Mutagenetix > Incidental Mutation

Incidental Mutation 'R9695:Zfp759'

729239

Institutional Source

Beutler Lab

Gene Symbol

Zfp759

Ensembl Gene

ENSMUSG00000057396

Gene Name

zinc finger protein 759

Synonyms

Rslcan-8

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67273040-67290468 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67287198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 250 (V250I)

Ref Sequence

ENSEMBL: ENSMUSP00000049650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052716] [ENSMUST00000224346]

AlphaFold

Q7M6X3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052716
AA Change: V250I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: V250I

Domain	Start	End	E-Value	Type
KRAB	5	65	1.6e-22	SMART
ZnF_C2H2	106	128	5.54e1	SMART
ZnF_C2H2	162	184	3.83e-2	SMART
ZnF_C2H2	190	212	1.82e-3	SMART
ZnF_C2H2	218	240	1.64e-1	SMART
ZnF_C2H2	246	268	1.67e-2	SMART
ZnF_C2H2	274	296	1.95e-3	SMART
ZnF_C2H2	302	324	1.84e-4	SMART
ZnF_C2H2	330	352	7.78e-3	SMART
ZnF_C2H2	358	380	1.6e-4	SMART
ZnF_C2H2	386	408	1.67e-2	SMART
ZnF_C2H2	414	436	4.87e-4	SMART
ZnF_C2H2	442	464	3.39e-3	SMART
ZnF_C2H2	498	520	2.57e-3	SMART
ZnF_C2H2	526	548	8.47e-4	SMART
ZnF_C2H2	554	576	2.02e-1	SMART
ZnF_C2H2	582	604	2.53e-2	SMART
ZnF_C2H2	610	632	4.79e-3	SMART
ZnF_C2H2	638	660	1.84e-4	SMART
ZnF_C2H2	666	688	1.36e-2	SMART
ZnF_C2H2	694	716	4.17e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224346

