Mutagenetix > Incidental Mutations

Incidental Mutation 'R0614:Zfp472'

54978

Institutional Source

Beutler Lab

Gene Symbol

Zfp472

Ensembl Gene

ENSMUSG00000053600

Gene Name

zinc finger protein 472

Synonyms

Krim-1, Krim-1A, Krim-1B

MMRRC Submission

038803-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32965814-32979233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32977934 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 328 (E328K)

Ref Sequence

ENSEMBL: ENSMUSP00000036514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039132]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039132
AA Change: E328K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036514
Gene: ENSMUSG00000053600
AA Change: E328K

Domain	Start	End	E-Value	Type
KRAB	10	62	4.36e-15	SMART
ZnF_C2H2	197	219	2.45e0	SMART
ZnF_C2H2	225	247	2.75e-3	SMART
ZnF_C2H2	253	275	1.76e-1	SMART
ZnF_C2H2	281	303	3.58e-2	SMART
ZnF_C2H2	309	331	3.29e-1	SMART
ZnF_C2H2	337	359	6.08e0	SMART
ZnF_C2H2	365	387	2.32e-1	SMART
ZnF_C2H2	393	415	6.57e-1	SMART
ZnF_C2H2	421	443	1.5e-4	SMART
ZnF_C2H2	449	471	2.2e-2	SMART
ZnF_C2H2	477	499	1.01e-1	SMART
ZnF_C2H2	505	527	8.94e-3	SMART

Meta Mutation Damage Score

0.2438

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,192,663	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,364,031	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,766,614	Q249L	probably damaging	Het
Akap2	C	A	4: 57,856,720	A926E	probably benign	Het
Ap1g2	C	T	14: 55,099,773	V702I	probably benign	Het
Armcx5	G	A	X: 135,746,815	E547K	probably damaging	Het
Asah2	C	A	19: 32,016,728	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,533,587		probably benign	Het
Axl	C	A	7: 25,774,163	R346L	probably benign	Het
Baz1a	G	A	12: 54,941,519	R282*	probably null	Het
Card14	A	G	11: 119,322,827	N200S	probably benign	Het
Cdt1	A	G	8: 122,568,137	T28A	probably benign	Het
Cep250	C	T	2: 155,970,097	Q438*	probably null	Het
Dapk1	C	A	13: 60,718,132	P181Q	probably damaging	Het
Dnah17	C	T	11: 118,070,568		probably benign	Het
Dph7	T	C	2: 24,968,956		probably null	Het
Edc4	A	T	8: 105,889,396	D801V	possibly damaging	Het
Eif4g2	A	G	7: 111,077,223		probably null	Het
Eml2	T	C	7: 19,202,591	L531P	probably damaging	Het
Ephb2	T	C	4: 136,673,365	Y533C	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fsip2	A	G	2: 82,977,533	K1399E	probably benign	Het
Hcls1	A	G	16: 36,962,625	D446G	probably damaging	Het
Hif1a	T	A	12: 73,945,631	N787K	probably damaging	Het
Ints14	T	C	9: 64,964,433	S18P	probably benign	Het
Kalrn	A	T	16: 33,993,670		probably benign	Het
Llgl2	T	A	11: 115,850,267	D502E	probably damaging	Het
Lrwd1	A	G	5: 136,123,500	V570A	probably damaging	Het
Mga	C	G	2: 119,964,466	P2877R	probably damaging	Het
Mvd	T	C	8: 122,436,553	I313V	probably benign	Het
Myo15b	C	A	11: 115,882,913	P270T	probably damaging	Het
Naip1	C	A	13: 100,444,200	V180L	probably benign	Het
Ofd1	T	C	X: 166,435,540		probably benign	Het
Olfr1233	T	A	2: 89,339,985	I106F	probably damaging	Het
Olfr1423	A	T	19: 12,036,565	M59K	possibly damaging	Het
Olfr348	T	A	2: 36,786,693	L56H	probably damaging	Het
Otogl	G	A	10: 107,798,355	P1420S	probably benign	Het
Pcnt	C	T	10: 76,420,316	V697M	probably damaging	Het
Plekha7	A	T	7: 116,154,645	Y702*	probably null	Het
Plxnb3	A	G	X: 73,764,358		probably benign	Het
Ptgis	A	G	2: 167,206,882	F405L	probably damaging	Het
Ptprk	C	T	10: 28,075,136	P19L	probably damaging	Het
Ptprt	A	G	2: 161,812,120	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 29,145,851	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,523,626		probably null	Het
Slc6a15	T	A	10: 103,404,352	L312*	probably null	Het
Slf1	T	A	13: 77,049,114	M794L	probably benign	Het
Sntg2	G	A	12: 30,257,978	T236I	possibly damaging	Het
Stau1	T	C	2: 166,950,806	Y413C	probably damaging	Het
Syne2	T	G	12: 75,912,353		probably null	Het
Tas2r104	A	T	6: 131,685,202	N181K	probably damaging	Het
Tmem81	G	A	1: 132,507,731	V92I	probably benign	Het
Trap1	A	G	16: 4,060,751		probably benign	Het
Trip12	T	C	1: 84,757,761	E905G	probably damaging	Het
Usp2	C	T	9: 44,092,492	R494*	probably null	Het
Vps13a	G	T	19: 16,652,694	R2692S	probably damaging	Het
Zfhx3	T	C	8: 108,948,539	S2074P	probably benign	Het
Zfhx3	C	G	8: 108,948,967	Y2216*	probably null	Het
Zfp423	A	G	8: 87,782,114	F409S	probably damaging	Het
Zfp619	T	A	7: 39,537,675	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,846,246	I79V	probably benign	Het

