Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Zfp599'

594793

Institutional Source

Beutler Lab

Gene Symbol

Zfp599

Ensembl Gene

ENSMUSG00000062794

Gene Name

zinc finger protein 599

Synonyms

MMRRC Submission

045772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22158726-22171191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22161811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 118 (I118T)

Ref Sequence

ENSEMBL: ENSMUSP00000083462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086281]

AlphaFold

E9PWP1

Predicted Effect

probably benign
Transcript: ENSMUST00000086281
AA Change: I118T

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794
AA Change: I118T

Domain	Start	End	E-Value	Type
KRAB	4	64	5.35e-33	SMART
ZnF_C2H2	228	250	5.59e-4	SMART
ZnF_C2H2	256	278	2.43e-4	SMART
ZnF_C2H2	284	306	1.69e-3	SMART
ZnF_C2H2	312	334	8.94e-3	SMART
ZnF_C2H2	340	362	8.47e-4	SMART
ZnF_C2H2	368	390	5.06e-2	SMART
ZnF_C2H2	396	418	7.9e-4	SMART
ZnF_C2H2	424	446	7.67e-2	SMART
ZnF_C2H2	452	474	1.64e-1	SMART
ZnF_C2H2	480	503	7.37e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,587 (GRCm39)		probably null	Het
Agrn	C	A	4: 156,279,854 (GRCm39)	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,192,352 (GRCm39)	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,775,533 (GRCm39)	T135M	probably damaging	Het
Bach1	C	A	16: 87,515,736 (GRCm39)	Y92*	probably null	Het
Catsperg1	A	C	7: 28,884,907 (GRCm39)	C905G	probably null	Het
Cbr2	T	C	11: 120,620,628 (GRCm39)	I219V	probably benign	Het
Ccdc3	A	T	2: 5,233,908 (GRCm39)	K244I	probably damaging	Het
Cd226	T	C	18: 89,265,433 (GRCm39)	V237A	probably damaging	Het
Chek2	T	C	5: 110,989,319 (GRCm39)	C81R	probably benign	Het
Col27a1	T	C	4: 63,242,723 (GRCm39)		probably null	Het
Cracdl	T	A	1: 37,663,858 (GRCm39)	Q680L	probably benign	Het
Crybg3	A	T	16: 59,379,236 (GRCm39)	S673T	probably benign	Het
Csmd2	T	A	4: 128,276,743 (GRCm39)	Y848*	probably null	Het
Dgkb	C	A	12: 38,680,592 (GRCm39)	T764K	probably damaging	Het
Dock4	T	A	12: 40,775,648 (GRCm39)	C530*	probably null	Het
Dpyd	A	G	3: 118,597,780 (GRCm39)	K254R	probably benign	Het
Dstyk	C	T	1: 132,384,614 (GRCm39)	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,585,140 (GRCm39)	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,440,558 (GRCm39)	L597R	probably damaging	Het
Fignl1	T	C	11: 11,752,842 (GRCm39)	E71G	probably damaging	Het
Fnip2	A	C	3: 79,425,421 (GRCm39)	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,431,349 (GRCm39)	I377N	probably damaging	Het
Gcn1	C	T	5: 115,733,359 (GRCm39)	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Grik2	A	C	10: 49,295,792 (GRCm39)	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,236,606 (GRCm39)	L228P	probably damaging	Het
Iws1	A	T	18: 32,223,568 (GRCm39)	M659L	probably benign	Het
Kmt2c	A	G	5: 25,580,364 (GRCm39)	C570R	probably benign	Het
Lamc3	T	A	2: 31,812,279 (GRCm39)		probably null	Het
Lipf	G	A	19: 33,943,048 (GRCm39)	G119R	probably damaging	Het
Lrrc37	T	C	11: 103,507,719 (GRCm39)	I1416M	unknown	Het
Magel2	A	T	7: 62,028,130 (GRCm39)	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360 (GRCm39)	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,001,007 (GRCm39)	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 35,083,872 (GRCm39)	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,549,519 (GRCm39)	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,364,493 (GRCm39)	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,425,472 (GRCm39)	N280K	probably damaging	Het
Or10aa1	G	A	1: 173,869,900 (GRCm39)	R128H	probably benign	Het
Or5b116	A	T	19: 13,423,252 (GRCm39)	N292I	probably damaging	Het
Otof	A	G	5: 30,527,597 (GRCm39)	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,189,102 (GRCm39)	A481T	probably benign	Het
Parm1	C	T	5: 91,741,791 (GRCm39)	T53I	possibly damaging	Het
Pilra	C	T	5: 137,833,679 (GRCm39)	R129Q	probably benign	Het
Pkd1	C	T	17: 24,769,250 (GRCm39)	A5V	unknown	Het
Pmch	T	C	10: 87,927,242 (GRCm39)	S82P	probably benign	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,292,276 (GRCm39)	S180G	probably benign	Het
Rassf8	A	C	6: 145,760,973 (GRCm39)	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,844,890 (GRCm39)	E394G	probably damaging	Het
Rufy2	T	A	10: 62,838,772 (GRCm39)	V418E	probably benign	Het
Sdad1	A	T	5: 92,450,538 (GRCm39)	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,063,761 (GRCm39)	S2227T	probably benign	Het
Tac4	A	G	11: 95,156,116 (GRCm39)	M66V	probably benign	Het
Tas2r126	T	C	6: 42,412,031 (GRCm39)	V188A	probably benign	Het
Tcerg1	T	C	18: 42,694,000 (GRCm39)	V707A	possibly damaging	Het
Tmem273	A	G	14: 32,527,129 (GRCm39)	E32G	possibly damaging	Het
Trav13d-4	G	A	14: 53,995,355 (GRCm39)	G103D	probably damaging	Het
Trav8d-1	A	G	14: 53,016,380 (GRCm39)	S89G	probably benign	Het
Ttll4	C	T	1: 74,718,572 (GRCm39)	S141L	probably benign	Het
Vash1	T	C	12: 86,738,614 (GRCm39)	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,911,116 (GRCm39)	I726F		Het
Vmn2r53	A	C	7: 12,340,418 (GRCm39)	N18K	probably damaging	Het
Wnt6	T	C	1: 74,823,422 (GRCm39)	F253S	probably damaging	Het

