Mutagenetix > Incidental Mutation

Incidental Mutation 'R5549:Zfp526'

435035

Institutional Source

Beutler Lab

Gene Symbol

Zfp526

Ensembl Gene

ENSMUSG00000046541

Gene Name

zinc finger protein 526

Synonyms

D030024H03Rik

MMRRC Submission

043106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R5549 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24920850-24926932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24925109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 456 (F456S)

Ref Sequence

ENSEMBL: ENSMUSP00000053567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055604] [ENSMUST00000071739] [ENSMUST00000108411]

AlphaFold

Q8BI66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055604
AA Change: F456S

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053567
Gene: ENSMUSG00000046541
AA Change: F456S

Domain	Start	End	E-Value	Type
ZnF_C2H2	56	78	1.41e0	SMART
low complexity region	79	90	N/A	INTRINSIC
ZnF_C2H2	108	130	9.46e0	SMART
ZnF_C2H2	140	163	4.65e-1	SMART
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	200	222	4.72e-2	SMART
coiled coil region	234	254	N/A	INTRINSIC
ZnF_C2H2	280	303	1.26e1	SMART
ZnF_C2H2	312	334	3.29e-1	SMART
ZnF_C2H2	339	361	6.78e-3	SMART
ZnF_C2H2	367	389	4.65e-1	SMART
ZnF_C2H2	395	416	3.56e1	SMART
ZnF_C2H2	447	470	8.47e-4	SMART
ZnF_C2H2	477	499	2.05e-2	SMART
ZnF_C2H2	505	527	2.09e-3	SMART
ZnF_C2H2	533	555	5.99e-4	SMART
ZnF_C2H2	578	600	8.22e-2	SMART
low complexity region	610	624	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071739

SMART Domains

Protein: ENSMUSP00000071654
Gene: ENSMUSG00000057177

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	25	90	N/A	INTRINSIC
S_TKc	119	404	3.11e-84	SMART
low complexity region	481	490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108411

SMART Domains

Protein: ENSMUSP00000104049
Gene: ENSMUSG00000057177

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	25	90	N/A	INTRINSIC
S_TKc	119	404	3.11e-84	SMART
low complexity region	477	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169914

SMART Domains

Protein: ENSMUSP00000126890
Gene: ENSMUSG00000090330

Domain	Start	End	E-Value	Type
low complexity region	77	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206788

