Mutagenetix > Incidental Mutation

Incidental Mutation 'R7471:Zfp524'

579192

Institutional Source

Beutler Lab

Gene Symbol

Zfp524

Ensembl Gene

ENSMUSG00000051184

Gene Name

zinc finger protein 524

Synonyms

2300009P13Rik, 0610012F07Rik

MMRRC Submission

045545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5018142-5021487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5021200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 243 (I243V)

Ref Sequence

ENSEMBL: ENSMUSP00000083533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076251] [ENSMUST00000077385] [ENSMUST00000085427] [ENSMUST00000086349] [ENSMUST00000165320] [ENSMUST00000167804] [ENSMUST00000207030] [ENSMUST00000207050] [ENSMUST00000207412] [ENSMUST00000207901] [ENSMUST00000207946] [ENSMUST00000208728] [ENSMUST00000208944] [ENSMUST00000209030] [ENSMUST00000209060]

AlphaFold

Q9D0B1

Predicted Effect

probably benign
Transcript: ENSMUST00000076251

SMART Domains

Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	120	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	220	242	1.28e-3	SMART
ZnF_C2H2	248	270	5.5e-3	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	294	324	N/A	INTRINSIC
ZnF_C2H2	350	372	8.81e-2	SMART
ZnF_C2H2	378	400	6.08e-5	SMART
ZnF_C2H2	407	429	1.79e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	478	495	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	523	542	N/A	INTRINSIC
ZnF_C2H2	546	568	4.47e-3	SMART
ZnF_C2H2	574	596	5.42e-2	SMART
ZnF_C2H2	602	624	1.72e-4	SMART
low complexity region	628	660	N/A	INTRINSIC
ZnF_C2H2	664	686	5.34e-1	SMART
ZnF_C2H2	692	714	2.82e0	SMART
low complexity region	725	745	N/A	INTRINSIC
low complexity region	750	770	N/A	INTRINSIC
low complexity region	772	788	N/A	INTRINSIC
ZnF_C2H2	791	813	1.64e-1	SMART
ZnF_C2H2	819	841	9.3e-1	SMART
ZnF_C2H2	847	869	2.95e-3	SMART
ZnF_C2H2	875	897	3.83e-2	SMART
ZnF_C2H2	903	925	2.05e-2	SMART
ZnF_C2H2	931	953	1.18e-2	SMART
ZnF_C2H2	959	981	1.36e-2	SMART
ZnF_C2H2	988	1010	5.06e-2	SMART
ZnF_C2H2	1016	1038	4.72e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077385

SMART Domains

Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085427

SMART Domains

Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	62	82	N/A	INTRINSIC
low complexity region	120	141	N/A	INTRINSIC
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	220	242	1.28e-3	SMART
ZnF_C2H2	248	270	5.5e-3	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	294	324	N/A	INTRINSIC
ZnF_C2H2	350	372	8.81e-2	SMART
ZnF_C2H2	378	400	6.08e-5	SMART
ZnF_C2H2	407	429	1.79e-2	SMART
ZnF_C2H2	439	461	1.92e-2	SMART
low complexity region	478	495	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	523	542	N/A	INTRINSIC
ZnF_C2H2	546	568	4.47e-3	SMART
ZnF_C2H2	574	596	5.42e-2	SMART
ZnF_C2H2	602	624	1.72e-4	SMART
low complexity region	628	660	N/A	INTRINSIC
ZnF_C2H2	664	686	5.34e-1	SMART
ZnF_C2H2	692	714	2.82e0	SMART
low complexity region	725	745	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086349
AA Change: I243V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184
AA Change: I243V

Domain	Start	End	E-Value	Type
AT_hook	29	41	1.53e2	SMART
AT_hook	51	63	1.09e0	SMART
ZnF_C2H2	109	131	1.16e-1	SMART
ZnF_C2H2	137	159	1.56e-2	SMART
ZnF_C2H2	165	187	4.4e-2	SMART
ZnF_C2H2	193	216	7.26e-3	SMART
low complexity region	272	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165320