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,170,739 (GRCm39)	T1A		Het
Adgrl1	G	A	8: 84,665,060 (GRCm39)	R1249Q	probably damaging	Het
Apeh	G	A	9: 107,963,483 (GRCm39)	R580C	probably damaging	Het
Armc12	T	A	17: 28,749,993 (GRCm39)	C46S	probably benign	Het
Avpr1a	C	T	10: 122,284,845 (GRCm39)	R46C	probably damaging	Het
Cbln4	C	G	2: 171,879,469 (GRCm39)	G140R	probably damaging	Het
Ccdc89	A	G	7: 90,076,552 (GRCm39)	N254S	probably benign	Het
Cd96	T	A	16: 45,919,410 (GRCm39)	I204F	probably damaging	Het
Cel	G	T	2: 28,450,961 (GRCm39)	L101I	probably damaging	Het
Crtap	A	T	9: 114,215,378 (GRCm39)	Y170*	probably null	Het
Ctxn3	A	G	18: 57,610,185 (GRCm39)	M1V	probably null	Het
Cwf19l1	G	T	19: 44,101,425 (GRCm39)	H478N	probably damaging	Het
Dpysl3	A	T	18: 43,571,192 (GRCm39)	D27E	probably damaging	Het
Dsg1b	A	G	18: 20,532,389 (GRCm39)	T478A	probably damaging	Het
Dvl2	G	A	11: 69,899,976 (GRCm39)	R590Q	possibly damaging	Het
Elovl7	C	A	13: 108,416,242 (GRCm39)	Q211K	probably damaging	Het
Fech	A	G	18: 64,600,803 (GRCm39)	I233T	probably damaging	Het
Fsip2	A	T	2: 82,806,226 (GRCm39)	Q848H	probably benign	Het
Gna15	A	G	10: 81,359,752 (GRCm39)	C13R	probably damaging	Het
Gstt4	A	T	10: 75,657,072 (GRCm39)	S65T	probably benign	Het
Heatr1	T	C	13: 12,438,624 (GRCm39)	V1353A	probably damaging	Het
Hip1r	A	T	5: 124,139,916 (GRCm39)	K1006N	possibly damaging	Het
Hspg2	T	A	4: 137,265,701 (GRCm39)	V1804E	probably damaging	Het
Ifi206	T	C	1: 173,301,249 (GRCm39)	T810A	unknown	Het
Ighv1-69	T	C	12: 115,586,987 (GRCm39)	T49A	probably benign	Het
Il4i1	A	T	7: 44,489,033 (GRCm39)	D266V	probably damaging	Het
Itga3	A	T	11: 94,946,520 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,378,311 (GRCm39)	N1279S	probably damaging	Het
Madd	T	C	2: 90,992,929 (GRCm39)	T997A	probably benign	Het
Mal	C	T	2: 127,482,308 (GRCm39)	V32I	probably benign	Het
Map9	T	A	3: 82,284,292 (GRCm39)	S289T	probably benign	Het
Mmp15	G	T	8: 96,097,414 (GRCm39)	R461L	possibly damaging	Het
Nelfcd	T	A	2: 174,266,923 (GRCm39)	I395N	probably benign	Het
Neurog2	T	A	3: 127,427,694 (GRCm39)	V106E	probably damaging	Het
Nup160	T	A	2: 90,538,486 (GRCm39)	N761K	probably damaging	Het
Oasl1	G	A	5: 115,074,054 (GRCm39)	R321Q	probably damaging	Het
Oosp2	T	C	19: 11,628,994 (GRCm39)	T36A		Het
Or2a52	A	T	6: 43,144,510 (GRCm39)	I173L	probably benign	Het
Or7g22	A	G	9: 19,049,171 (GRCm39)	N294S	probably damaging	Het
Or8k30	T	C	2: 86,339,100 (GRCm39)	V99A	probably benign	Het
Or9s27	A	G	1: 92,516,595 (GRCm39)	D181G	probably benign	Het
Otx2	T	G	14: 48,899,952 (GRCm39)	S16R	probably damaging	Het
Phactr2	A	G	10: 13,349,908 (GRCm39)	S39P	unknown	Het
Piwil2	A	G	14: 70,627,349 (GRCm39)	Y797H	possibly damaging	Het
Plxna4	T	G	6: 32,183,056 (GRCm39)	Y949S	probably benign	Het
Prss35	A	G	9: 86,637,761 (GRCm39)	Y177C	probably damaging	Het
Rbm19	T	C	5: 120,335,986 (GRCm39)	I934T	probably damaging	Het
Rictor	T	G	15: 6,816,010 (GRCm39)	V1094G	probably benign	Het
Riok1	A	G	13: 38,242,676 (GRCm39)	T467A	possibly damaging	Het
Slc15a4	G	A	5: 127,694,400 (GRCm39)	R12W	possibly damaging	Het
Slc44a5	T	A	3: 153,956,588 (GRCm39)	I280K	probably damaging	Het
Slc9c1	T	C	16: 45,368,026 (GRCm39)	L205S	probably benign	Het
Slco2a1	A	G	9: 102,962,139 (GRCm39)	R604G	possibly damaging	Het
Slmap	T	A	14: 26,183,496 (GRCm39)	T296S	probably damaging	Het
Snrk	T	C	9: 121,995,640 (GRCm39)	V473A	probably benign	Het
Spart	A	G	3: 55,033,955 (GRCm39)	T394A	probably benign	Het
Stil	T	C	4: 114,881,378 (GRCm39)	S641P	probably damaging	Het
Syne1	A	G	10: 5,268,461 (GRCm39)	V2076A	probably benign	Het
Tcirg1	G	A	19: 3,952,360 (GRCm39)	A336V	probably null	Het
Tespa1	T	C	10: 130,198,285 (GRCm39)	S436P	probably benign	Het
Thumpd3	G	T	6: 113,024,622 (GRCm39)	R72L	possibly damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Vars1	A	G	17: 35,231,564 (GRCm39)	D696G	possibly damaging	Het
Vwa5b2	A	T	16: 20,422,975 (GRCm39)	H991L	probably benign	Het
Zfp160	A	G	17: 21,245,746 (GRCm39)	K99E	possibly damaging	Het
Zmym6	T	C	4: 127,016,340 (GRCm39)	V707A	probably benign	Het

