Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Zfp759'

268358

Institutional Source

Beutler Lab

Gene Symbol

Zfp759

Ensembl Gene

ENSMUSG00000057396

Gene Name

zinc finger protein 759

Synonyms

Rslcan-8

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

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

Stock #

R3551 (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 67287031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000049650 (fasta)

Gene Model

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

AlphaFold

Q7M6X3

Predicted Effect

probably benign
Transcript: ENSMUST00000052716
AA Change: V194A

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: V194A

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Adam24	G	C	8: 41,132,632 (GRCm39)	W33C	probably benign	Het
Adgrl2	A	T	3: 148,564,599 (GRCm39)	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329 (GRCm39)	N17I	probably benign	Het
Bicra	T	A	7: 15,713,658 (GRCm39)	Q848L	probably benign	Het
C4b	T	C	17: 34,960,846 (GRCm39)	E240G	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Clca3a2	T	A	3: 144,508,842 (GRCm39)	N50I	probably damaging	Het
Dcaf7	A	G	11: 105,945,622 (GRCm39)	T324A	probably benign	Het
Dnah12	G	A	14: 26,492,929 (GRCm39)	R1230H	probably benign	Het
Dsg4	G	A	18: 20,584,813 (GRCm39)	V176M	probably damaging	Het
Ect2l	A	G	10: 18,039,141 (GRCm39)	I339T	probably damaging	Het
Edc4	A	T	8: 106,612,126 (GRCm39)	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,992,409 (GRCm39)	V401E	probably damaging	Het
Gm3269	T	A	14: 16,033,003 (GRCm39)	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,275,269 (GRCm39)		noncoding transcript	Het
Gm4922	A	T	10: 18,660,244 (GRCm39)	N159K	probably benign	Het
Gm5134	G	T	10: 75,836,281 (GRCm39)	A421S	probably benign	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,870,560 (GRCm39)	V288A	probably benign	Het
Kng2	A	G	16: 22,830,745 (GRCm39)		probably null	Het
Lrfn1	T	C	7: 28,159,479 (GRCm39)	L466P	possibly damaging	Het
Magi1	T	A	6: 93,676,610 (GRCm39)	K916N	probably damaging	Het
Mms19	T	C	19: 41,938,237 (GRCm39)	T720A	probably benign	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,326,643 (GRCm39)	M43L	probably benign	Het
Nup43	A	G	10: 7,550,778 (GRCm39)	D216G	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Pear1	A	G	3: 87,665,439 (GRCm39)	F145L	probably benign	Het
Pgap1	A	G	1: 54,569,302 (GRCm39)	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,985,963 (GRCm39)		probably null	Het
Ptpn12	T	C	5: 21,194,047 (GRCm39)	K742E	possibly damaging	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,592,804 (GRCm39)	T138S	probably benign	Het
Slc4a2	C	T	5: 24,635,099 (GRCm39)	T168M	probably benign	Het
Slco1a7	T	C	6: 141,654,322 (GRCm39)	K647E	probably benign	Het
Spice1	G	T	16: 44,178,232 (GRCm39)	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214 (GRCm38)	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,892,756 (GRCm39)	D103G	probably damaging	Het
Ubap2l	G	T	3: 89,922,758 (GRCm39)	T766N	unknown	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	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
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'- AGAGGTTGGCAAGTCCTTTTG -3'
(R):5'- TGGAGAGTGGAAGGCCTT -3'

Sequencing Primer
(F):5'- TACAAGTATGAAACATGTAGCAAGGC -3'
(R):5'- GCCACATACTTCACACTTGTAGGG -3'

Posted On

2015-02-19