Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Zfp777'

449218

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R5819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48024188-48048911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48037588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 395 (E395K)

Ref Sequence

ENSEMBL: ENSMUSP00000110230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095944] [ENSMUST00000114583]

AlphaFold

B9EKF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095944
AA Change: E351K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: E351K

Domain	Start	End	E-Value	Type
Pfam:DUF3669	177	256	4.3e-12	PFAM
KRAB	284	344	1.6e-29	SMART
low complexity region	422	433	N/A	INTRINSIC
coiled coil region	454	477	N/A	INTRINSIC
low complexity region	489	505	N/A	INTRINSIC
low complexity region	520	532	N/A	INTRINSIC
low complexity region	539	555	N/A	INTRINSIC
ZnF_C2H2	557	579	1.2e-5	SMART
ZnF_C2H2	585	607	3.8e-5	SMART
ZnF_C2H2	646	668	1.1e-6	SMART
ZnF_C2H2	674	696	4.6e-6	SMART
ZnF_C2H2	704	726	3.2e-7	SMART
ZnF_C2H2	732	754	3.3e-6	SMART
ZnF_C2H2	760	782	8.4e-6	SMART
ZnF_C2H2	788	810	4.9e-5	SMART
ZnF_C2H2	816	838	1.1e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114583
AA Change: E395K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: E395K

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:DUF3669	231	298	4.7e-12	PFAM
KRAB	328	388	3.96e-27	SMART
low complexity region	466	477	N/A	INTRINSIC
coiled coil region	498	521	N/A	INTRINSIC
low complexity region	533	549	N/A	INTRINSIC
low complexity region	564	576	N/A	INTRINSIC
low complexity region	583	599	N/A	INTRINSIC
ZnF_C2H2	601	623	2.95e-3	SMART
ZnF_C2H2	629	651	8.94e-3	SMART
ZnF_C2H2	690	712	2.43e-4	SMART
ZnF_C2H2	718	740	1.12e-3	SMART
ZnF_C2H2	748	770	7.49e-5	SMART
ZnF_C2H2	776	798	7.9e-4	SMART
ZnF_C2H2	804	826	1.95e-3	SMART
ZnF_C2H2	832	854	1.18e-2	SMART
ZnF_C2H2	860	882	2.53e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000148362
AA Change: E203K

SMART Domains

Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: E203K

Domain	Start	End	E-Value	Type
Pfam:DUF3669	40	107	6.1e-13	PFAM
KRAB	137	197	3.96e-27	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 37,048,600	M4863L	probably benign	Het
Abca4	A	T	3: 122,136,981	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,351,621	N673D	possibly damaging	Het
Avil	T	C	10: 127,009,998	F372S	probably damaging	Het
Bod1l	T	A	5: 41,832,605	E258D	probably benign	Het
Ccdc129	A	T	6: 55,897,891	K275N	probably benign	Het
Chek1	T	A	9: 36,710,405	H420L	probably benign	Het
Cyfip1	A	G	7: 55,879,151	I260M	probably damaging	Het
Dclk1	G	A	3: 55,489,864	V524I	probably damaging	Het
Efr3b	T	C	12: 3,992,965	M102V	probably benign	Het
Erc2	T	A	14: 28,141,369	I517N	probably damaging	Het
Fubp1	T	C	3: 152,220,553	I305T	probably damaging	Het
Galc	T	A	12: 98,216,261	D443V	probably benign	Het
Galnt4	T	A	10: 99,110,030	I539N	probably damaging	Het
Gm17093	G	T	14: 44,521,529	M169I	unknown	Het
Gm4858	A	G	3: 93,073,732	Y19C	probably damaging	Het
Htra1	T	C	7: 130,981,739	F363S	probably damaging	Het
Klhdc8b	G	A	9: 108,451,062	P64S	probably benign	Het
Kmt2c	A	G	5: 25,409,132		probably null	Het
Mettl21c	T	G	1: 44,009,722	K222Q	probably damaging	Het
Mga	A	C	2: 119,941,263	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,801,512	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,968,690	A26S	probably benign	Het
Naaladl1	A	G	19: 6,109,654	N372D	possibly damaging	Het
Olfr1275	A	T	2: 111,230,959	I278N	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
Osmr	C	A	15: 6,815,787	V833L	probably benign	Het
Phf14	A	G	6: 11,997,252		probably null	Het
Pjvk	A	G	2: 76,658,369	I295V	probably benign	Het
Plppr4	T	A	3: 117,325,864	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,585,672	S110P	probably benign	Het
Ptprq	T	A	10: 107,719,883		probably benign	Het
Rarb	T	G	14: 16,443,820	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,981,602		probably null	Het
Ruvbl1	A	C	6: 88,483,115		probably null	Het
S1pr1	G	T	3: 115,712,140	C268*	probably null	Het
Sbk3	T	C	7: 4,969,997	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Soga3	A	T	10: 29,197,273	M854L	probably benign	Het
Tas2r119	T	C	15: 32,177,306	L6P	probably damaging	Het
Tcp11	A	T	17: 28,069,236	F339L	probably damaging	Het
Tmprss5	T	A	9: 49,114,479		probably null	Het
Trnau1ap	A	G	4: 132,325,210		probably benign	Het
Trp53bp1	G	A	2: 121,208,392	R1397*	probably null	Het
Ubqln3	G	A	7: 104,141,467	P472L	probably benign	Het
Vmn2r13	T	A	5: 109,174,100	M244L	possibly damaging	Het
Zfyve27	A	G	19: 42,183,496	S156G	probably benign	Het

