Mutagenetix > Incidental Mutation

Incidental Mutation 'R4233:Zfp599'

320967

Institutional Source

Beutler Lab

Gene Symbol

Zfp599

Ensembl Gene

ENSMUSG00000062794

Gene Name

zinc finger protein 599

Synonyms

MMRRC Submission

041642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22158726-22171191 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 22161041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 375 (K375*)

Ref Sequence

ENSEMBL: ENSMUSP00000083462 (fasta)

Gene Model

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

AlphaFold

E9PWP1

Predicted Effect

probably null
Transcript: ENSMUST00000086281
AA Change: K375*

SMART Domains

Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794
AA Change: K375*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	T	5: 138,562,454 (GRCm39)	Y96N	probably damaging	Het
Abca15	C	T	7: 120,002,202 (GRCm39)	Q1572*	probably null	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Aph1c	A	G	9: 66,740,603 (GRCm39)	F41S	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Arhgef40	T	C	14: 52,227,628 (GRCm39)	V458A	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Ccar2	T	C	14: 70,388,540 (GRCm39)	T169A	possibly damaging	Het
Cfap58	G	A	19: 47,963,994 (GRCm39)	V541M	possibly damaging	Het
Coro2b	T	C	9: 62,333,467 (GRCm39)	E376G	possibly damaging	Het
Dnah11	T	C	12: 117,880,526 (GRCm39)	T3865A	probably damaging	Het
Dync2h1	T	C	9: 7,134,360 (GRCm39)	E1549G	probably benign	Het
Ercc6l2	T	C	13: 64,019,982 (GRCm39)		probably benign	Het
Fbxo32	G	T	15: 58,055,729 (GRCm39)	T135K	possibly damaging	Het
Fhip2b	A	C	14: 70,824,318 (GRCm39)	V473G	probably damaging	Het
Fras1	A	T	5: 96,862,235 (GRCm39)	I2205F	possibly damaging	Het
Gm12034	A	G	11: 20,396,785 (GRCm39)		noncoding transcript	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Gm5108	C	A	5: 68,132,496 (GRCm39)	T55K	unknown	Het
Gpa33	A	T	1: 165,974,340 (GRCm39)	D59V	probably damaging	Het
Gpn2	T	A	4: 133,312,016 (GRCm39)	Y83N	probably damaging	Het
Gzf1	C	T	2: 148,528,453 (GRCm39)	P460S	possibly damaging	Het
Ifi203	A	T	1: 173,764,099 (GRCm39)	S124R	possibly damaging	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ldlrap1	T	A	4: 134,484,649 (GRCm39)		probably null	Het
Madd	T	C	2: 91,008,581 (GRCm39)	E107G	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or52n4	A	G	7: 104,294,195 (GRCm39)	V126A	probably benign	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	T	1: 97,792,119 (GRCm39)	V434D	possibly damaging	Het
Plxnd1	T	C	6: 115,942,914 (GRCm39)	N1257D	probably benign	Het
Prkdc	C	T	16: 15,653,783 (GRCm39)	A3870V	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	T	C	13: 11,765,611 (GRCm39)	D1375G	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc13a2	A	G	11: 78,294,361 (GRCm39)		probably benign	Het
Slc7a13	T	C	4: 19,819,070 (GRCm39)	F90S	probably damaging	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Stard13	A	G	5: 150,986,164 (GRCm39)	S331P	probably benign	Het
Sult2a8	T	A	7: 14,147,608 (GRCm39)	I228L	probably benign	Het
Tas2r140	A	T	6: 133,031,915 (GRCm39)	V281D	probably damaging	Het
Tmem38b	T	C	4: 53,840,710 (GRCm39)	C66R	probably damaging	Het
Tshz1	C	A	18: 84,034,320 (GRCm39)	E29D	probably benign	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
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
R7714:Zfp599	UTSW	9	22,161,811 (GRCm39)	missense	probably benign	0.07
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'- ACTTTGATGTCGAATGAGGTGTGAC -3'
(R):5'- TGCTCTCAGGGAAAACTTACTC -3'

Sequencing Primer
(F):5'- GGGAGAAAGCTTTCCCACAGTC -3'
(R):5'- CTGAATGTGGGAAAGCTTTCTACC -3'

Posted On

2015-06-12