Mutagenetix > Incidental Mutation

Incidental Mutation 'R5030:Zfp777'

453348

Institutional Source

Beutler Lab

Gene Symbol

Zfp777

Ensembl Gene

ENSMUSG00000071477

Gene Name

zinc finger protein 777

Synonyms

2500002G23Rik

MMRRC Submission

042621-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48001122-48025845 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48014601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 368 (D368E)

Ref Sequence

ENSEMBL: ENSMUSP00000110230 (fasta)

Gene Model

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

AlphaFold

B9EKF4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095944
AA Change: D324E

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093637
Gene: ENSMUSG00000071477
AA Change: D324E

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: D368E

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

SMART Domains

Protein: ENSMUSP00000110230
Gene: ENSMUSG00000071477
AA Change: D368E

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: D176E

SMART Domains

Protein: ENSMUSP00000116303
Gene: ENSMUSG00000071477
AA Change: D176E

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

Meta Mutation Damage Score

0.2292

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	C	5: 26,684,783 (GRCm39)		noncoding transcript	Het
Abca15	A	T	7: 119,939,224 (GRCm39)	E206V	probably damaging	Het
Acy1	A	G	9: 106,310,596 (GRCm39)	F343L	probably benign	Het
Adam22	T	C	5: 8,229,645 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,607,948 (GRCm39)	D4041E	probably benign	Het
Akr1c14	T	C	13: 4,129,102 (GRCm39)	S166P	probably damaging	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Atm	A	T	9: 53,431,409 (GRCm39)	Y316*	probably null	Het
Atp1a1	T	C	3: 101,487,133 (GRCm39)	D892G	probably benign	Het
Auts2	A	G	5: 131,472,336 (GRCm39)	V581A	probably benign	Het
Bltp1	A	G	3: 36,997,548 (GRCm39)		probably benign	Het
Boll	T	A	1: 55,394,894 (GRCm39)	N57I	probably damaging	Het
C1s2	A	C	6: 124,612,547 (GRCm39)	V36G	possibly damaging	Het
Capza1	T	C	3: 104,748,154 (GRCm39)	Y70C	probably damaging	Het
Carnmt1	T	C	19: 18,668,950 (GRCm39)	S292P	possibly damaging	Het
Cemip2	T	G	19: 21,819,469 (GRCm39)	F1087V	probably benign	Het
Cyp2g1	T	G	7: 26,520,226 (GRCm39)	V486G	probably benign	Het
Dennd6b	T	A	15: 89,080,454 (GRCm39)	T49S	possibly damaging	Het
Dhx58	A	T	11: 100,586,963 (GRCm39)	I610N	probably damaging	Het
Elapor2	T	A	5: 9,478,502 (GRCm39)	N455K	probably damaging	Het
Fam170a	T	A	18: 50,415,021 (GRCm39)	N222K	probably benign	Het
Fbn1	A	G	2: 125,254,624 (GRCm39)	V213A	possibly damaging	Het
Frem3	A	C	8: 81,339,876 (GRCm39)	D723A	possibly damaging	Het
Fsip2	A	T	2: 82,818,836 (GRCm39)	K4856N	possibly damaging	Het
Galnt17	A	G	5: 130,905,351 (GRCm39)	V571A	probably damaging	Het
Gm6124	A	G	7: 38,872,454 (GRCm39)		noncoding transcript	Het
Gm8973	A	G	15: 98,904,136 (GRCm39)		noncoding transcript	Het
Gpd2	A	G	2: 57,194,417 (GRCm39)	T107A	probably damaging	Het
Hsd17b11	G	A	5: 104,151,158 (GRCm39)	A192V	probably damaging	Het
Igkv6-25	C	T	6: 70,192,426 (GRCm39)	Q4*	probably null	Het
Kalrn	A	G	16: 33,796,112 (GRCm39)	I1221T	probably benign	Het
