Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Zfp758'

478674

Institutional Source

Beutler Lab

Gene Symbol

Zfp758

Ensembl Gene

ENSMUSG00000044501

Gene Name

zinc finger protein 758

Synonyms

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

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

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22580434-22596262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22592712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 40 (D40G)

Ref Sequence

ENSEMBL: ENSMUSP00000072298 (fasta)

Gene Model

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

AlphaFold

E9QAA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072477
AA Change: D40G

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

SMART Domains

Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: D40G

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 damaging
Transcript: ENSMUST00000088765
AA Change: D40G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: D40G

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 damaging
Transcript: ENSMUST00000121315
AA Change: D40G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: D40G

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 damaging
Transcript: ENSMUST00000149699
AA Change: D72G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: D72G

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Hgfac	T	C	5: 35,201,739 (GRCm39)	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	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
R5303:Zfp758	UTSW	17	22,593,842 (GRCm39)	missense	probably benign	0.05
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
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'- AGCAGCAATGCTTAACTTCTG -3'
(R):5'- TGGTTCGTCATGTAACAAATGG -3'

Sequencing Primer
(F):5'- ATTGCACTGTAGAAGATGTTTGTTC -3'
(R):5'- TCTGGGAGTCTCTAGACA -3'

Posted On

2017-06-26