Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Zfp759'

174121

Institutional Source

Beutler Lab

Gene Symbol

Zfp759

Ensembl Gene

ENSMUSG00000057396

Gene Name

zinc finger protein 759

Synonyms

Rslcan-8

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67121660-67141787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67139604 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 406 (N406K)

Ref Sequence

ENSEMBL: ENSMUSP00000049650 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052716
AA Change: N406K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049650
Gene: ENSMUSG00000057396
AA Change: N406K

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: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het

Other mutations in Zfp759

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Zfp759	APN	13	67139594	missense	probably benign	0.25
IGL03131:Zfp759	APN	13	67138664	missense	probably damaging	1.00
IGL03218:Zfp759	APN	13	67139416	missense	probably benign	0.00
R0243:Zfp759	UTSW	13	67138813	missense	possibly damaging	0.66
R0319:Zfp759	UTSW	13	67140292	missense	probably benign	0.00
R0520:Zfp759	UTSW	13	67137355	missense	probably benign	0.29
R0961:Zfp759	UTSW	13	67139863	missense	probably benign	0.32
R1435:Zfp759	UTSW	13	67138766	missense	possibly damaging	0.73
R1880:Zfp759	UTSW	13	67139212	missense	probably damaging	1.00
R2118:Zfp759	UTSW	13	67139514	unclassified	probably benign
R2170:Zfp759	UTSW	13	67136748	missense	possibly damaging	0.88
R3154:Zfp759	UTSW	13	67138655	missense	probably benign	0.20
R3551:Zfp759	UTSW	13	67138967	missense	probably benign	0.24
R4392:Zfp759	UTSW	13	67139643	nonsense	probably null
R4495:Zfp759	UTSW	13	67138925	splice site	probably null
R4736:Zfp759	UTSW	13	67139344	missense	probably damaging	1.00
R4882:Zfp759	UTSW	13	67139290	missense	probably damaging	1.00
R5717:Zfp759	UTSW	13	67138708	missense	probably damaging	1.00
R5921:Zfp759	UTSW	13	67140494	missense	probably damaging	1.00
R6247:Zfp759	UTSW	13	67140460	missense	probably benign	0.00
R6381:Zfp759	UTSW	13	67138905	nonsense	probably null
R6427:Zfp759	UTSW	13	67139098	splice site	probably null
R6567:Zfp759	UTSW	13	67139086	missense	probably benign	0.34
R7140:Zfp759	UTSW	13	67140113	missense	possibly damaging	0.92
R7731:Zfp759	UTSW	13	67139626	missense	possibly damaging	0.82
R8504:Zfp759	UTSW	13	67138883	missense	probably benign	0.00
Z1176:Zfp759	UTSW	13	67136808	missense	probably damaging	0.98
Z1177:Zfp759	UTSW	13	67140148	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGTGAAGAGGTTGGCAAGTCCT -3'
(R):5'- ATGGAGACCAGAAGACCTTTCTACCTAC -3'

Sequencing Primer
(F):5'- gctttccgctctccatcatc -3'
(R):5'- CTACCTACTTTACACTTGGAGGG -3'

Posted On

2014-04-24