Klhl9	G	T	4: 88,638,771 (GRCm39)	T490K	possibly damaging	Het
Lnpep	A	G	17: 17,799,571 (GRCm39)	V28A	probably damaging	Het
Lrrc37	G	A	11: 103,425,675 (GRCm39)	P1419S	unknown	Het
Man2c1	A	G	9: 57,047,923 (GRCm39)	H843R	probably benign	Het
Map1b	T	C	13: 99,570,682 (GRCm39)	K680E	unknown	Het
Metap2	A	T	10: 93,715,539 (GRCm39)		probably null	Het
Mfsd2a	A	T	4: 122,843,949 (GRCm39)	I340N	possibly damaging	Het
Mgll	T	C	6: 88,795,647 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,691,998 (GRCm39)		probably benign	Het
Ncapd3	A	T	9: 26,983,062 (GRCm39)	I937F	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Nova1	A	G	12: 46,747,030 (GRCm39)	S416P	probably damaging	Het
Oosp3	T	C	19: 11,678,308 (GRCm39)	W95R	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t26	A	T	11: 49,039,188 (GRCm39)	M35L	probably benign	Het
Or5p76	T	A	7: 108,122,384 (GRCm39)	I258F	possibly damaging	Het
Or7e175	A	T	9: 20,049,363 (GRCm39)	K317M	probably benign	Het
Pcdha7	T	A	18: 37,108,501 (GRCm39)	S509T	probably damaging	Het
Pdgfrb	T	C	18: 61,198,207 (GRCm39)	V296A	probably benign	Het
Pdzd2	A	T	15: 12,592,494 (GRCm39)	L50*	probably null	Het
Plcl2	G	T	17: 50,914,347 (GRCm39)	R452L	possibly damaging	Het
Poldip3	A	T	15: 83,022,392 (GRCm39)	F131I	possibly damaging	Het
Pwwp3a	T	C	10: 80,076,209 (GRCm39)		probably benign	Het
Rffl	G	A	11: 82,703,543 (GRCm39)	R127*	probably null	Het
Sec24d	T	A	3: 123,152,550 (GRCm39)	V854E	probably damaging	Het
Sgo2a	T	A	1: 58,056,918 (GRCm39)	L1034*	probably null	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
Spaca1	A	T	4: 34,039,247 (GRCm39)	N95K	possibly damaging	Het
Spag17	C	T	3: 99,992,657 (GRCm39)	Q1718*	probably null	Het
Spdl1	C	T	11: 34,714,267 (GRCm39)	A141T	probably benign	Het
Stxbp3-ps	A	T	19: 9,535,714 (GRCm39)		noncoding transcript	Het
Supv3l1	G	T	10: 62,266,394 (GRCm39)	A594D	probably damaging	Het
Tcaf3	A	G	6: 42,573,867 (GRCm39)	V115A	probably benign	Het
Tmem131	T	C	1: 36,866,255 (GRCm39)	N483S	possibly damaging	Het
Tonsl	A	T	15: 76,522,301 (GRCm39)	C231S	probably damaging	Het
Trav9n-4	T	C	14: 53,532,305 (GRCm39)	F53S	possibly damaging	Het
Trgv7	G	T	13: 19,362,558 (GRCm39)	L82F	probably damaging	Het
Trim45	T	G	3: 100,835,388 (GRCm39)	V457G	probably damaging	Het
Trpm1	T	A	7: 63,885,579 (GRCm39)	I865N	probably damaging	Het
Trpm3	C	A	19: 22,676,130 (GRCm39)	L99I	probably benign	Het
Twist1	T	A	12: 34,008,440 (GRCm39)	L155Q	probably damaging	Het
Vac14	A	G	8: 111,437,018 (GRCm39)	E577G	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,881 (GRCm39)	V209A	probably benign	Het
Xdh	C	T	17: 74,198,288 (GRCm39)	G1200R	probably damaging	Het
Zbbx	C	T	3: 74,990,990 (GRCm39)	D290N	possibly damaging	Het
Zbtb40	T	C	4: 136,725,263 (GRCm39)	T585A	probably benign	Het
Zc3h4	T	A	7: 16,156,155 (GRCm39)	D262E	unknown	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
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
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'- TGGAGCTGCCAGAATACTGAG -3'
(R):5'- TCAACTTTGTCATGAAGCTCTGTG -3'

Sequencing Primer
(F):5'- CTGCCAGAATACTGAGAGGCC -3'
(R):5'- CAAGTTTTAGTGTCTGCCAGCAGC -3'

Posted On

2017-02-01