Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Zfp819'

689603

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

MMRRC Submission

068894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43607169-43618285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43617146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 351 (T351K)

Ref Sequence

ENSEMBL: ENSMUSP00000032661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032661] [ENSMUST00000116324] [ENSMUST00000120935] [ENSMUST00000127765]

AlphaFold

Q80V81

Predicted Effect

probably damaging
Transcript: ENSMUST00000032661
AA Change: T351K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: T351K

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART
ZnF_C2H2	300	327	5.4e1	SMART
ZnF_C2H2	356	378	3.74e-5	SMART
ZnF_C2H2	384	406	5.59e-4	SMART
ZnF_C2H2	412	434	1.36e-2	SMART
ZnF_C2H2	440	462	7.78e-3	SMART
ZnF_C2H2	468	490	5.9e-3	SMART
ZnF_C2H2	496	518	1.2e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	4.54e-4	SMART
ZnF_C2H2	580	602	3.11e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116324
AA Change: T351K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: T351K

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART
ZnF_C2H2	300	327	5.4e1	SMART
ZnF_C2H2	356	378	3.74e-5	SMART
ZnF_C2H2	384	406	5.59e-4	SMART
ZnF_C2H2	412	434	1.36e-2	SMART
ZnF_C2H2	440	462	7.78e-3	SMART
ZnF_C2H2	468	490	5.9e-3	SMART
ZnF_C2H2	496	518	1.2e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	4.54e-4	SMART
ZnF_C2H2	580	602	3.11e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120935
AA Change: T275K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: T275K

Domain	Start	End	E-Value	Type
ZnF_C2H2	224	251	5.4e1	SMART
ZnF_C2H2	280	302	3.74e-5	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.36e-2	SMART
ZnF_C2H2	364	386	7.78e-3	SMART
ZnF_C2H2	392	414	5.9e-3	SMART
ZnF_C2H2	420	442	1.2e-3	SMART
ZnF_C2H2	448	470	4.79e-3	SMART
ZnF_C2H2	476	498	4.54e-4	SMART
ZnF_C2H2	504	526	3.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127765

SMART Domains

Protein: ENSMUSP00000116658
Gene: ENSMUSG00000055102

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392 (GRCm38)	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452 (GRCm38)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389 (GRCm38)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898 (GRCm38)	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234 (GRCm38)	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545 (GRCm38)	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471 (GRCm38)		probably null	Het
Brca1	C	T	11: 101,502,480 (GRCm38)		probably null	Het
C1ql3	T	A	2: 13,010,387 (GRCm38)	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838 (GRCm38)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813 (GRCm38)	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984 (GRCm38)		probably null	Het
Dis3	T	C	14: 99,095,211 (GRCm38)	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653 (GRCm38)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239 (GRCm38)	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520 (GRCm38)	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495 (GRCm38)	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075 (GRCm38)	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280 (GRCm38)	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451 (GRCm38)		probably null	Het
Iqgap3	A	G	3: 88,109,466 (GRCm38)	N1085S		Het
Kbtbd12	T	C	6: 88,618,440 (GRCm38)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994 (GRCm38)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838 (GRCm38)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786 (GRCm38)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710 (GRCm38)	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736 (GRCm38)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,401,923 (GRCm38)	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921 (GRCm38)	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603 (GRCm38)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306 (GRCm38)	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381 (GRCm38)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032 (GRCm38)	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521 (GRCm38)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451 (GRCm38)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,725,943 (GRCm38)	D824G	probably benign	Het
Nwd1	A	T	8: 72,695,418 (GRCm38)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,533,754 (GRCm38)	T114I	probably benign	Het
Or4c101	A	C	2: 88,560,314 (GRCm38)	I271L	probably benign	Het
Or4k40	A	T	2: 111,420,360 (GRCm38)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,636,084 (GRCm38)	R137C	probably benign	Het
Or5b112	A	G	19: 13,341,874 (GRCm38)	T39A	possibly damaging	Het
Or5d37	T	A	2: 88,093,828 (GRCm38)	Q36L	probably benign	Het
Pan2	T	C	10: 128,315,181 (GRCm38)	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415 (GRCm38)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695 (GRCm38)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947 (GRCm38)	L186P		Het
Ppargc1b	G	A	18: 61,310,659 (GRCm38)	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537 (GRCm38)	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715 (GRCm38)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759 (GRCm38)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861 (GRCm38)	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962 (GRCm38)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884 (GRCm38)		probably null	Het
Sgf29	G	A	7: 126,672,654 (GRCm38)	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770 (GRCm38)		probably null	Het
Smap1	T	A	1: 23,922,073 (GRCm38)	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769 (GRCm38)	N538D	probably benign	Het
Spen	T	C	4: 141,476,391 (GRCm38)	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530 (GRCm38)	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853 (GRCm38)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672 (GRCm38)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm38)	I1574T	probably benign	Het
Tinag	T	A	9: 76,997,018 (GRCm38)		probably null	Het
Trak1	T	C	9: 121,460,488 (GRCm38)	L622P	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806 (GRCm38)		probably benign	Het
Ttn	C	T	2: 76,755,874 (GRCm38)	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,869,895 (GRCm38)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276 (GRCm38)	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995 (GRCm38)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365 (GRCm38)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234 (GRCm38)	V668A	probably benign	Het
Zfp820	C	A	17: 21,820,050 (GRCm38)	S99I	possibly damaging	Het

