Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Zfp777'

564413

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

2500002G23Rik

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R7258 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

48001122-48025845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48002731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 453 (E453G)

Ref Sequence

ENSEMBL: ENSMUSP00000093637 (fasta)

Gene Model

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

AlphaFold

B9EKF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000095944
AA Change: E453G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: E453G

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: E497G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: E497G

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: ENSMUST00000148362

SMART Domains

Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Ccr5	A	T	9: 123,925,311 (GRCm39)	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
L1td1	C	T	4: 98,625,101 (GRCm39)	A432V	probably benign	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or51af1	G	C	7: 103,141,796 (GRCm39)	C96W	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Sox30	C	A	11: 45,871,379 (GRCm39)	A78E	unknown	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgfbr2	A	T	9: 115,958,898 (GRCm39)	I172N	probably damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	possibly damaging	Het

Other mutations in Zfp777

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01530:Zfp777	APN	6	48,020,918 (GRCm39)	missense	probably damaging	1.00
IGL01916:Zfp777	APN	6	48,002,276 (GRCm39)	missense	probably damaging	1.00
IGL01959:Zfp777	APN	6	48,021,275 (GRCm39)	missense	probably benign
IGL02167:Zfp777	APN	6	48,021,460 (GRCm39)	missense	probably damaging	0.98
IGL03150:Zfp777	APN	6	48,021,059 (GRCm39)	missense	probably damaging	1.00
R0238:Zfp777	UTSW	6	48,001,903 (GRCm39)	missense	probably damaging	0.99
R0238:Zfp777	UTSW	6	48,001,903 (GRCm39)	missense	probably damaging	0.99
R0372:Zfp777	UTSW	6	48,021,410 (GRCm39)	missense	possibly damaging	0.62
R0762:Zfp777	UTSW	6	48,006,294 (GRCm39)	missense	probably damaging	1.00
R1300:Zfp777	UTSW	6	48,002,704 (GRCm39)	missense	probably benign	0.43
R1727:Zfp777	UTSW	6	48,020,824 (GRCm39)	missense	probably damaging	0.99
R1906:Zfp777	UTSW	6	48,018,995 (GRCm39)	missense	probably damaging	0.99
R2047:Zfp777	UTSW	6	48,021,280 (GRCm39)	missense	probably benign
R2097:Zfp777	UTSW	6	48,021,176 (GRCm39)	missense	probably benign	0.08
R2211:Zfp777	UTSW	6	48,020,819 (GRCm39)	missense	possibly damaging	0.79
R2898:Zfp777	UTSW	6	48,002,594 (GRCm39)	missense	probably damaging	0.97
R3123:Zfp777	UTSW	6	48,006,050 (GRCm39)	unclassified	probably benign
R3832:Zfp777	UTSW	6	48,021,149 (GRCm39)	missense	probably benign	0.00
R4019:Zfp777	UTSW	6	48,019,046 (GRCm39)	missense	probably damaging	1.00
R4077:Zfp777	UTSW	6	48,002,456 (GRCm39)	missense	probably benign
R4471:Zfp777	UTSW	6	48,019,041 (GRCm39)	missense	probably damaging	1.00
R5021:Zfp777	UTSW	6	48,019,061 (GRCm39)	missense	probably damaging	0.99
R5030:Zfp777	UTSW	6	48,014,601 (GRCm39)	missense	probably damaging	0.99
R5819:Zfp777	UTSW	6	48,014,522 (GRCm39)	missense	probably damaging	0.99
R6544:Zfp777	UTSW	6	48,021,419 (GRCm39)	missense	probably damaging	0.98
R6736:Zfp777	UTSW	6	48,001,790 (GRCm39)	missense	probably damaging	0.99
R6971:Zfp777	UTSW	6	48,001,625 (GRCm39)	missense	probably damaging	1.00
R7240:Zfp777	UTSW	6	48,021,383 (GRCm39)	missense	probably benign	0.00
R7586:Zfp777	UTSW	6	48,006,152 (GRCm39)	missense	probably benign	0.33
R7833:Zfp777	UTSW	6	48,002,072 (GRCm39)	missense	probably damaging	0.99
R7947:Zfp777	UTSW	6	48,001,645 (GRCm39)	missense	probably damaging	1.00
R8136:Zfp777	UTSW	6	48,021,559 (GRCm39)	missense	probably benign	0.25
R8151:Zfp777	UTSW	6	48,006,075 (GRCm39)	nonsense	probably null
R8348:Zfp777	UTSW	6	48,006,101 (GRCm39)	missense	probably damaging	0.99
R8448:Zfp777	UTSW	6	48,006,101 (GRCm39)	missense	probably damaging	0.99
R8942:Zfp777	UTSW	6	48,006,125 (GRCm39)	missense	probably benign	0.25
R8983:Zfp777	UTSW	6	48,006,158 (GRCm39)	missense	probably damaging	1.00
R9205:Zfp777	UTSW	6	48,002,521 (GRCm39)	missense	probably benign	0.07
R9397:Zfp777	UTSW	6	48,021,190 (GRCm39)	missense	probably benign	0.00
R9562:Zfp777	UTSW	6	48,021,580 (GRCm39)	missense	possibly damaging	0.84
R9565:Zfp777	UTSW	6	48,021,580 (GRCm39)	missense	possibly damaging	0.84
RF008:Zfp777	UTSW	6	48,018,982 (GRCm39)	nonsense	probably null
Z1177:Zfp777	UTSW	6	48,002,168 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGTTCCCACGGTTCTCAC -3'
(R):5'- GACAGGAAGCTAGATTTGCCAG -3'

Sequencing Primer
(F):5'- ATGCGTATGCCCATGAATGC -3'
(R):5'- CTAGATTTGCCAGAAGGAGGAATGTG -3'

Posted On

2019-06-26