Other mutations in Zfp759

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Zfp759	APN	13	67,287,658 (GRCm39)	missense	probably benign	0.25
IGL03131:Zfp759	APN	13	67,286,728 (GRCm39)	missense	probably damaging	1.00
IGL03218:Zfp759	APN	13	67,287,480 (GRCm39)	missense	probably benign	0.00
R0243:Zfp759	UTSW	13	67,286,877 (GRCm39)	missense	possibly damaging	0.66
R0319:Zfp759	UTSW	13	67,288,356 (GRCm39)	missense	probably benign	0.00
R0520:Zfp759	UTSW	13	67,285,419 (GRCm39)	missense	probably benign	0.29
R0961:Zfp759	UTSW	13	67,287,927 (GRCm39)	missense	probably benign	0.32
R1435:Zfp759	UTSW	13	67,286,830 (GRCm39)	missense	possibly damaging	0.73
R1649:Zfp759	UTSW	13	67,287,668 (GRCm39)	missense	probably benign	0.00
R1880:Zfp759	UTSW	13	67,287,276 (GRCm39)	missense	probably damaging	1.00
R2118:Zfp759	UTSW	13	67,287,578 (GRCm39)	unclassified	probably benign
R2170:Zfp759	UTSW	13	67,284,812 (GRCm39)	missense	possibly damaging	0.88
R3154:Zfp759	UTSW	13	67,286,719 (GRCm39)	missense	probably benign	0.20
R3551:Zfp759	UTSW	13	67,287,031 (GRCm39)	missense	probably benign	0.24
R4392:Zfp759	UTSW	13	67,287,707 (GRCm39)	nonsense	probably null
R4495:Zfp759	UTSW	13	67,286,989 (GRCm39)	splice site	probably null
R4736:Zfp759	UTSW	13	67,287,408 (GRCm39)	missense	probably damaging	1.00
R4882:Zfp759	UTSW	13	67,287,354 (GRCm39)	missense	probably damaging	1.00
R5717:Zfp759	UTSW	13	67,286,772 (GRCm39)	missense	probably damaging	1.00
R5921:Zfp759	UTSW	13	67,288,558 (GRCm39)	missense	probably damaging	1.00
R6247:Zfp759	UTSW	13	67,288,524 (GRCm39)	missense	probably benign	0.00
R6381:Zfp759	UTSW	13	67,286,969 (GRCm39)	nonsense	probably null
R6427:Zfp759	UTSW	13	67,287,162 (GRCm39)	splice site	probably null
R6567:Zfp759	UTSW	13	67,287,150 (GRCm39)	missense	probably benign	0.34
R7140:Zfp759	UTSW	13	67,288,177 (GRCm39)	missense	possibly damaging	0.92
R7731:Zfp759	UTSW	13	67,287,690 (GRCm39)	missense	possibly damaging	0.82
R8504:Zfp759	UTSW	13	67,286,947 (GRCm39)	missense	probably benign	0.00
R8770:Zfp759	UTSW	13	67,288,417 (GRCm39)	missense	probably damaging	1.00
R9250:Zfp759	UTSW	13	67,288,461 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp759	UTSW	13	67,284,872 (GRCm39)	missense	probably damaging	0.98
Z1177:Zfp759	UTSW	13	67,288,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGGTTGGCAAGTCCTTTTGTTT -3'
(R):5'- TGGAGAGTGGAAGGCCTT -3'

Sequencing Primer
(F):5'- AAGTATGTGCCAAGGCCTTC -3'
(R):5'- AGTTCCCTTGTGTACACGAAG -3'

Posted On

2022-10-06