Mutagenetix > Incidental Mutation

Incidental Mutation 'R5869:Zfp523'

454358

Institutional Source

Beutler Lab

Gene Symbol

Zfp523

Ensembl Gene

ENSMUSG00000024220

Gene Name

zinc finger protein 523

Synonyms

MMRRC Submission

044077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R5869 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

28396136-28424860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28413967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 34 (I34T)

Ref Sequence

ENSEMBL: ENSMUSP00000073226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002318] [ENSMUST00000073534] [ENSMUST00000133868]

AlphaFold

Q8BMU0

Predicted Effect

probably benign
Transcript: ENSMUST00000002318
AA Change: I34T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: I34T

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073534
AA Change: I34T

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: I34T

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133868

SMART Domains

Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ZnF_C2H2	84	108	7.15e-2	SMART
ZnF_C2H2	114	138	3.16e-3	SMART
ZnF_C2H2	144	168	8.47e-4	SMART
ZnF_C2H2	174	198	3.44e-4	SMART
ZnF_C2H2	204	228	1.69e-3	SMART
ZnF_C2H2	234	257	5.06e-2	SMART
low complexity region	264	285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161275

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

93% (68/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,450 (GRCm39)		probably benign	Het
Arsk	T	C	13: 76,239,903 (GRCm39)	E100G	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Aspscr1	T	C	11: 120,579,746 (GRCm39)	I31T	possibly damaging	Het
Asz1	T	C	6: 18,074,939 (GRCm39)		probably benign	Het
Calm5	T	A	13: 3,904,321 (GRCm39)		probably benign	Het
Car5a	G	A	8: 122,643,119 (GRCm39)	T295I	probably benign	Het
Ccdc174	T	A	6: 91,862,399 (GRCm39)		probably benign	Het
Celsr2	G	A	3: 108,321,225 (GRCm39)	A529V	probably damaging	Het
Cep192	A	G	18: 67,948,935 (GRCm39)	D252G	probably benign	Het
Clcnka	A	G	4: 141,122,276 (GRCm39)	F217L	probably benign	Het
Cnot3	A	T	7: 3,647,929 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,907 (GRCm39)		probably benign	Het
Cstf3	A	G	2: 104,489,585 (GRCm39)		probably null	Het
Dcdc2a	C	T	13: 25,291,713 (GRCm39)	P233S	probably benign	Het
Ddx55	A	G	5: 124,706,745 (GRCm39)	T581A	probably benign	Het
Exo1	T	C	1: 175,728,849 (GRCm39)	S638P	possibly damaging	Het
Fam135a	T	C	1: 24,068,511 (GRCm39)	E616G	possibly damaging	Het
Fignl2	T	C	15: 100,951,161 (GRCm39)	S374G	unknown	Het
Gm4799	A	T	10: 82,790,283 (GRCm39)		noncoding transcript	Het
Hectd4	T	C	5: 121,481,288 (GRCm39)		probably null	Het
Ighv1-76	T	C	12: 115,811,658 (GRCm39)	E65G	probably damaging	Het
Igsf9b	C	A	9: 27,234,531 (GRCm39)	H465Q	probably benign	Het
Itga9	A	G	9: 118,492,957 (GRCm39)	D284G	probably damaging	Het
Itpr1	T	C	6: 108,450,490 (GRCm39)	S1940P	probably benign	Het
Kcnb1	A	G	2: 167,029,991 (GRCm39)	S185P	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Krt1	A	T	15: 101,758,566 (GRCm39)	F199L	probably damaging	Het
Lpin2	A	G	17: 71,539,271 (GRCm39)		probably benign	Het
Lrp1b	A	C	2: 40,894,615 (GRCm39)	D2204E	probably damaging	Het
Mier3	T	A	13: 111,851,384 (GRCm39)	N427K	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mroh3	T	A	1: 136,113,861 (GRCm39)	M643L	probably benign	Het
Myh11	A	G	16: 14,048,664 (GRCm39)	S548P	probably damaging	Het
Nat8f6	A	C	6: 85,785,505 (GRCm39)	L215V	possibly damaging	Het
Nlrp3	G	A	11: 59,438,960 (GRCm39)	R179Q	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Pias1	A	T	9: 62,820,048 (GRCm39)	D306E	probably benign	Het
Pick1	A	G	15: 79,133,095 (GRCm39)	D385G	probably benign	Het
Pitx3	A	T	19: 46,125,735 (GRCm39)		probably benign	Het
Plpp3	T	A	4: 105,052,159 (GRCm39)		probably null	Het
Prlhr	C	A	19: 60,456,059 (GRCm39)	R169L	probably damaging	Het
Ptprf	A	C	4: 118,067,579 (GRCm39)	M1872R	probably damaging	Het
Ptprh	T	C	7: 4,604,939 (GRCm39)	D35G	probably benign	Het
Rnf130	A	G	11: 49,976,642 (GRCm39)		probably null	Het
Rnf17	A	C	14: 56,743,445 (GRCm39)	E1337A	possibly damaging	Het
Sdk2	A	G	11: 113,742,708 (GRCm39)	Y734H	probably damaging	Het
Slc25a10	C	T	11: 120,388,943 (GRCm39)	T269I	probably damaging	Het
Slc4a11	A	C	2: 130,526,379 (GRCm39)	V855G	probably benign	Het
Slc5a5	C	A	8: 71,344,974 (GRCm39)	R111L	probably damaging	Het
Spart	A	T	3: 55,042,931 (GRCm39)	M616L	probably benign	Het
Tmem229a	T	C	6: 24,954,686 (GRCm39)	D356G	probably damaging	Het
Tmem30c	A	G	16: 57,086,925 (GRCm39)	S293P	probably damaging	Het
Tnfrsf14	C	A	4: 155,011,055 (GRCm39)		probably null	Het
Tnfrsf19	C	T	14: 61,208,627 (GRCm39)	R298H	possibly damaging	Het
Ttc21a	A	G	9: 119,787,858 (GRCm39)	K809E	probably benign	Het
Ttn	G	A	2: 76,580,553 (GRCm39)	P23447S	probably damaging	Het
Uap1	T	A	1: 169,978,707 (GRCm39)		probably null	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zfp808	T	A	13: 62,319,069 (GRCm39)	H99Q	probably damaging	Het

