Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Zfp524'

271391

Institutional Source

Beutler Lab

Gene Symbol

Zfp524

Ensembl Gene

ENSMUSG00000051184

Gene Name

zinc finger protein 524

Synonyms

2300009P13Rik, 0610012F07Rik

MMRRC Submission

040738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5018142-5021487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5020884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 137 (H137Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147095 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000086349
AA Change: H137Q

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

SMART Domains

Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184
AA Change: H137Q

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 damaging
Transcript: ENSMUST00000207901
AA Change: H137Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209030
AA Change: H137Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207050
AA Change: H137Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207845

Predicted Effect

probably benign
Transcript: ENSMUST00000207946

Predicted Effect

probably benign
Transcript: ENSMUST00000208944

Predicted Effect

probably benign
Transcript: ENSMUST00000209060

Predicted Effect

probably benign
Transcript: ENSMUST00000208728

Predicted Effect

probably benign
Transcript: ENSMUST00000207412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207362

Meta Mutation Damage Score

0.2259

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,340,961 (GRCm39)	I146N	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Kdm3b	T	C	18: 34,941,349 (GRCm39)	L280S	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,816,143 (GRCm39)	I219T	probably damaging	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Snap23	T	A	2: 120,416,726 (GRCm39)	C79S	probably damaging	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably 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
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
R7471:Zfp524	UTSW	7	5,021,200 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGATCGATGATCAGGGTGTTCC -3'
(R):5'- TTTGTAATGGCGCCGGAGAG -3'

Sequencing Primer
(F):5'- TTCCTTATACAGTTCCTGAAGGG -3'
(R):5'- GTGAAGCGCACCCTACATGAG -3'

Posted On

2015-03-18