Mutagenetix > Incidental Mutation

Incidental Mutation 'R7012:Zfp472'

545102

Institutional Source

Beutler Lab

Gene Symbol

Zfp472

Ensembl Gene

ENSMUSG00000053600

Gene Name

zinc finger protein 472

Synonyms

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

MMRRC Submission

045113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33184805-33198185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33196220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 98 (N98K)

Ref Sequence

ENSEMBL: ENSMUSP00000036514 (fasta)

Gene Model

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

AlphaFold

B0V2W5

Predicted Effect

probably benign
Transcript: ENSMUST00000039132
AA Change: N98K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000036514
Gene: ENSMUSG00000053600
AA Change: N98K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,431 (GRCm39)	F686L	probably benign	Het
Adcy4	C	T	14: 56,017,376 (GRCm39)	V266I	possibly damaging	Het
Adgrb1	A	G	15: 74,401,750 (GRCm39)	T249A	probably damaging	Het
Adss1	A	G	12: 112,600,670 (GRCm39)	D213G	probably benign	Het
Ap1b1	T	G	11: 4,980,963 (GRCm39)	V453G	probably damaging	Het
Apold1	G	A	6: 134,961,007 (GRCm39)	G154R	probably damaging	Het
Birc5	A	G	11: 117,740,262 (GRCm39)	E29G	probably benign	Het
Clcn1	G	A	6: 42,267,542 (GRCm39)	R75H	probably benign	Het
Cngb1	T	A	8: 95,984,583 (GRCm39)	I868F	possibly damaging	Het
Cntn6	T	A	6: 104,703,223 (GRCm39)	V215E	probably damaging	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Col6a2	A	T	10: 76,450,511 (GRCm39)	I140N	possibly damaging	Het
Cops5	A	G	1: 10,100,890 (GRCm39)	*147Q	probably null	Het
Dbr1	T	A	9: 99,465,374 (GRCm39)	Y317*	probably null	Het
Dock5	A	C	14: 68,060,035 (GRCm39)	V468G	probably damaging	Het
F13b	A	G	1: 139,444,096 (GRCm39)	I477V	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Git1	T	C	11: 77,390,606 (GRCm39)	L114P	probably damaging	Het
Greb1l	G	T	18: 10,529,707 (GRCm39)		probably null	Het
Itih4	A	G	14: 30,612,706 (GRCm39)	N244S	probably benign	Het
Lin28a	A	G	4: 133,746,040 (GRCm39)	S5P	probably damaging	Het
Lipt1	T	C	1: 37,915,060 (GRCm39)	I372T	probably benign	Het
Lysmd4	A	G	7: 66,875,765 (GRCm39)	T143A	probably benign	Het
Muc16	T	C	9: 18,406,914 (GRCm39)		probably null	Het
Or13c9	A	G	4: 52,936,193 (GRCm39)	L30P	probably damaging	Het
Or2y1g	A	T	11: 49,171,823 (GRCm39)	M283L	probably benign	Het
Or5t16	A	T	2: 86,819,051 (GRCm39)	H156Q	possibly damaging	Het
Or6e1	A	G	14: 54,519,674 (GRCm39)	I226T	possibly damaging	Het
Pclo	G	A	5: 14,800,493 (GRCm39)	G4438D	unknown	Het
Phlpp2	T	A	8: 110,603,486 (GRCm39)	F51I	possibly damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rxfp2	T	C	5: 150,004,659 (GRCm39)	V711A	probably benign	Het
Sbno2	A	T	10: 79,905,352 (GRCm39)		probably benign	Het
Setd2	T	A	9: 110,376,751 (GRCm39)	S189T	probably damaging	Het
Sez6	A	G	11: 77,868,621 (GRCm39)	N965S	probably benign	Het
Sh3d19	A	G	3: 85,992,320 (GRCm39)	N116S	probably benign	Het
Slc43a3	T	C	2: 84,777,313 (GRCm39)	Y221H	probably damaging	Het
Slco1a6	T	C	6: 142,032,287 (GRCm39)	I613V	probably benign	Het
Stag3	T	A	5: 138,295,871 (GRCm39)		probably null	Het
Ston1	T	C	17: 88,943,413 (GRCm39)	M273T	probably damaging	Het
Tbc1d32	A	T	10: 56,100,820 (GRCm39)	Y53N	probably damaging	Het
Tmem132b	T	A	5: 125,775,654 (GRCm39)	L376Q	probably damaging	Het
Trim60	A	G	8: 65,453,043 (GRCm39)	V402A	possibly damaging	Het
Tssk5	A	C	15: 76,257,745 (GRCm39)	N178K	probably damaging	Het
Ttll9	T	C	2: 152,844,982 (GRCm39)	I450T	possibly damaging	Het
Tyw1	T	G	5: 130,306,571 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,255,632 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,167,756 (GRCm39)	V670A	probably damaging	Het
Vmn2r98	A	G	17: 19,286,530 (GRCm39)	N343D	probably benign	Het

