Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Zfp777'

528410

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

2500002G23Rik

MMRRC Submission

044854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R6736 (G1)

Quality Score

154.008

Status

Not validated

Chromosome

Chromosomal Location

48001122-48025845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48001790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 811 (K811Q)

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: K767Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: K767Q

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: K811Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: K811Q

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,211,100 (GRCm39)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,349,909 (GRCm39)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,415,058 (GRCm39)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,129,664 (GRCm39)	V340I	probably benign	Het
Acox3	T	A	5: 35,746,198 (GRCm39)		probably null	Het
Acsl6	A	C	11: 54,215,992 (GRCm39)	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,260,484 (GRCm39)	H898Q	probably damaging	Het
Agl	A	G	3: 116,575,329 (GRCm39)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,558,634 (GRCm39)	M31K	probably null	Het
Astn1	T	C	1: 158,338,718 (GRCm39)		probably null	Het
Atp8a1	G	T	5: 67,824,960 (GRCm39)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,746,456 (GRCm39)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,117,676 (GRCm39)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,357,403 (GRCm39)	A8E	possibly damaging	Het
Brwd1	A	T	16: 95,869,772 (GRCm39)	I85N	probably damaging	Het
Catspere2	T	A	1: 177,845,278 (GRCm39)	Y99*	probably null	Het
Ccdc24	T	A	4: 117,727,732 (GRCm39)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 140,852,444 (GRCm39)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,199,887 (GRCm39)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,052,626 (GRCm39)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,186,219 (GRCm39)	S474A	probably benign	Het
Cutal	A	G	2: 34,778,149 (GRCm39)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,227,354 (GRCm39)	S258A	possibly damaging	Het
Dek	C	T	13: 47,252,866 (GRCm39)	V180M	probably damaging	Het
Dspp	C	A	5: 104,326,041 (GRCm39)	D801E	unknown	Het
Egflam	T	C	15: 7,249,206 (GRCm39)	T871A	probably damaging	Het
Erbin	A	T	13: 103,971,274 (GRCm39)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,532,475 (GRCm39)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,778,953 (GRCm39)	G304V	probably damaging	Het
Eya2	C	A	2: 165,557,957 (GRCm39)	S184R	possibly damaging	Het
Fhod1	G	A	8: 106,064,522 (GRCm39)		probably benign	Het
G6pc3	A	G	11: 102,084,496 (GRCm39)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,432,995 (GRCm39)	D318G	probably benign	Het
Gm10300	T	C	4: 131,802,246 (GRCm39)		probably benign	Het
Gm11937	A	G	11: 99,500,900 (GRCm39)	V39A	probably damaging	Het
Gnas	T	C	2: 174,176,044 (GRCm39)	M60T	probably damaging	Het
Grk5	G	T	19: 60,879,064 (GRCm39)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,059,981 (GRCm39)	L221P	probably damaging	Het
Hddc3	G	A	7: 79,992,944 (GRCm39)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,415,788 (GRCm39)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,863,948 (GRCm39)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,244,912 (GRCm39)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,226,668 (GRCm39)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,038,293 (GRCm39)	L1013S	probably damaging	Het
Kctd21	C	T	7: 96,997,291 (GRCm39)	R255W	probably damaging	Het
Krt18	T	A	15: 101,939,204 (GRCm39)	Y263N	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp1	G	A	11: 57,933,473 (GRCm39)		probably null	Het
Lmnb1	A	G	18: 56,861,541 (GRCm39)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,278,555 (GRCm39)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,679,008 (GRCm39)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,017,750 (GRCm39)		probably null	Het
Mafa	C	A	15: 75,619,629 (GRCm39)	G48V	unknown	Het
Mboat4	T	C	8: 34,591,675 (GRCm39)	S371P	possibly damaging	Het
Mei4	A	T	9: 81,907,677 (GRCm39)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,845,054 (GRCm39)	D219G	probably benign	Het
Msl2	A	G	9: 100,978,201 (GRCm39)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,429,003 (GRCm39)	R2358M	probably null	Het
Myh10	A	G	11: 68,636,165 (GRCm39)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,822,352 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,350,298 (GRCm39)	T2281A	probably benign	Het
Odad2	C	A	18: 7,223,586 (GRCm39)	V486F	probably damaging	Het
Or12j4	T	C	7: 140,046,800 (GRCm39)	S229P	probably damaging	Het
Or12j4	G	T	7: 140,046,834 (GRCm39)	C240F	probably damaging	Het
Or1e1c	G	T	11: 73,266,402 (GRCm39)	V276F	probably benign	Het
Or4q3	A	T	14: 50,582,905 (GRCm39)	N300K	probably damaging	Het
Or5an10	G	A	19: 12,275,936 (GRCm39)	Q187*	probably null	Het
Or5d20-ps1	C	A	2: 87,931,947 (GRCm39)	C128F	probably benign	Het
Or8c17	T	A	9: 38,179,866 (GRCm39)	I19N	probably damaging	Het
Or8g30	A	G	9: 39,230,089 (GRCm39)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,121,899 (GRCm39)	S283T	probably benign	Het
Pcnx2	G	T	8: 126,479,056 (GRCm39)		probably null	Het
Piwil4	A	G	9: 14,627,119 (GRCm39)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,066,974 (GRCm39)	P277L	probably benign	Het
Rgs12	A	G	5: 35,180,436 (GRCm39)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,267,173 (GRCm39)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 21,113,222 (GRCm39)	H433Q	probably benign	Het
Safb	C	A	17: 56,913,023 (GRCm39)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,867,854 (GRCm39)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,635,191 (GRCm39)	T408S	possibly damaging	Het
Six5	G	A	7: 18,828,916 (GRCm39)	V119M	possibly damaging	Het
Slc6a16	C	T	7: 44,908,452 (GRCm39)	P11S	possibly damaging	Het
Smg1	A	G	7: 117,756,389 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,515,274 (GRCm39)	I420F	probably benign	Het
Sptb	T	C	12: 76,659,954 (GRCm39)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,299,761 (GRCm39)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,511,953 (GRCm39)	E183G	probably benign	Het
Taf1d	T	C	9: 15,219,119 (GRCm39)		probably null	Het
Tapbp	T	C	17: 34,138,931 (GRCm39)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm39)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,450,389 (GRCm39)	T355A	probably benign	Het
Usp16	T	G	16: 87,267,285 (GRCm39)	V225G	probably damaging	Het
Utrn	A	G	10: 12,497,047 (GRCm39)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,363,720 (GRCm39)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,697,282 (GRCm39)	C137S	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp143	T	C	7: 109,691,021 (GRCm39)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,161,140 (GRCm39)	C342R	probably damaging	Het
Zfp870	T	A	17: 33,102,570 (GRCm39)	H254L	probably benign	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
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
R7258:Zfp777	UTSW	6	48,002,731 (GRCm39)	missense	probably damaging	0.99
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'- ACTTGAGCGACTGTTTGTAGC -3'
(R):5'- AGCACGAAGTCTCCTTCATTTGC -3'

Sequencing Primer
(F):5'- GCGACTGTTTGTAGCGGAAG -3'
(R):5'- CAGTCTGTGCGGCAAGAGTTTC -3'

Posted On

2018-07-24