Other mutations in Zfp819

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Zfp819	APN	7	43,611,979 (GRCm38)	splice site	probably benign
IGL01732:Zfp819	APN	7	43,616,422 (GRCm38)	missense	probably benign	0.13
IGL02139:Zfp819	APN	7	43,612,110 (GRCm38)	critical splice donor site	probably null
IGL02276:Zfp819	APN	7	43,612,004 (GRCm38)	missense	possibly damaging	0.84
R0306:Zfp819	UTSW	7	43,617,197 (GRCm38)	missense	possibly damaging	0.92
R0620:Zfp819	UTSW	7	43,616,444 (GRCm38)	missense	probably benign	0.07
R1301:Zfp819	UTSW	7	43,617,100 (GRCm38)	missense	possibly damaging	0.94
R1314:Zfp819	UTSW	7	43,617,056 (GRCm38)	missense	probably benign	0.27
R1980:Zfp819	UTSW	7	43,616,461 (GRCm38)	missense	probably benign
R4545:Zfp819	UTSW	7	43,617,785 (GRCm38)	missense	probably damaging	0.98
R4993:Zfp819	UTSW	7	43,617,296 (GRCm38)	missense	probably benign	0.37
R5053:Zfp819	UTSW	7	43,617,146 (GRCm38)	missense	probably damaging	1.00
R6080:Zfp819	UTSW	7	43,616,696 (GRCm38)	missense	probably benign	0.00
R7289:Zfp819	UTSW	7	43,617,082 (GRCm38)	missense	probably damaging	1.00
R7387:Zfp819	UTSW	7	43,612,641 (GRCm38)	critical splice donor site	probably null
R7608:Zfp819	UTSW	7	43,616,933 (GRCm38)	missense	probably benign
R7813:Zfp819	UTSW	7	43,616,767 (GRCm38)	missense	probably benign
R7863:Zfp819	UTSW	7	43,617,892 (GRCm38)	missense	probably benign	0.17
R8026:Zfp819	UTSW	7	43,617,895 (GRCm38)	missense	probably benign	0.44
R8080:Zfp819	UTSW	7	43,617,724 (GRCm38)	missense	probably damaging	1.00
R9073:Zfp819	UTSW	7	43,617,146 (GRCm38)	missense	probably damaging	1.00
R9199:Zfp819	UTSW	7	43,617,779 (GRCm38)	missense	probably benign	0.04
R9792:Zfp819	UTSW	7	43,612,095 (GRCm38)	missense	possibly damaging	0.93
Z1176:Zfp819	UTSW	7	43,617,687 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCAGCTTTGTGTCAGCAG -3'
(R):5'- CAGTGGTTACATGTGTAAGGCCTC -3'

Sequencing Primer
(F):5'- GCTTTGTGTCAGCAGCAAAC -3'
(R):5'- ATGTGTAAGGCCTCTCCCCAG -3'

Posted On

2021-11-19