Other mutations in Zfp599

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Zfp599	APN	9	22,160,768 (GRCm39)	missense	possibly damaging	0.94
IGL00845:Zfp599	APN	9	22,162,814 (GRCm39)	splice site	probably benign
R0136:Zfp599	UTSW	9	22,161,038 (GRCm39)	missense	probably benign	0.13
R0239:Zfp599	UTSW	9	22,161,055 (GRCm39)	missense	probably damaging	1.00
R0239:Zfp599	UTSW	9	22,161,055 (GRCm39)	missense	probably damaging	1.00
R0421:Zfp599	UTSW	9	22,161,843 (GRCm39)	splice site	probably benign
R1699:Zfp599	UTSW	9	22,161,700 (GRCm39)	missense	probably benign	0.20
R1723:Zfp599	UTSW	9	22,169,361 (GRCm39)	missense	probably damaging	1.00
R1899:Zfp599	UTSW	9	22,162,845 (GRCm39)	missense	probably benign	0.00
R4231:Zfp599	UTSW	9	22,161,041 (GRCm39)	nonsense	probably null
R4233:Zfp599	UTSW	9	22,161,041 (GRCm39)	nonsense	probably null
R4236:Zfp599	UTSW	9	22,161,041 (GRCm39)	nonsense	probably null
R4931:Zfp599	UTSW	9	22,169,419 (GRCm39)	missense	probably damaging	0.98
R5117:Zfp599	UTSW	9	22,161,396 (GRCm39)	nonsense	probably null
R5615:Zfp599	UTSW	9	22,165,165 (GRCm39)	missense	probably benign
R5759:Zfp599	UTSW	9	22,160,957 (GRCm39)	missense	probably damaging	1.00
R5915:Zfp599	UTSW	9	22,161,130 (GRCm39)	missense	probably damaging	1.00
R6184:Zfp599	UTSW	9	22,160,947 (GRCm39)	missense	probably benign	0.18
R6188:Zfp599	UTSW	9	22,161,286 (GRCm39)	missense	probably damaging	1.00
R6657:Zfp599	UTSW	9	22,161,538 (GRCm39)	missense	probably damaging	1.00
R6736:Zfp599	UTSW	9	22,161,140 (GRCm39)	missense	probably damaging	1.00
R6752:Zfp599	UTSW	9	22,160,840 (GRCm39)	missense	probably damaging	1.00
R7071:Zfp599	UTSW	9	22,169,392 (GRCm39)	missense	probably benign	0.38
R7643:Zfp599	UTSW	9	22,161,188 (GRCm39)	missense	probably benign	0.19
R7951:Zfp599	UTSW	9	22,160,764 (GRCm39)	missense	probably damaging	1.00
R7967:Zfp599	UTSW	9	22,160,830 (GRCm39)	missense	possibly damaging	0.66
R8014:Zfp599	UTSW	9	22,160,777 (GRCm39)	missense	probably benign	0.03
R8187:Zfp599	UTSW	9	22,161,111 (GRCm39)	nonsense	probably null
R9562:Zfp599	UTSW	9	22,160,999 (GRCm39)	missense	probably damaging	0.98
R9684:Zfp599	UTSW	9	22,160,824 (GRCm39)	missense	probably damaging	1.00
R9722:Zfp599	UTSW	9	22,160,741 (GRCm39)	missense	probably damaging	0.96
RF005:Zfp599	UTSW	9	22,165,180 (GRCm39)	missense	probably benign	0.03
RF024:Zfp599	UTSW	9	22,165,180 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGGAAGATGGTTTTCCTGCATTC -3'
(R):5'- ACTGGGATCATGGGACGTTATC -3'

Sequencing Primer
(F):5'- AGATGGTTTTCCTGCATTCTTCATAC -3'
(R):5'- GGATCATGGGACGTTATCTAACCAC -3'

Posted On

2019-11-12