Other mutations in Zfp777

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Zfp777	APN	6	48043984	missense	probably damaging	1.00
IGL01916:Zfp777	APN	6	48025342	missense	probably damaging	1.00
IGL01959:Zfp777	APN	6	48044341	missense	probably benign
IGL02167:Zfp777	APN	6	48044526	missense	probably damaging	0.98
IGL03150:Zfp777	APN	6	48044125	missense	probably damaging	1.00
R0238:Zfp777	UTSW	6	48024969	missense	probably damaging	0.99
R0238:Zfp777	UTSW	6	48024969	missense	probably damaging	0.99
R0372:Zfp777	UTSW	6	48044476	missense	possibly damaging	0.62
R0762:Zfp777	UTSW	6	48029360	missense	probably damaging	1.00
R1300:Zfp777	UTSW	6	48025770	missense	probably benign	0.43
R1727:Zfp777	UTSW	6	48043890	missense	probably damaging	0.99
R1906:Zfp777	UTSW	6	48042061	missense	probably damaging	0.99
R2047:Zfp777	UTSW	6	48044346	missense	probably benign
R2097:Zfp777	UTSW	6	48044242	missense	probably benign	0.08
R2211:Zfp777	UTSW	6	48043885	missense	possibly damaging	0.79
R2898:Zfp777	UTSW	6	48025660	missense	probably damaging	0.97
R3123:Zfp777	UTSW	6	48029116	unclassified	probably benign
R3832:Zfp777	UTSW	6	48044215	missense	probably benign	0.00
R4019:Zfp777	UTSW	6	48042112	missense	probably damaging	1.00
R4077:Zfp777	UTSW	6	48025522	missense	probably benign
R4471:Zfp777	UTSW	6	48042107	missense	probably damaging	1.00
R5021:Zfp777	UTSW	6	48042127	missense	probably damaging	0.99
R5030:Zfp777	UTSW	6	48037667	missense	probably damaging	0.99
R6544:Zfp777	UTSW	6	48044485	missense	probably damaging	0.98
R6736:Zfp777	UTSW	6	48024856	missense	probably damaging	0.99
R6971:Zfp777	UTSW	6	48024691	missense	probably damaging	1.00
R7240:Zfp777	UTSW	6	48044449	missense	probably benign	0.00
R7258:Zfp777	UTSW	6	48025797	missense	probably damaging	0.99
R7586:Zfp777	UTSW	6	48029218	missense	probably benign	0.33
R7833:Zfp777	UTSW	6	48025138	missense	probably damaging	0.99
R7947:Zfp777	UTSW	6	48024711	missense	probably damaging	1.00
R8136:Zfp777	UTSW	6	48044625	missense	probably benign	0.25
R8151:Zfp777	UTSW	6	48029141	nonsense	probably null
R8348:Zfp777	UTSW	6	48029167	missense	probably damaging	0.99
R8448:Zfp777	UTSW	6	48029167	missense	probably damaging	0.99
R8942:Zfp777	UTSW	6	48029191	missense	probably benign	0.25
R8983:Zfp777	UTSW	6	48029224	missense	probably damaging	1.00
R9205:Zfp777	UTSW	6	48025587	missense	probably benign	0.07
R9397:Zfp777	UTSW	6	48044256	missense	probably benign	0.00
R9562:Zfp777	UTSW	6	48044646	missense	possibly damaging	0.84
R9565:Zfp777	UTSW	6	48044646	missense	possibly damaging	0.84
RF008:Zfp777	UTSW	6	48042048	nonsense	probably null
Z1177:Zfp777	UTSW	6	48025234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTAACTTCCTGCAGGCCTC -3'
(R):5'- GAGGTGAATACTTGCCCGTTTC -3'

Sequencing Primer
(F):5'- CCTTCCTGCAGAGCTTGATAC -3'
(R):5'- TTGCCAGCATAGCCAGTC -3'

Posted On

2016-12-20