Mutagenetix > Incidental Mutation

Incidental Mutation 'R6511:Zfp2'

519924

Institutional Source

Beutler Lab

Gene Symbol

Zfp2

Ensembl Gene

ENSMUSG00000049321

Gene Name

zinc finger protein 2

Synonyms

Zfp-2, Fnp-2, 9930007F06Rik, mkr-2

MMRRC Submission

044639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50898712-50916165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50900407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 270 (C270S)

Ref Sequence

ENSEMBL: ENSMUSP00000112079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109128] [ENSMUST00000109129] [ENSMUST00000116378]

AlphaFold

P08043

Predicted Effect

probably damaging
Transcript: ENSMUST00000109128
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104756
Gene: ENSMUSG00000049321
AA Change: C270S

Domain	Start	End	E-Value	Type
ZnF_C2H2	100	122	4.87e-4	SMART
ZnF_C2H2	128	150	1.04e-3	SMART
ZnF_C2H2	156	178	5.59e-4	SMART
ZnF_C2H2	184	206	3.69e-4	SMART
ZnF_C2H2	212	234	9.08e-4	SMART
ZnF_C2H2	240	262	1.04e-3	SMART
ZnF_C2H2	268	290	1.58e-3	SMART
ZnF_C2H2	296	318	2.27e-4	SMART
ZnF_C2H2	324	346	9.08e-4	SMART
ZnF_C2H2	352	374	1.38e-3	SMART
ZnF_C2H2	380	402	2.43e-4	SMART
ZnF_C2H2	408	430	1.95e-3	SMART
ZnF_C2H2	436	458	2.15e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109129
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104757
Gene: ENSMUSG00000049321
AA Change: C270S

Domain	Start	End	E-Value	Type
ZnF_C2H2	100	122	4.87e-4	SMART
ZnF_C2H2	128	150	1.04e-3	SMART
ZnF_C2H2	156	178	5.59e-4	SMART
ZnF_C2H2	184	206	3.69e-4	SMART
ZnF_C2H2	212	234	9.08e-4	SMART
ZnF_C2H2	240	262	1.04e-3	SMART
ZnF_C2H2	268	290	1.58e-3	SMART
ZnF_C2H2	296	318	2.27e-4	SMART
ZnF_C2H2	324	346	9.08e-4	SMART
ZnF_C2H2	352	374	1.38e-3	SMART
ZnF_C2H2	380	402	2.43e-4	SMART
ZnF_C2H2	408	430	1.95e-3	SMART
ZnF_C2H2	436	458	2.15e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116378
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112079
Gene: ENSMUSG00000049321
AA Change: C270S

Domain	Start	End	E-Value	Type
ZnF_C2H2	100	122	4.87e-4	SMART
ZnF_C2H2	128	150	1.04e-3	SMART
ZnF_C2H2	156	178	5.59e-4	SMART
ZnF_C2H2	184	206	3.69e-4	SMART
ZnF_C2H2	212	234	9.08e-4	SMART
ZnF_C2H2	240	262	1.04e-3	SMART
ZnF_C2H2	268	290	1.58e-3	SMART
ZnF_C2H2	296	318	2.27e-4	SMART
ZnF_C2H2	324	346	9.08e-4	SMART
ZnF_C2H2	352	374	1.38e-3	SMART
ZnF_C2H2	380	402	2.43e-4	SMART
ZnF_C2H2	408	430	1.95e-3	SMART
ZnF_C2H2	436	458	2.15e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150903