Other mutations in Zfp523

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Zfp523	APN	17	28,420,023 (GRCm39)	missense	possibly damaging	0.95
IGL01405:Zfp523	APN	17	28,423,480 (GRCm39)	missense	probably damaging	0.99
IGL02430:Zfp523	APN	17	28,414,113 (GRCm39)	unclassified	probably benign
R0496:Zfp523	UTSW	17	28,419,419 (GRCm39)	missense	possibly damaging	0.83
R1533:Zfp523	UTSW	17	28,423,473 (GRCm39)	missense	probably benign	0.18
R1837:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1838:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1839:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R2023:Zfp523	UTSW	17	28,419,978 (GRCm39)	unclassified	probably benign
R2104:Zfp523	UTSW	17	28,414,190 (GRCm39)	missense	probably benign	0.31
R2403:Zfp523	UTSW	17	28,414,183 (GRCm39)	missense	probably damaging	1.00
R2864:Zfp523	UTSW	17	28,421,514 (GRCm39)	missense	probably benign	0.00
R4157:Zfp523	UTSW	17	28,421,257 (GRCm39)	missense	probably benign	0.06
R4214:Zfp523	UTSW	17	28,420,003 (GRCm39)	missense	probably benign	0.04
R4771:Zfp523	UTSW	17	28,420,312 (GRCm39)	splice site	probably null
R5950:Zfp523	UTSW	17	28,421,532 (GRCm39)	missense	probably benign	0.06
R6443:Zfp523	UTSW	17	28,420,381 (GRCm39)	missense	probably damaging	0.99
R6679:Zfp523	UTSW	17	28,421,194 (GRCm39)	missense	probably damaging	1.00
R6694:Zfp523	UTSW	17	28,419,446 (GRCm39)	missense	probably damaging	1.00
R7669:Zfp523	UTSW	17	28,420,015 (GRCm39)	missense	probably damaging	1.00
R8103:Zfp523	UTSW	17	28,420,267 (GRCm39)	missense	probably damaging	1.00
R8315:Zfp523	UTSW	17	28,421,562 (GRCm39)	missense	possibly damaging	0.90
R9001:Zfp523	UTSW	17	28,408,915 (GRCm39)	missense	possibly damaging	0.64
R9406:Zfp523	UTSW	17	28,416,840 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGGCAGGATGTTTCTCCTCAG -3'
(R):5'- GGGCTGACCATCTTCAAAGG -3'

Sequencing Primer
(F):5'- CCTCCAGACTGAGGCTTAAGAG -3'
(R):5'- TCTTCAAAGGAGAAAGACTCTGC -3'

Posted On

2017-02-10