Mutagenetix > Incidental Mutation

Incidental Mutation 'R8136:Zfp777'

632255

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R8136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48024188-48048911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48044625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 21 (R21L)

Ref Sequence

ENSEMBL: ENSMUSP00000093637 (fasta)

Gene Model

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

AlphaFold

B9EKF4

Predicted Effect

probably benign
Transcript: ENSMUST00000095944
AA Change: R21L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: R21L

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 benign
Transcript: ENSMUST00000114583
AA Change: R65L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: R65L

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
AA Change: R21L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000147281
AA Change: R21L

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

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: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.7%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,248,397	M2462L	probably benign	Het
Aptx	A	G	4: 40,688,107		probably null	Het
Bmpr1b	A	G	3: 141,856,382	I348T	probably damaging	Het
Btnl1	T	A	17: 34,380,040		probably null	Het
Col27a1	T	A	4: 63,283,953	D960E	probably benign	Het
Crygn	G	T	5: 24,751,092	R172S	probably benign	Het
Cyp26a1	T	C	19: 37,701,206	I450T	probably benign	Het
Emc2	A	G	15: 43,511,806	Y233C	probably benign	Het
Esyt2	C	A	12: 116,363,459	T549K	probably benign	Het
Fam71e1	T	C	7: 44,500,280	F142L	probably damaging	Het
Gatm	T	C	2: 122,595,537	D411G	probably damaging	Het
Gpr65	T	C	12: 98,275,156	Y23H	probably damaging	Het
Itpr1	A	G	6: 108,438,360	R1752G	probably benign	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Mcm9	A	G	10: 53,611,343	*543Q	probably null	Het
Mfsd2a	A	T	4: 122,951,867	C164S	probably benign	Het
Mta1	C	A	12: 113,131,678	R484S	probably damaging	Het
Nlrp9a	T	G	7: 26,557,253	F99V	probably benign	Het
Notch2	G	A	3: 98,124,221	C1137Y	probably damaging	Het
Olfr575	A	T	7: 102,955,241	M120K	probably damaging	Het
Pcnx	A	G	12: 81,918,006	T316A	probably benign	Het
Phf11a	A	G	14: 59,277,569	V221A	probably benign	Het
Pigb	A	G	9: 73,022,320	L327P	possibly damaging	Het
Rab3c	A	T	13: 110,181,020	Y110*	probably null	Het
Sdk2	G	A	11: 113,851,713	T790M	probably damaging	Het
Slc22a2	C	T	17: 12,606,030	P260S	probably damaging	Het
Sppl2a	T	C	2: 126,913,281		probably null	Het
Tmem189	A	C	2: 167,644,959	Y167D	probably benign	Het
Tnn	T	A	1: 160,107,060	Q1261L	probably damaging	Het
Treml4	C	A	17: 48,264,717	Y49*	probably null	Het
Ttc37	A	G	13: 76,113,103	K131R	probably benign	Het
Ubr3	T	C	2: 70,021,179	I1827T	probably damaging	Het
Vrtn	C	T	12: 84,650,035	R520C	probably damaging	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Wls	C	A	3: 159,873,124	Q108K	probably damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp39	A	T	11: 58,891,402	V178D	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
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
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
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'- GTCTTGCTCAGAAGTGGCAG -3'
(R):5'- TCTTCTTGCTTCCAAAACTGAGAAC -3'

Sequencing Primer
(F):5'- TCTTGCTCAGAAGTGGCAGGATAC -3'
(R):5'- CTGAGAACCTTTTAGTGTGAACGC -3'

Posted On

2020-06-30