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,993 (GRCm39)	E324G	possibly damaging	Het
Acad8	C	T	9: 26,896,847 (GRCm39)	R204Q	probably damaging	Het
Adgrg7	T	G	16: 56,570,790 (GRCm39)	T413P	probably damaging	Het
Ankrd11	A	G	8: 123,617,117 (GRCm39)	I2224T	probably benign	Het
Arhgap23	A	G	11: 97,357,394 (GRCm39)	D964G	probably damaging	Het
Atf6b	A	G	17: 34,870,657 (GRCm39)	D367G	probably damaging	Het
Axdnd1	A	G	1: 156,226,104 (GRCm39)	L131P	probably damaging	Het
Bmp8b	T	C	4: 123,018,278 (GRCm39)	V383A	probably damaging	Het
C5ar2	A	G	7: 15,970,868 (GRCm39)	V353A	probably damaging	Het
Ccr5	C	A	9: 123,925,408 (GRCm39)	A337E	probably benign	Het
Cftr	G	A	6: 18,227,953 (GRCm39)	V382I	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Cyp2d12	A	G	15: 82,440,498 (GRCm39)	T96A	probably benign	Het
Diaph3	T	G	14: 87,216,106 (GRCm39)	I465L	probably benign	Het
Fabp3	A	G	4: 130,209,018 (GRCm39)	*134W	probably null	Het
Fgf22	G	T	10: 79,592,696 (GRCm39)	M130I	probably damaging	Het
Flnc	G	A	6: 29,453,690 (GRCm39)	V1792M	probably damaging	Het
Grik3	G	A	4: 125,579,838 (GRCm39)	A528T	possibly damaging	Het
Hecw2	G	A	1: 53,964,850 (GRCm39)	R659W	possibly damaging	Het
Hmbs	C	T	9: 44,250,774 (GRCm39)		probably null	Het
Ift122	T	G	6: 115,868,983 (GRCm39)	L490R	probably damaging	Het
Igkv4-63	T	C	6: 69,355,116 (GRCm39)	H55R	probably damaging	Het
Itga4	A	T	2: 79,086,611 (GRCm39)	N96I	probably damaging	Het
Kcna7	A	T	7: 45,056,063 (GRCm39)	H93L	probably damaging	Het
Klhdc7b	A	G	15: 89,271,562 (GRCm39)	I815V	probably benign	Het
Lcmt1	G	A	7: 123,027,330 (GRCm39)	E298K	probably damaging	Het
Ly6g6f	A	G	17: 35,302,333 (GRCm39)	V68A	possibly damaging	Het
Map3k8	C	T	18: 4,340,762 (GRCm39)	C184Y	probably damaging	Het
Mcemp1	A	G	8: 3,718,340 (GRCm39)	T183A	possibly damaging	Het
Mobp	T	G	9: 119,996,876 (GRCm39)	S2R	probably damaging	Het
Mprip	A	G	11: 59,651,644 (GRCm39)	S1783G	probably benign	Het
Mterf3	C	A	13: 67,076,321 (GRCm39)	A129S	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nr2c1	A	G	10: 94,003,558 (GRCm39)	T239A	probably benign	Het
Odr4	A	G	1: 150,247,909 (GRCm39)	S325P	possibly damaging	Het
Oplah	G	A	15: 76,182,466 (GRCm39)	A963V	probably damaging	Het
Or13a26	A	G	7: 140,284,712 (GRCm39)		probably null	Het
Parp14	C	T	16: 35,661,505 (GRCm39)	S1481N	probably benign	Het
Prxl2a	T	C	14: 40,726,013 (GRCm39)	K44E	possibly damaging	Het
Rictor	C	T	15: 6,816,391 (GRCm39)	T1221M	probably damaging	Het
Rpe	G	A	1: 66,755,163 (GRCm39)	D182N	probably damaging	Het
Slc24a3	C	A	2: 145,448,784 (GRCm39)	P443T	probably damaging	Het
Slc25a47	T	C	12: 108,822,143 (GRCm39)	*311Q	probably null	Het
Sox2	C	G	3: 34,705,142 (GRCm39)	A193G	probably benign	Het
Svep1	T	C	4: 58,057,954 (GRCm39)	S3284G	probably benign	Het
Zfp369	A	T	13: 65,445,194 (GRCm39)	H779L	probably damaging	Het
Zfp513	A	T	5: 31,357,947 (GRCm39)	L144Q	possibly damaging	Het
Zfp791	C	T	8: 85,836,835 (GRCm39)	G343D	probably damaging	Het
Zfp941	A	C	7: 140,388,021 (GRCm39)	I664S	possibly damaging	Het
Zkscan3	A	G	13: 21,578,233 (GRCm39)	V189A	probably damaging	Het

Other mutations in Zfp526

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Zfp526	APN	7	24,924,958 (GRCm39)	missense	possibly damaging	0.89
IGL02983:Zfp526	APN	7	24,923,840 (GRCm39)	missense	probably benign	0.27
IGL03123:Zfp526	APN	7	24,924,049 (GRCm39)	missense	probably benign
R0456:Zfp526	UTSW	7	24,925,637 (GRCm39)	missense	probably damaging	1.00
R1269:Zfp526	UTSW	7	24,923,788 (GRCm39)	missense	probably benign
R1542:Zfp526	UTSW	7	24,925,687 (GRCm39)	missense	probably benign	0.12
R1668:Zfp526	UTSW	7	24,924,967 (GRCm39)	missense	probably benign	0.15
R1742:Zfp526	UTSW	7	24,923,939 (GRCm39)	missense	possibly damaging	0.93
R1870:Zfp526	UTSW	7	24,924,594 (GRCm39)	missense	possibly damaging	0.67
R3791:Zfp526	UTSW	7	24,925,628 (GRCm39)	missense	probably damaging	0.98
R4755:Zfp526	UTSW	7	24,925,064 (GRCm39)	missense	probably benign	0.00
R4833:Zfp526	UTSW	7	24,925,295 (GRCm39)	missense	probably damaging	1.00
R5853:Zfp526	UTSW	7	24,924,601 (GRCm39)	nonsense	probably null
R6061:Zfp526	UTSW	7	24,925,757 (GRCm39)	missense	probably damaging	1.00
R6186:Zfp526	UTSW	7	24,925,561 (GRCm39)	missense	probably benign
R7270:Zfp526	UTSW	7	24,925,345 (GRCm39)	missense	probably damaging	1.00
R7882:Zfp526	UTSW	7	24,920,860 (GRCm39)	unclassified	probably benign
R8084:Zfp526	UTSW	7	24,924,737 (GRCm39)	missense	probably damaging	0.99
R9016:Zfp526	UTSW	7	24,925,264 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTTGTGGCCCATAGACG -3'
(R):5'- AAGAAGCGAAGGTCTTGCCG -3'

Sequencing Primer
(F):5'- ATAGACGGGCCCATACTGC -3'
(R):5'- CGCAGGAGTGACACTGG -3'

Posted On

2016-10-24