Mutagenetix > Incidental Mutation

Incidental Mutation 'R2403:Zfp523'

248839

Institutional Source

Beutler Lab

Gene Symbol

Zfp523

Ensembl Gene

ENSMUSG00000024220

Gene Name

zinc finger protein 523

Synonyms

MMRRC Submission

040369-MU

Accession Numbers

Essential gene?

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

Stock #

R2403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28396136-28424860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28414183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 72 (I72M)

Ref Sequence

ENSEMBL: ENSMUSP00000073226 (fasta)

Gene Model

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

AlphaFold

Q8BMU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002318
AA Change: I72M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: I72M

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 damaging
Transcript: ENSMUST00000073534
AA Change: I72M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: I72M

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,592 (GRCm39)	E925G	probably damaging	Het
Abca9	T	G	11: 110,006,280 (GRCm39)	Q1275P	probably benign	Het
Adgrl1	T	A	8: 84,657,870 (GRCm39)	M492K	probably benign	Het
Ankrd50	T	A	3: 38,537,234 (GRCm39)	K3*	probably null	Het
Arl5b	T	C	2: 15,079,848 (GRCm39)	S140P	probably damaging	Het
Armc1	T	C	3: 19,211,840 (GRCm39)		probably benign	Het
Ascc1	T	C	10: 59,840,663 (GRCm39)	I8T	probably benign	Het
Bche	A	G	3: 73,608,805 (GRCm39)	V207A	probably damaging	Het
Cacna2d3	A	G	14: 28,627,259 (GRCm39)	L1080P	probably benign	Het
Ceacam3	C	A	7: 16,895,779 (GRCm39)	A583D	probably damaging	Het
Cep290	C	T	10: 100,373,299 (GRCm39)	A1193V	probably benign	Het
Clcn1	T	C	6: 42,290,046 (GRCm39)	I827T	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,175,641 (GRCm39)	D69G	possibly damaging	Het
Cts3	A	G	13: 61,712,806 (GRCm39)	W305R	probably damaging	Het
Dmwd	T	C	7: 18,815,084 (GRCm39)	I578T	possibly damaging	Het
Dnmt3a	G	A	12: 3,949,883 (GRCm39)	V559M	probably damaging	Het
Dysf	T	C	6: 84,016,549 (GRCm39)	V70A	possibly damaging	Het
Eml6	A	G	11: 29,752,434 (GRCm39)	V993A	probably benign	Het
Etl4	T	A	2: 20,812,117 (GRCm39)	L1768*	probably null	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fat3	T	G	9: 15,881,167 (GRCm39)	D3235A	probably damaging	Het
Fbxo36	T	A	1: 84,877,823 (GRCm39)	F162I	probably damaging	Het
Fgfrl1	T	C	5: 108,852,897 (GRCm39)	W200R	probably damaging	Het
Fsip2	T	C	2: 82,811,064 (GRCm39)	M2461T	possibly damaging	Het
Fut1	A	G	7: 45,268,643 (GRCm39)	Y144C	probably benign	Het
Gprin3	G	A	6: 59,331,134 (GRCm39)	A391V	probably benign	Het
H2-Q4	A	G	17: 35,598,973 (GRCm39)	E81G	probably damaging	Het
Hacd3	A	G	9: 64,908,311 (GRCm39)	S162P	probably damaging	Het
Itga1	A	T	13: 115,114,150 (GRCm39)	H918Q	probably benign	Het
Lrp5	C	A	19: 3,647,430 (GRCm39)	D1271Y	probably damaging	Het
Lsm8	C	T	6: 18,849,643 (GRCm39)	T17I	probably benign	Het
Mup4	T	A	4: 59,958,145 (GRCm39)	D141V	probably damaging	Het
Nckap5	G	A	1: 125,955,146 (GRCm39)	H405Y	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12k8	T	C	2: 36,974,986 (GRCm39)	Y258C	probably benign	Het
Ostf1	T	C	19: 18,562,026 (GRCm39)	K190R	probably benign	Het
Pnldc1	A	T	17: 13,118,777 (GRCm39)	V197E	probably damaging	Het
Ptprc	A	G	1: 138,016,270 (GRCm39)	S531P	probably damaging	Het
Ryr3	C	T	2: 112,516,973 (GRCm39)	E3318K	probably damaging	Het
Scamp2	T	C	9: 57,484,995 (GRCm39)	V67A	possibly damaging	Het
Serpina3g	C	A	12: 104,207,421 (GRCm39)	L195M	probably damaging	Het
Siglec1	G	T	2: 130,916,395 (GRCm39)	T1185N	possibly damaging	Het
Sycp2	G	A	2: 178,045,528 (GRCm39)	Q31*	probably null	Het
Tmprss15	T	G	16: 78,854,578 (GRCm39)	T277P	probably damaging	Het
Trim34b	C	T	7: 103,978,876 (GRCm39)	S41L	probably benign	Het
Ttn	T	C	2: 76,557,705 (GRCm39)	T21507A	possibly damaging	Het
Umad1	T	C	6: 8,427,161 (GRCm39)	V138A	possibly damaging	Het
Zfp655	C	T	5: 145,181,356 (GRCm39)	R405C	probably benign	Het
Zfp715	G	A	7: 42,948,692 (GRCm39)	R423C	possibly 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
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
R5869:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably benign	0.37
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'- GTACATTCACCAGGTGACGATAC -3'
(R):5'- TGGTGTGACAAGGTACCAGC -3'

Sequencing Primer
(F):5'- CATTCACCAGGTGACGATACAGAAAG -3'
(R):5'- GCACCTACGCTGATGTCAAG -3'

Posted On

2014-11-11