Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Zfp759'

209064

Institutional Source

Beutler Lab

Gene Symbol

Zfp759

Ensembl Gene

ENSMUSG00000057396

Gene Name

zinc finger protein 759

Synonyms

Rslcan-8

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67273040-67290468 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67287276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 276 (C276R)

Ref Sequence

ENSEMBL: ENSMUSP00000049650 (fasta)

Gene Model

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

AlphaFold

Q7M6X3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052716
AA Change: C276R

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

SMART Domains

Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: C276R

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

noncoding transcript
Transcript: ENSMUST00000223605

Predicted Effect

probably benign
Transcript: ENSMUST00000224346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224426

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
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
R9695:Zfp759	UTSW	13	67,287,198 (GRCm39)	missense	possibly damaging	0.94
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'- GAAGAGGTTGGCAAGTCCTTTT -3'
(R):5'- GGAGAGTGGAAGGCCTTTC -3'

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

Posted On

2014-06-30