Mutagenetix > Incidental Mutation

Incidental Mutation 'R1723:Zfp599'

191620

Institutional Source

Beutler Lab

Gene Symbol

Zfp599

Ensembl Gene

ENSMUSG00000062794

Gene Name

zinc finger protein 599

Synonyms

MMRRC Submission

039755-MU

Accession Numbers

Essential gene?

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

Stock #

R1723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22158726-22171191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22169361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 37 (Y37C)

Ref Sequence

ENSEMBL: ENSMUSP00000083462 (fasta)

Gene Model

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

AlphaFold

E9PWP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000086281
AA Change: Y37C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794
AA Change: Y37C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216780

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,605,735 (GRCm39)	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,937,406 (GRCm39)	E464G	probably damaging	Het
Aoc3	T	A	11: 101,227,261 (GRCm39)	V378E	possibly damaging	Het
Atp13a5	T	A	16: 29,051,551 (GRCm39)	K1152I	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Calcoco1	C	A	15: 102,627,988 (GRCm39)	G49C	probably damaging	Het
Cd70	T	C	17: 57,453,401 (GRCm39)	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,085,974 (GRCm39)	R56Q	probably benign	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,364,127 (GRCm39)	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,082,143 (GRCm39)	D190G	probably benign	Het
Exoc6b	A	G	6: 85,046,326 (GRCm39)	L21P	probably damaging	Het
Fam110c	A	G	12: 31,124,394 (GRCm39)	R119G	unknown	Het
Gask1b	T	A	3: 79,843,970 (GRCm39)	N32K	probably benign	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Hpcal4	A	G	4: 123,084,532 (GRCm39)	I154V	probably benign	Het
Itgb1	A	G	8: 129,452,519 (GRCm39)	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753 (GRCm39)	D701V	probably damaging	Het
Kif18a	A	G	2: 109,133,227 (GRCm39)	K448E	probably damaging	Het
Kif26a	T	C	12: 112,140,292 (GRCm39)	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,630,276 (GRCm39)		probably benign	Het
Map3k20	T	C	2: 72,219,836 (GRCm39)	I256T	probably damaging	Het
Med29	T	A	7: 28,092,130 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 34,954,026 (GRCm39)	C215R	probably damaging	Het
Mtf2	T	C	5: 108,235,936 (GRCm39)	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,744,140 (GRCm39)	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,748,903 (GRCm39)	D779V	probably damaging	Het
Or51q1c	T	C	7: 103,652,518 (GRCm39)	F18S	probably damaging	Het
Otud3	T	C	4: 138,625,329 (GRCm39)	T242A	probably damaging	Het
Pcare	A	T	17: 72,057,373 (GRCm39)	F768Y	probably damaging	Het
Pnliprp1	T	A	19: 58,720,574 (GRCm39)	M150K	possibly damaging	Het
Polm	T	A	11: 5,784,776 (GRCm39)	Q227L	probably benign	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppfia2	T	A	10: 106,751,533 (GRCm39)		probably null	Het
Rad51	T	G	2: 118,954,295 (GRCm39)	M168R	probably benign	Het
Senp2	A	G	16: 21,846,792 (GRCm39)	T266A	probably benign	Het
Sfswap	A	G	5: 129,616,758 (GRCm39)	T401A	probably benign	Het
Slc35a4	C	A	18: 36,815,788 (GRCm39)	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,963,921 (GRCm39)	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,295 (GRCm39)	K1217R	probably damaging	Het
St18	A	C	1: 6,880,909 (GRCm39)		probably benign	Het
Tdrd6	T	C	17: 43,939,218 (GRCm39)	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,479,108 (GRCm39)	R137L	probably damaging	Het
Tmem94	T	A	11: 115,685,574 (GRCm39)	D942E	probably damaging	Het
Ttn	T	A	2: 76,580,754 (GRCm39)	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,212,393 (GRCm39)		probably null	Het
Vav2	T	C	2: 27,208,976 (GRCm39)	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Zbtb41	A	T	1: 139,351,301 (GRCm39)	Q138L	probably benign	Het
Zfp784	T	A	7: 5,038,782 (GRCm39)	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,118,837 (GRCm39)	S236G	probably benign	Het
Zng1	A	G	19: 24,925,458 (GRCm39)	V166A	possibly 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
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
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'- GGGACTCCACATTTGTAGCAAGGG -3'
(R):5'- CTTTCTGTTCCAAAAGCTGACCGC -3'

Sequencing Primer
(F):5'- tgagggggatgggatgg -3'
(R):5'- CATTTGAAGACGTAGCCGTG -3'

Posted On

2014-05-14