Meta Mutation Damage Score

0.8413

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,376,594	H718Y	probably damaging	Het
Abcc8	G	A	7: 46,150,861	T499I	possibly damaging	Het
Azin2	C	A	4: 128,934,466	R316L	probably damaging	Het
Cep85l	C	T	10: 53,278,092	V702I	probably benign	Het
Cfap69	A	T	5: 5,617,220	C442S	probably damaging	Het
Commd3	G	A	2: 18,674,839	G148R	probably benign	Het
Cyfip2	T	C	11: 46,196,308	T1252A	probably benign	Het
Cyp4a30b	A	T	4: 115,456,708	D162V	probably damaging	Het
Exoc3l	G	T	8: 105,293,255	T346K	probably benign	Het
Gas8	T	C	8: 123,524,157	V123A	probably benign	Het
Gm8890	A	G	5: 11,257,308	Y51C	probably benign	Het
Hmcn2	T	G	2: 31,356,342	D774E	possibly damaging	Het
Itga1	G	T	13: 114,992,501	S540R	probably damaging	Het
Itpr2	T	C	6: 146,329,727	N1145S	probably damaging	Het
Kcnc2	C	T	10: 112,462,067		probably benign	Het
Lrp5	G	A	19: 3,652,296	R174W	probably damaging	Het
Lrrn4	T	G	2: 132,870,326	S526R	probably benign	Het
Map3k6	G	A	4: 133,248,078	R708H	probably damaging	Het
Mefv	T	C	16: 3,715,946	T154A	probably benign	Het
Mkl2	T	A	16: 13,379,850	S66R	probably damaging	Het
Mtif2	G	T	11: 29,536,949	A320S	possibly damaging	Het
Nos2	A	G	11: 78,955,464		probably null	Het
Olfr1006	A	G	2: 85,674,840	S104P	possibly damaging	Het
Olfr725	A	G	14: 50,034,809	L198P	probably damaging	Het
Pip5k1c	T	C	10: 81,310,817	Y44H	probably damaging	Het
Ppp1r13b	T	C	12: 111,831,567	E972G	probably damaging	Het
Prdm12	T	C	2: 31,640,309	S71P	probably damaging	Het
Prkag2	G	T	5: 25,100,288		probably benign	Het
Ptprb	T	C	10: 116,346,820	L1467P	probably damaging	Het
Rnf43	G	A	11: 87,732,163	V697I	probably benign	Het
Rpl7	C	A	1: 16,103,665	A12S	probably benign	Het
Slc25a54	T	G	3: 109,094,256	I120S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,788	H370R	probably damaging	Het
Sv2c	C	T	13: 96,048,525	V215I	probably benign	Het
Synpo2l	T	C	14: 20,662,450	E34G	probably damaging	Het
Tubgcp5	T	A	7: 55,817,392	C703*	probably null	Het
Vmn1r158	T	C	7: 22,790,691	K31R	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het

Other mutations in Zfp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Zfp2	APN	11	50901004	missense	probably benign	0.00
inanes	UTSW	11	50900407	missense	probably damaging	1.00
R0689:Zfp2	UTSW	11	50900907	missense	probably benign	0.00
R1851:Zfp2	UTSW	11	50901088	missense	probably benign	0.06
R1938:Zfp2	UTSW	11	50899982	missense	possibly damaging	0.61
R2084:Zfp2	UTSW	11	50900962	missense	probably benign
R3859:Zfp2	UTSW	11	50900096	missense	possibly damaging	0.93
R4899:Zfp2	UTSW	11	50900014	missense	probably damaging	1.00
R5294:Zfp2	UTSW	11	50901241	start gained	probably benign
R5511:Zfp2	UTSW	11	50900024	missense	probably damaging	0.97
R5583:Zfp2	UTSW	11	50900157	missense	possibly damaging	0.83
R6358:Zfp2	UTSW	11	50900601	missense	probably damaging	0.99
R7290:Zfp2	UTSW	11	50900743	missense	probably damaging	1.00
R7740:Zfp2	UTSW	11	50900778	missense	probably damaging	1.00
R8534:Zfp2	UTSW	11	50900800	missense	possibly damaging	0.73
R8894:Zfp2	UTSW	11	50901016	missense	possibly damaging	0.72
R9375:Zfp2	UTSW	11	50900215	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTTCCACACTGATTGCA -3'
(R):5'- GGCAGAGTTCATCCCTGCTT -3'

Sequencing Primer
(F):5'- GCATTCAAAAGGTTTCACTCCGGAG -3'
(R):5'- CCCTACAAATGTCATGAGTGTGG -3'

Posted On

2018-06-06