Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Zfp758'

404381

Institutional Source

Beutler Lab

Gene Symbol

Zfp758

Ensembl Gene

ENSMUSG00000044501

Gene Name

zinc finger protein 758

Synonyms

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22580434-22596262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22593842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 77 (I77M)

Ref Sequence

ENSEMBL: ENSMUSP00000113532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072477] [ENSMUST00000088765] [ENSMUST00000121315] [ENSMUST00000149699]

AlphaFold

E9QAA1

Predicted Effect

probably benign
Transcript: ENSMUST00000072477
AA Change: I77M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: I77M

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088765
AA Change: I77M

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: I77M

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121315
AA Change: I77M

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: I77M

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149699
AA Change: I109M

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: I109M

Domain	Start	End	E-Value	Type
KRAB	45	105	1.55e-20	SMART
ZnF_C2H2	209	231	6.92e0	SMART
ZnF_C2H2	237	259	6.32e-3	SMART
ZnF_C2H2	265	287	1.2e-3	SMART
ZnF_C2H2	293	315	9.08e-4	SMART
ZnF_C2H2	321	343	6.08e-5	SMART
ZnF_C2H2	349	371	1.03e-2	SMART
ZnF_C2H2	377	399	2.24e-3	SMART
ZnF_C2H2	405	427	3.21e-4	SMART
ZnF_C2H2	433	455	6.32e-3	SMART
ZnF_C2H2	461	483	2.24e-3	SMART
ZnF_C2H2	489	511	5.14e-3	SMART
ZnF_C2H2	517	539	1.04e-3	SMART
ZnF_C2H2	545	567	4.4e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eapp	G	A	12: 54,739,703 (GRCm39)	P38L	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,753,259 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,405,345 (GRCm39)	I242F	possibly damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Sugp2	T	A	8: 70,694,827 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,621,830 (GRCm39)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	Het

Other mutations in Zfp758

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Zfp758	APN	17	22,594,021 (GRCm39)	missense	probably damaging	1.00
R1034:Zfp758	UTSW	17	22,594,740 (GRCm39)	nonsense	probably null
R1187:Zfp758	UTSW	17	22,594,171 (GRCm39)	missense	probably benign	0.23
R1733:Zfp758	UTSW	17	22,594,830 (GRCm39)	missense	probably damaging	1.00
R1847:Zfp758	UTSW	17	22,594,204 (GRCm39)	missense	probably benign	0.19
R1927:Zfp758	UTSW	17	22,594,823 (GRCm39)	missense	probably damaging	0.99
R1934:Zfp758	UTSW	17	22,592,633 (GRCm39)	missense	probably damaging	0.99
R2113:Zfp758	UTSW	17	22,580,626 (GRCm39)	missense	probably benign	0.10
R2132:Zfp758	UTSW	17	22,594,951 (GRCm39)	missense	probably damaging	1.00
R5134:Zfp758	UTSW	17	22,594,386 (GRCm39)	missense	probably damaging	1.00
R5274:Zfp758	UTSW	17	22,594,836 (GRCm39)	missense	probably benign	0.31
R5394:Zfp758	UTSW	17	22,591,049 (GRCm39)	missense	probably damaging	0.99
R5813:Zfp758	UTSW	17	22,594,796 (GRCm39)	missense	probably damaging	1.00
R6017:Zfp758	UTSW	17	22,592,712 (GRCm39)	missense	probably damaging	1.00
R6411:Zfp758	UTSW	17	22,594,075 (GRCm39)	missense	possibly damaging	0.85
R6501:Zfp758	UTSW	17	22,590,978 (GRCm39)	intron	probably benign
R6805:Zfp758	UTSW	17	22,580,650 (GRCm39)	missense	probably benign	0.00
R7076:Zfp758	UTSW	17	22,594,137 (GRCm39)	missense	probably benign	0.11
R7147:Zfp758	UTSW	17	22,594,981 (GRCm39)	missense	possibly damaging	0.75
R7170:Zfp758	UTSW	17	22,594,116 (GRCm39)	nonsense	probably null
R7572:Zfp758	UTSW	17	22,593,872 (GRCm39)	missense	possibly damaging	0.61
R7593:Zfp758	UTSW	17	22,593,939 (GRCm39)	missense	probably damaging	0.98
R7699:Zfp758	UTSW	17	22,594,646 (GRCm39)	nonsense	probably null
R7858:Zfp758	UTSW	17	22,594,359 (GRCm39)	missense	probably benign	0.02
R9377:Zfp758	UTSW	17	22,593,925 (GRCm39)	missense	probably benign	0.35
R9717:Zfp758	UTSW	17	22,593,829 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- GAGCTCTGCCCTTGAGAATG -3'
(R):5'- GGATTCCTTGATTTAGACCAATGC -3'

Sequencing Primer
(F):5'- GCCCTTGAGAATGGCTAATTTACC -3'
(R):5'- CCTTGATTTAGACCAATGCTAGAAC -3'

Posted On

2016-07-22