Other mutations in Zfp472

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Zfp472	APN	17	33,196,498 (GRCm39)	missense	possibly damaging	0.47
IGL03012:Zfp472	APN	17	33,196,545 (GRCm39)	missense	probably benign	0.18
IGL03184:Zfp472	APN	17	33,196,390 (GRCm39)	nonsense	probably null
IGL03223:Zfp472	APN	17	33,196,248 (GRCm39)	missense	probably benign	0.03
R0421:Zfp472	UTSW	17	33,194,897 (GRCm39)	missense	possibly damaging	0.71
R0463:Zfp472	UTSW	17	33,194,936 (GRCm39)	missense	probably damaging	0.98
R0614:Zfp472	UTSW	17	33,196,908 (GRCm39)	missense	possibly damaging	0.53
R1348:Zfp472	UTSW	17	33,196,794 (GRCm39)	missense	probably benign	0.44
R1557:Zfp472	UTSW	17	33,194,900 (GRCm39)	missense	probably benign	0.32
R1630:Zfp472	UTSW	17	33,196,952 (GRCm39)	nonsense	probably null
R1725:Zfp472	UTSW	17	33,196,311 (GRCm39)	missense	possibly damaging	0.53
R1856:Zfp472	UTSW	17	33,184,887 (GRCm39)	missense	possibly damaging	0.53
R1964:Zfp472	UTSW	17	33,196,848 (GRCm39)	missense	possibly damaging	0.79
R2115:Zfp472	UTSW	17	33,196,988 (GRCm39)	missense	possibly damaging	0.73
R2249:Zfp472	UTSW	17	33,197,109 (GRCm39)	missense	possibly damaging	0.87
R2252:Zfp472	UTSW	17	33,195,257 (GRCm39)	nonsense	probably null
R3709:Zfp472	UTSW	17	33,196,685 (GRCm39)	nonsense	probably null
R4119:Zfp472	UTSW	17	33,197,189 (GRCm39)	nonsense	probably null
R4406:Zfp472	UTSW	17	33,197,134 (GRCm39)	missense	probably benign	0.01
R4485:Zfp472	UTSW	17	33,196,542 (GRCm39)	missense	possibly damaging	0.96
R4650:Zfp472	UTSW	17	33,196,631 (GRCm39)	missense	possibly damaging	0.86
R4820:Zfp472	UTSW	17	33,196,416 (GRCm39)	missense	probably benign	0.01
R5369:Zfp472	UTSW	17	33,196,717 (GRCm39)	missense	probably damaging	0.98
R5438:Zfp472	UTSW	17	33,197,193 (GRCm39)	missense	probably damaging	0.96
R5529:Zfp472	UTSW	17	33,197,407 (GRCm39)	missense	possibly damaging	0.92
R5950:Zfp472	UTSW	17	33,196,481 (GRCm39)	missense	possibly damaging	0.53
R6158:Zfp472	UTSW	17	33,197,363 (GRCm39)	nonsense	probably null
R8108:Zfp472	UTSW	17	33,196,977 (GRCm39)	missense	possibly damaging	0.86
R8290:Zfp472	UTSW	17	33,197,088 (GRCm39)	missense	probably benign
R8905:Zfp472	UTSW	17	33,197,455 (GRCm39)	missense	possibly damaging	0.82
R9747:Zfp472	UTSW	17	33,196,271 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GGTACAGTTGGGCCTCAAAC -3'
(R):5'- AGCAACTCAGAATAAGTGAAGTCC -3'

Sequencing Primer
(F):5'- AAACAGGCATTTACTTCTCCTACC -3'
(R):5'- AGTGAAGTCCTTCCAACAGTTC -3'

Posted On

2019-05-13