Mutagenetix > Incidental Mutation

Incidental Mutation 'R2249:Zfp472'

240808

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

040249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33184805-33198185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33197109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 395 (C395S)

Ref Sequence

ENSEMBL: ENSMUSP00000036514 (fasta)

Gene Model

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

AlphaFold

B0V2W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039132
AA Change: C395S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036514
Gene: ENSMUSG00000053600
AA Change: C395S

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,100,975 (GRCm39)	R379Q	probably null	Het
Adam23	C	T	1: 63,574,335 (GRCm39)	Q276*	probably null	Het
Apob	A	T	12: 8,057,499 (GRCm39)	S1961C	probably damaging	Het
Atxn7l1	C	T	12: 33,408,839 (GRCm39)	P334S	probably damaging	Het
Ccnb1	T	C	13: 100,917,827 (GRCm39)	M258V	possibly damaging	Het
Cd34	A	C	1: 194,630,260 (GRCm39)	T65P	possibly damaging	Het
Cog6	A	G	3: 52,907,900 (GRCm39)		probably null	Het
Cp	T	C	3: 20,041,734 (GRCm39)	M953T	probably damaging	Het
Cwc27	C	T	13: 104,768,130 (GRCm39)	R455Q	unknown	Het
Dhx57	A	T	17: 80,588,663 (GRCm39)	D63E	probably damaging	Het
Elapor1	A	T	3: 108,378,726 (GRCm39)	Y409*	probably null	Het
Flt4	T	A	11: 49,536,786 (GRCm39)	M1252K	possibly damaging	Het
Gfral	C	T	9: 76,100,631 (GRCm39)	C269Y	probably damaging	Het
Itih4	C	T	14: 30,621,351 (GRCm39)	Q788*	probably null	Het
Kif18b	A	G	11: 102,803,214 (GRCm39)	S499P	probably benign	Het
Map1a	G	C	2: 121,130,768 (GRCm39)	R528P	probably damaging	Het
Map3k5	T	C	10: 20,003,443 (GRCm39)	F1152L	probably damaging	Het
Marveld2	T	C	13: 100,748,599 (GRCm39)	D160G	probably benign	Het
Mtcl2	A	T	2: 156,882,013 (GRCm39)	C680S	probably benign	Het
Mug1	A	T	6: 121,847,469 (GRCm39)	M616L	probably benign	Het
Ndst4	A	T	3: 125,231,823 (GRCm39)	I131F	probably benign	Het
Neto1	G	T	18: 86,479,399 (GRCm39)	A196S	probably benign	Het
Notum	A	G	11: 120,545,237 (GRCm39)	F441L	probably benign	Het
Nsmce4a	A	G	7: 130,140,769 (GRCm39)	I239T	probably benign	Het
Or51g1	A	T	7: 102,633,647 (GRCm39)	N241K	possibly damaging	Het
Or52z14	T	A	7: 103,252,943 (GRCm39)	D27E	probably benign	Het
Or5d35	A	T	2: 87,855,707 (GRCm39)	I214F	probably damaging	Het
Or6s1	T	A	14: 51,307,870 (GRCm39)	K327*	probably null	Het
Or6x1	A	T	9: 40,098,980 (GRCm39)	T190S	possibly damaging	Het
Or8k40	A	G	2: 86,584,398 (GRCm39)	M228T	probably damaging	Het
Pde4dip	A	T	3: 97,700,841 (GRCm39)	V221D	probably damaging	Het
Pkp1	T	C	1: 135,808,545 (GRCm39)	Y474C	probably damaging	Het
Ptk6	A	C	2: 180,838,173 (GRCm39)	H363Q	probably benign	Het
Rb1cc1	T	C	1: 6,342,948 (GRCm39)	W187R	probably damaging	Het
Rbfox3	A	T	11: 118,394,564 (GRCm39)	F132L	probably damaging	Het
Rcl1	A	T	19: 29,099,268 (GRCm39)	I188F	possibly damaging	Het
Scfd1	T	A	12: 51,462,299 (GRCm39)	S385T	possibly damaging	Het
Sema6d	A	G	2: 124,501,508 (GRCm39)	E483G	possibly damaging	Het
Semp2l2b	T	C	10: 21,943,015 (GRCm39)	I322V	possibly damaging	Het
Sipa1l1	T	C	12: 82,388,890 (GRCm39)	V372A	probably benign	Het
Slc17a6	G	A	7: 51,317,654 (GRCm39)	G429D	probably damaging	Het
Slc22a5	A	G	11: 53,774,532 (GRCm39)	V151A	possibly damaging	Het
Spidr	T	C	16: 15,936,787 (GRCm39)	D106G	probably damaging	Het
Tekt3	A	T	11: 62,974,778 (GRCm39)	T366S	probably benign	Het
Trpm3	T	C	19: 22,710,398 (GRCm39)	M281T	probably benign	Het
Ttn	A	G	2: 76,782,485 (GRCm39)	V917A	probably damaging	Het
Tubgcp4	A	T	2: 121,014,110 (GRCm39)	D221V	possibly damaging	Het
Ubr4	C	T	4: 139,176,232 (GRCm39)	R3153W	probably damaging	Het
Vmn1r89	A	C	7: 12,954,187 (GRCm39)	T308P	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,326 (GRCm39)	I27T	probably benign	Het
Vps13c	T	G	9: 67,895,335 (GRCm39)		probably null	Het
Zfp142	A	G	1: 74,606,191 (GRCm39)	V1793A	probably damaging	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
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
R7012:Zfp472	UTSW	17	33,196,220 (GRCm39)	missense	probably benign	0.00
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'- GTGCCTGCTATTATCACGAAAG -3'
(R):5'- AGTGCGAGAAATATTAGCCACTG -3'

Sequencing Primer
(F):5'- TTCACACTGGAGAGAAGCCCTG -3'
(R):5'- GACTGTAGCAATCATCACGTTGG -3'

Posted On

2014-10-15