	possibly damaging	Het
Synm	A	G	7: 67,383,393 (GRCm39)	V1423A	probably benign	Het
Syt10	G	A	15: 89,698,471 (GRCm39)	T291I	probably damaging	Het
Ttn	T	C	2: 76,744,880 (GRCm39)		probably benign	Het
Wdr3	T	C	3: 100,063,719 (GRCm39)	T186A	possibly damaging	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
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
R7044:Zfp451	UTSW	1	33,841,248 (GRCm39)	intron	probably benign
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'- CATTCTCAGAAGAGTGCCCC -3'
(R):5'- CGTGTGAAATATCCTAAGCACTACTTG -3'

Sequencing Primer
(F):5'- GAAGAGTGCCCCTCCCTAATG -3'
(R):5'- AATGGTTCTATGCAGATTGGATTTC -3'

Posted On

2018-05-24