SMART Domains

Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167804

SMART Domains

Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207030

Predicted Effect

probably benign
Transcript: ENSMUST00000207050

Predicted Effect

probably benign
Transcript: ENSMUST00000207412

Predicted Effect

probably benign
Transcript: ENSMUST00000207901
AA Change: I243V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000207946

Predicted Effect

probably benign
Transcript: ENSMUST00000208728

Predicted Effect

probably benign
Transcript: ENSMUST00000208944

Predicted Effect

probably benign
Transcript: ENSMUST00000209030
AA Change: I243V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000209060

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,168,608 (GRCm39)		probably null	Het
Ace	T	C	11: 105,864,308 (GRCm39)	V483A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Angptl2	A	T	2: 33,133,751 (GRCm39)	T358S	possibly damaging	Het
Apoh	C	T	11: 108,298,131 (GRCm39)	P144S	probably damaging	Het
Arid1a	A	G	4: 133,408,355 (GRCm39)	W1666R	unknown	Het
Asap3	A	G	4: 135,960,957 (GRCm39)	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,645,977 (GRCm39)	S81P	possibly damaging	Het
Brd10	A	C	19: 29,707,139 (GRCm39)		probably null	Het
C8a	A	G	4: 104,674,822 (GRCm39)	S550P	probably benign	Het
Cacna2d1	C	G	5: 16,139,973 (GRCm39)		probably benign	Het
Ccdc170	A	G	10: 4,470,803 (GRCm39)	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197 (GRCm39)	K2429I	probably damaging	Het
Chd8	T	C	14: 52,441,569 (GRCm39)	N2181S	probably benign	Het
Cimap1c	C	T	9: 56,759,783 (GRCm39)		probably null	Het
Clip3	T	C	7: 30,001,377 (GRCm39)	V342A	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,393,799 (GRCm39)	F139S	probably damaging	Het
Dclre1b	T	A	3: 103,710,430 (GRCm39)	R494W	probably benign	Het
Dicer1	A	G	12: 104,660,969 (GRCm39)	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,458,858 (GRCm39)	L3760P	probably damaging	Het
Dock1	A	G	7: 134,765,072 (GRCm39)	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,742 (GRCm39)	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,713,675 (GRCm39)	M215I	probably benign	Het
Dst	A	T	1: 34,233,651 (GRCm39)	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,796,365 (GRCm39)	Y358F		Het
Ermp1	A	T	19: 29,590,054 (GRCm39)	M853K	probably benign	Het
Hace1	T	G	10: 45,577,075 (GRCm39)	I823S	probably benign	Het
Hectd3	A	T	4: 116,853,785 (GRCm39)	Y227F	probably benign	Het
Hells	A	G	19: 38,945,501 (GRCm39)	N580S	probably benign	Het
Igkv12-44	A	G	6: 69,791,718 (GRCm39)	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,623,122 (GRCm39)	D405G	probably damaging	Het
Itsn2	G	A	12: 4,758,198 (GRCm39)	R1508H	probably benign	Het
Limk1	A	T	5: 134,686,825 (GRCm39)		probably null	Het
Lingo1	T	A	9: 56,528,167 (GRCm39)	K147*	probably null	Het
Ltn1	T	C	16: 87,194,787 (GRCm39)	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,691,307 (GRCm39)	D298G	possibly damaging	Het
Macf1	A	T	4: 123,366,082 (GRCm39)	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,219,489 (GRCm39)	D114G	probably benign	Het
Med15	A	T	16: 17,540,729 (GRCm39)	W6R	probably benign	Het
Mrps34	T	C	17: 25,114,431 (GRCm39)	L97P	probably damaging	Het
Myrfl	A	T	10: 116,697,417 (GRCm39)	F36I	possibly damaging	Het
Nifk	G	A	1: 118,260,204 (GRCm39)	S253N	probably damaging	Het
Nmnat1	T	A	4: 149,557,758 (GRCm39)	T95S	probably damaging	Het
Oasl1	T	A	5: 115,073,985 (GRCm39)	I298N	probably damaging	Het
Or51a8	A	G	7: 102,549,760 (GRCm39)	Y62C	probably benign	Het
Or56b35	T	G	7: 104,963,712 (GRCm39)	L167R	probably damaging	Het
Or8g37	A	T	9: 39,731,423 (GRCm39)	M163L	probably benign	Het
Polr2b	C	T	5: 77,468,913 (GRCm39)	R230*	probably null	Het
Prkra	T	A	2: 76,477,545 (GRCm39)	E53D	probably benign	Het
Rasgrp4	T	A	7: 28,845,405 (GRCm39)	L376Q	probably damaging	Het
Rwdd3	A	G	3: 120,964,961 (GRCm39)	S65P	probably benign	Het
Satb1	G	A	17: 52,090,029 (GRCm39)	P273S	probably damaging	Het
Scg3	T	C	9: 75,589,374 (GRCm39)	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,117,724 (GRCm39)	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,250,701 (GRCm39)	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,108,439 (GRCm39)	A661V	possibly damaging	Het
Stk36	A	G	1: 74,673,479 (GRCm39)	N996S	unknown	Het
Tbca	A	T	13: 94,968,923 (GRCm39)	I37F	probably damaging	Het
Tc2n	A	T	12: 101,672,716 (GRCm39)	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,333,263 (GRCm39)	S243C	probably damaging	Het
Tjp1	T	C	7: 64,964,438 (GRCm39)	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,299,324 (GRCm39)		probably benign	Het
Tob1	T	A	11: 94,104,708 (GRCm39)	D81E	probably benign	Het
Ttpal	T	A	2: 163,448,945 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,534,787 (GRCm39)		probably null	Het
Vmn1r235	A	G	17: 21,482,658 (GRCm39)	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,242,850 (GRCm39)	L231*	probably null	Het
Xirp1	G	A	9: 119,848,176 (GRCm39)	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,664,682 (GRCm39)	T514A	probably damaging	Het
Zfp655	T	A	5: 145,181,542 (GRCm39)	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,667,388 (GRCm39)	K85N	possibly damaging	Het