Other mutations in Zfp472

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Zfp472	APN	17	32977524	missense	possibly damaging	0.47
IGL03012:Zfp472	APN	17	32977571	missense	probably benign	0.18
IGL03184:Zfp472	APN	17	32977416	nonsense	probably null
IGL03223:Zfp472	APN	17	32977274	missense	probably benign	0.03
R0421:Zfp472	UTSW	17	32975923	missense	possibly damaging	0.71
R0463:Zfp472	UTSW	17	32975962	missense	probably damaging	0.98
R1348:Zfp472	UTSW	17	32977820	missense	probably benign	0.44
R1557:Zfp472	UTSW	17	32975926	missense	probably benign	0.32
R1630:Zfp472	UTSW	17	32977978	nonsense	probably null
R1725:Zfp472	UTSW	17	32977337	missense	possibly damaging	0.53
R1856:Zfp472	UTSW	17	32965913	missense	possibly damaging	0.53
R1964:Zfp472	UTSW	17	32977874	missense	possibly damaging	0.79
R2115:Zfp472	UTSW	17	32978014	missense	possibly damaging	0.73
R2249:Zfp472	UTSW	17	32978135	missense	possibly damaging	0.87
R2252:Zfp472	UTSW	17	32976283	nonsense	probably null
R3709:Zfp472	UTSW	17	32977711	nonsense	probably null
R4119:Zfp472	UTSW	17	32978215	nonsense	probably null
R4406:Zfp472	UTSW	17	32978160	missense	probably benign	0.01
R4485:Zfp472	UTSW	17	32977568	missense	possibly damaging	0.96
R4650:Zfp472	UTSW	17	32977657	missense	possibly damaging	0.86
R4820:Zfp472	UTSW	17	32977442	missense	probably benign	0.01
R5369:Zfp472	UTSW	17	32977743	missense	probably damaging	0.98
R5438:Zfp472	UTSW	17	32978219	missense	probably damaging	0.96
R5529:Zfp472	UTSW	17	32978433	missense	possibly damaging	0.92
R5950:Zfp472	UTSW	17	32977507	missense	possibly damaging	0.53
R6158:Zfp472	UTSW	17	32978389	nonsense	probably null
R7012:Zfp472	UTSW	17	32977246	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGAAACCCTTTGCCTGTAAGCAAT -3'
(R):5'- AGACATTCCCATGATTTAGAGTGCGAGA -3'

Sequencing Primer
(F):5'- CAATGTGGGAAAGCATTTCTTCG -3'
(R):5'- ctttcccacactgcttacatac -3'

Posted On

2013-07-11