Mutagenetix > Incidental Mutation

Incidental Mutation 'R4019:Zfp777'

312679

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

MMRRC Submission

040953-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R4019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48024188-48048911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48042112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 296 (Q296L)

Ref Sequence

ENSEMBL: ENSMUSP00000093637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095944] [ENSMUST00000114583] [ENSMUST00000125385] [ENSMUST00000147281]

AlphaFold

B9EKF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095944
AA Change: Q296L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: Q296L

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: Q340L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: Q340L

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

probably benign
Transcript: ENSMUST00000125385

Predicted Effect

probably benign
Transcript: ENSMUST00000147281

Predicted Effect

unknown
Transcript: ENSMUST00000148362
AA Change: Q148L

SMART Domains

Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: Q148L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203645

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	C	9: 106,436,779	T61A	possibly damaging	Het
Ap4e1	C	T	2: 127,061,926	S916F	probably benign	Het
Brpf1	G	A	6: 113,310,282	R157Q	probably damaging	Het
Canx	A	T	11: 50,299,245	S429T	probably damaging	Het
Casz1	C	T	4: 148,932,878	P208L	probably benign	Het
Ctnnd1	C	T	2: 84,619,958	R306H	probably damaging	Het
Dip2c	T	C	13: 9,614,365	V909A	probably damaging	Het
Epg5	C	A	18: 78,030,450	Q2511K	probably damaging	Het
Ghitm	G	A	14: 37,130,694	A143V	probably damaging	Het
Gm884	A	G	11: 103,615,293	S1950P	probably benign	Het
Gramd3	T	C	18: 56,478,954		probably null	Het
Ifitm3	T	C	7: 141,009,859	T94A	possibly damaging	Het
Ift81	G	A	5: 122,593,129	T321M	probably benign	Het
Ikbkb	C	T	8: 22,671,712	V387I	probably benign	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lpar5	A	G	6: 125,081,675	N120D	probably damaging	Het
Lrrtm2	T	C	18: 35,212,870	I460V	possibly damaging	Het
Naip5	T	C	13: 100,223,375	E451G	probably benign	Het
Naip5	T	C	13: 100,223,394	I445V	probably benign	Het
Nbas	A	G	12: 13,482,519	R1743G	probably damaging	Het
Notch1	T	C	2: 26,481,142	T311A	probably benign	Het
Olfr1211	A	G	2: 88,929,736	I193T	probably benign	Het
Olfr552	T	C	7: 102,604,642	F96S	probably damaging	Het
Oplah	A	G	15: 76,297,276	Y1155H	probably damaging	Het
Pcnx	C	T	12: 81,918,244	T395I	probably damaging	Het
Pdgfb	A	C	15: 80,001,722	V108G	probably damaging	Het
Pdzd3	A	T	9: 44,250,820		probably null	Het
Prpf40b	T	C	15: 99,316,476	S846P	probably benign	Het
Ptprc	T	A	1: 138,078,516	H752L	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Scn3a	A	G	2: 65,525,951		probably benign	Het
Sco1	T	G	11: 67,064,020	S284A	probably benign	Het
Slc25a10	T	A	11: 120,497,439	M227K	probably damaging	Het
Sox8	A	G	17: 25,570,297	Y76H	probably damaging	Het
Spdya	A	C	17: 71,556,314	K19N	possibly damaging	Het
Syngap1	C	T	17: 26,952,341		probably benign	Het
Sytl3	T	C	17: 6,736,493	S326P	probably damaging	Het
Tbl3	A	G	17: 24,704,721	V239A	probably damaging	Het
Tenm2	T	C	11: 36,047,074	I1592V	probably benign	Het
Vmn2r109	T	A	17: 20,553,812	D427V	probably benign	Het
Vmn2r115	A	G	17: 23,360,043	K830R	probably damaging	Het
Vmn2r45	A	T	7: 8,471,581	L816*	probably null	Het
Zfp335	C	T	2: 164,901,460	R536H	probably damaging	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
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
R5819:Zfp777	UTSW	6	48037588	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'- GTTTGCCTTTTCCCAATACAGGAG -3'
(R):5'- AGGCAAGATGAGTCCTCCAC -3'

Sequencing Primer
(F):5'- ATACAGGAGCTGCTGTTCAC -3'
(R):5'- GCAGAATGTTGATAAGGCTCCCTAC -3'

Posted On

2015-04-30