Other mutations in Zfp524

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02061:Zfp524	APN	7	5,020,871 (GRCm39)	missense	probably damaging	1.00
IGL02433:Zfp524	APN	7	5,021,091 (GRCm39)	missense	possibly damaging	0.81
IGL02644:Zfp524	APN	7	5,020,479 (GRCm39)	missense	probably damaging	0.99
R2211:Zfp524	UTSW	7	5,020,918 (GRCm39)	missense	probably damaging	1.00
R3755:Zfp524	UTSW	7	5,020,884 (GRCm39)	missense	probably damaging	1.00
R4579:Zfp524	UTSW	7	5,021,347 (GRCm39)	missense	probably benign
R5022:Zfp524	UTSW	7	5,021,416 (GRCm39)	missense	probably benign
R5356:Zfp524	UTSW	7	5,021,432 (GRCm39)	missense	probably benign
R5580:Zfp524	UTSW	7	5,021,416 (GRCm39)	missense	probably benign
R7076:Zfp524	UTSW	7	5,020,895 (GRCm39)	missense	possibly damaging	0.72
R7199:Zfp524	UTSW	7	5,020,883 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TAACATCCATGCTGGCCTTAG -3'
(R):5'- CCTTCCATGGTGGGAATACC -3'

Sequencing Primer
(F):5'- AGGGGAGCTCGCACATCAC -3'
(R):5'- TACCACCAGAAACAAGGGTGTC -3'

Posted On

2019-10-07