Mutagenetix > Incidental Mutation

Incidental Mutation 'R4015:Zfp867'

311913

Institutional Source

Beutler Lab

Gene Symbol

Zfp867

Ensembl Gene

ENSMUSG00000054519

Gene Name

zinc finger protein 867

Synonyms

MMRRC Submission

040952-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

R4015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59352023-59363300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59354520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 270 (F270L)

Ref Sequence

ENSEMBL: ENSMUSP00000050746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057799]

AlphaFold

E9Q2M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000057799
AA Change: F270L

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

SMART Domains

Protein: ENSMUSP00000050746
Gene: ENSMUSG00000054519
AA Change: F270L

Domain	Start	End	E-Value	Type
KRAB	12	70	1.36e-16	SMART
low complexity region	84	90	N/A	INTRINSIC
ZnF_C2H2	121	143	4.47e-3	SMART
ZnF_C2H2	149	171	5.59e-4	SMART
ZnF_C2H2	177	199	5.5e-3	SMART
ZnF_C2H2	205	227	5.14e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	5.5e-3	SMART
ZnF_C2H2	289	311	1.38e-3	SMART
ZnF_C2H2	317	339	5.42e-2	SMART
ZnF_C2H2	346	368	1.47e-3	SMART
ZnF_C2H2	374	396	7.11e0	SMART
ZnF_C2H2	402	424	1.69e-3	SMART

Meta Mutation Damage Score

0.6682

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,151,135 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,358,331 (GRCm39)	D580G	probably damaging	Het
Ccdc66	A	G	14: 27,205,793 (GRCm39)	I898T	probably damaging	Het
Celf3	T	C	3: 94,394,505 (GRCm39)	V202A	probably benign	Het
Cfap161	C	T	7: 83,429,479 (GRCm39)	G180S	probably benign	Het
Col5a2	T	C	1: 45,442,631 (GRCm39)	I605V	probably benign	Het
Coq6	A	G	12: 84,413,671 (GRCm39)	H67R	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Cyp4a14	G	T	4: 115,348,331 (GRCm39)	P382Q	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Ddias	T	C	7: 92,509,069 (GRCm39)	K282R	probably benign	Het
Dnah10	A	G	5: 124,854,990 (GRCm39)	Q1965R	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Mocs2	T	C	13: 114,957,334 (GRCm39)		probably benign	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Nalcn	T	G	14: 123,723,799 (GRCm39)	E422A	probably damaging	Het
Pcdh17	T	C	14: 84,684,547 (GRCm39)	V338A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbm12b1	T	C	4: 12,145,491 (GRCm39)	S488P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Srcap	C	A	7: 127,124,595 (GRCm39)	P255Q	probably benign	Het
Sult6b2	T	A	6: 142,735,988 (GRCm39)	N202I	possibly damaging	Het
Tcf7l1	A	G	6: 72,613,382 (GRCm39)		probably benign	Het
Tef	T	C	15: 81,707,806 (GRCm39)	V261A	probably damaging	Het
Trio	C	T	15: 27,744,187 (GRCm39)	V2582I	possibly damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Uggt2	T	C	14: 119,263,845 (GRCm39)	N1062D	possibly damaging	Het
Unc13b	G	A	4: 43,237,801 (GRCm39)	G3441R	probably damaging	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het

Other mutations in Zfp867

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03156:Zfp867	APN	11	59,355,834 (GRCm39)	splice site	probably benign
IGL03338:Zfp867	APN	11	59,355,003 (GRCm39)	nonsense	probably null
R0040:Zfp867	UTSW	11	59,354,691 (GRCm39)	missense	possibly damaging	0.88
R1997:Zfp867	UTSW	11	59,354,417 (GRCm39)	missense	probably damaging	0.98
R2251:Zfp867	UTSW	11	59,356,319 (GRCm39)	nonsense	probably null
R4429:Zfp867	UTSW	11	59,355,863 (GRCm39)	missense	possibly damaging	0.55
R4697:Zfp867	UTSW	11	59,354,487 (GRCm39)	missense	probably damaging	1.00
R7428:Zfp867	UTSW	11	59,354,760 (GRCm39)	missense	probably benign	0.03
R7736:Zfp867	UTSW	11	59,354,016 (GRCm39)	missense	probably damaging	1.00
R8075:Zfp867	UTSW	11	59,355,066 (GRCm39)	missense	probably benign
R8774:Zfp867	UTSW	11	59,354,837 (GRCm39)	missense	probably damaging	0.96
R8774-TAIL:Zfp867	UTSW	11	59,354,837 (GRCm39)	missense	probably damaging	0.96
R9674:Zfp867	UTSW	11	59,355,850 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCTAAGGGAAGTGGAGCAAC -3'
(R):5'- TCATTTCCCCAGTGAGTTCAG -3'

Sequencing Primer
(F):5'- CTCTCCAGCATGAGATGACTGATG -3'
(R):5'- TCACACTGGGGAGAAGCCTTATTC -3'

Posted On

2015-04-29