Mutagenetix > Incidental Mutation

Incidental Mutation 'R6186:Zfp526'

502165

Institutional Source

Beutler Lab

Gene Symbol

Zfp526

Ensembl Gene

ENSMUSG00000046541

Gene Name

zinc finger protein 526

Synonyms

D030024H03Rik

MMRRC Submission

044326-MU

Accession Numbers

Essential gene?

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

Stock #

R6186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24920850-24926932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24925561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 607 (T607A)

Ref Sequence

ENSEMBL: ENSMUSP00000053567 (fasta)

Gene Model

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

AlphaFold

Q8BI66

Predicted Effect

probably benign
Transcript: ENSMUST00000055604
AA Change: T607A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053567
Gene: ENSMUSG00000046541
AA Change: T607A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,298,502 (GRCm39)	S409P	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akap8l	C	T	17: 32,552,018 (GRCm39)	V420I	probably benign	Het
Ankrd36	T	G	11: 5,593,812 (GRCm39)	D472E	possibly damaging	Het
Apbb1	T	C	7: 105,216,933 (GRCm39)	E250G	probably damaging	Het
Cacna2d4	G	A	6: 119,258,650 (GRCm39)	E579K	possibly damaging	Het
Capn7	G	T	14: 31,092,875 (GRCm39)	G780W	probably damaging	Het
Celsr1	T	C	15: 85,805,394 (GRCm39)	E2419G	possibly damaging	Het
Cep164	A	T	9: 45,705,407 (GRCm39)	S363R	probably damaging	Het
Cfap221	T	A	1: 119,862,340 (GRCm39)	I581F	probably damaging	Het
Cog2	C	A	8: 125,273,425 (GRCm39)	T588N	probably damaging	Het
Cyp2a5	T	C	7: 26,542,813 (GRCm39)		probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Evx1	T	C	6: 52,291,203 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,845,206 (GRCm39)	H346R	unknown	Het
Fam53b	T	A	7: 132,317,445 (GRCm39)	D399V	possibly damaging	Het
Fcho2	T	A	13: 98,951,591 (GRCm39)	N9I	probably benign	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fkbpl	T	C	17: 34,865,153 (GRCm39)	F307S	probably benign	Het
Fn1	A	G	1: 71,676,449 (GRCm39)	I594T	probably damaging	Het
Inpp4b	T	A	8: 82,772,863 (GRCm39)	V719E	probably damaging	Het
Ldlr	C	T	9: 21,635,055 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,377,968 (GRCm39)	V1419A	probably damaging	Het
Mapkap1	A	G	2: 34,453,126 (GRCm39)	T340A	possibly damaging	Het
Mark2	A	G	19: 7,260,567 (GRCm39)	V403A	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Mrtfa	T	C	15: 80,900,853 (GRCm39)	K546R	probably damaging	Het
Myo1h	C	T	5: 114,457,864 (GRCm39)	T125I	possibly damaging	Het
Ndufa8	A	G	2: 35,929,752 (GRCm39)	V118A	probably benign	Het
Nphs1	A	G	7: 30,165,059 (GRCm39)	T551A	probably damaging	Het
Or2k2	T	C	4: 58,784,948 (GRCm39)	Y258C	probably damaging	Het
Or4k15c	T	A	14: 50,321,982 (GRCm39)	D52V	probably damaging	Het
Pcm1	T	C	8: 41,746,830 (GRCm39)	L1343P	probably benign	Het
Pdcd1	T	A	1: 93,967,846 (GRCm39)	R202*	probably null	Het
Pramel52-ps	T	A	5: 94,531,835 (GRCm39)	Y240N	probably benign	Het
Prkab2	A	G	3: 97,571,307 (GRCm39)		probably null	Het
Ptdss2	T	C	7: 140,734,862 (GRCm39)		probably benign	Het
Rap1b	G	T	10: 117,656,457 (GRCm39)	F78L	probably damaging	Het
Rbl2	C	T	8: 91,833,358 (GRCm39)	T711I	probably damaging	Het
Rhobtb2	A	G	14: 70,035,693 (GRCm39)	I126T	probably damaging	Het
Rimoc1	C	A	15: 4,015,851 (GRCm39)	D238Y	possibly damaging	Het
Rnf123	A	C	9: 107,947,157 (GRCm39)	S210A	possibly damaging	Het
Shank1	T	A	7: 44,001,990 (GRCm39)	F1228L	probably benign	Het
Spata31f3	T	C	4: 42,872,000 (GRCm39)	K125R	possibly damaging	Het
Sumo1	C	A	1: 59,683,729 (GRCm39)	V38L	probably benign	Het
Sycp2	C	T	2: 178,025,353 (GRCm39)	S363N	probably damaging	Het
Tbx2	G	T	11: 85,728,672 (GRCm39)	E352*	probably null	Het
Timm44	T	C	8: 4,316,824 (GRCm39)	N270D	probably damaging	Het
Topaz1	A	T	9: 122,577,891 (GRCm39)	Q267L	probably benign	Het
Trp63	T	C	16: 25,695,483 (GRCm39)		probably benign	Het
Ushbp1	T	A	8: 71,843,647 (GRCm39)	T264S	possibly damaging	Het
Vav3	A	G	3: 109,423,383 (GRCm39)	Y334C	probably damaging	Het
Wdr36	G	C	18: 32,985,954 (GRCm39)	A553P	probably benign	Het
Zfhx2	A	T	14: 55,300,617 (GRCm39)	I2378K	probably damaging	Het
Zfp276	T	A	8: 123,982,672 (GRCm39)	Y145*	probably null	Het
Zfp458	T	C	13: 67,405,701 (GRCm39)	E246G	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
R5549:Zfp526	UTSW	7	24,925,109 (GRCm39)	missense	possibly damaging	0.82
R5853:Zfp526	UTSW	7	24,924,601 (GRCm39)	nonsense	probably null
R6061:Zfp526	UTSW	7	24,925,757 (GRCm39)	missense	probably damaging	1.00
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'- TGGCAAGCGCTTTACACAGAG -3'
(R):5'- GTATCCAACTGCAACAGTCCG -3'

Sequencing Primer
(F):5'- GCTTTACACAGAGCTCCAACCTG -3'
(R):5'- TGCAACAGTCCGCTCGC -3'

Posted On

2018-02-27