Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Zfp423'

451217

Institutional Source

Beutler Lab

Gene Symbol

Zfp423

Ensembl Gene

ENSMUSG00000045333

Gene Name

zinc finger protein 423

Synonyms

Roaz, Zfp104, Ebfaz, ataxia1

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R5717 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

88388438-88686223 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 88413187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052250] [ENSMUST00000109655] [ENSMUST00000165770]

AlphaFold

Q80TS5

Predicted Effect

probably null
Transcript: ENSMUST00000052250

SMART Domains

Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
ZnF_C2H2	54	75	5.07e0	SMART
low complexity region	107	123	N/A	INTRINSIC
ZnF_C2H2	125	147	1.28e-3	SMART
ZnF_C2H2	153	175	1.64e-1	SMART
ZnF_C2H2	181	203	2.05e-2	SMART
ZnF_C2H2	209	231	3.21e-4	SMART
ZnF_C2H2	250	273	5.42e-2	SMART
ZnF_C2H2	282	305	1.76e-1	SMART
ZnF_C2H2	310	332	8.67e-1	SMART
low complexity region	350	364	N/A	INTRINSIC
ZnF_C2H2	396	420	1.16e-1	SMART
ZnF_C2H2	428	451	3.52e-1	SMART
ZnF_C2H2	467	490	7.9e-4	SMART
low complexity region	492	503	N/A	INTRINSIC
ZnF_C2H2	504	527	2.53e-2	SMART
ZnF_C2H2	550	575	3.99e0	SMART
low complexity region	591	602	N/A	INTRINSIC
ZnF_C2H2	619	641	3.16e-3	SMART
ZnF_C2H2	649	671	5.81e-2	SMART
ZnF_C2H2	679	702	4.87e-4	SMART
ZnF_C2H2	707	730	7.26e-3	SMART
ZnF_C2H2	737	760	4.79e-3	SMART
ZnF_C2H2	768	790	1.36e-2	SMART
ZnF_C2H2	794	817	4.72e-2	SMART
ZnF_C2H2	873	896	4.12e0	SMART
ZnF_C2H2	917	939	5.59e-4	SMART
ZnF_C2H2	946	968	6.42e-4	SMART
ZnF_C2H2	975	997	4.94e0	SMART
ZnF_C2H2	1007	1029	4.99e1	SMART
Pfam:zf-C2H2_6	1050	1068	1.6e-1	PFAM
ZnF_C2H2	1107	1130	1.12e-3	SMART
ZnF_C2H2	1155	1177	1.45e-2	SMART
ZnF_C2H2	1185	1207	5.72e-1	SMART
ZnF_C2H2	1216	1239	1.18e-2	SMART
ZnF_C2H2	1246	1269	4.05e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109655

SMART Domains

Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333

Domain	Start	End	E-Value	Type
low complexity region	60	72	N/A	INTRINSIC
ZnF_C2H2	75	96	5.07e0	SMART
low complexity region	128	144	N/A	INTRINSIC
ZnF_C2H2	146	168	1.28e-3	SMART
ZnF_C2H2	174	196	1.64e-1	SMART
ZnF_C2H2	202	224	2.05e-2	SMART
ZnF_C2H2	230	252	3.21e-4	SMART
ZnF_C2H2	271	294	5.42e-2	SMART
ZnF_C2H2	303	326	1.76e-1	SMART
ZnF_C2H2	331	353	8.67e-1	SMART
low complexity region	371	385	N/A	INTRINSIC
ZnF_C2H2	417	441	1.16e-1	SMART
ZnF_C2H2	449	472	3.52e-1	SMART
ZnF_C2H2	488	511	7.9e-4	SMART
low complexity region	513	524	N/A	INTRINSIC
ZnF_C2H2	525	548	2.53e-2	SMART
ZnF_C2H2	571	596	3.99e0	SMART
low complexity region	612	623	N/A	INTRINSIC
ZnF_C2H2	640	662	3.16e-3	SMART
ZnF_C2H2	670	692	5.81e-2	SMART
ZnF_C2H2	700	723	4.87e-4	SMART
ZnF_C2H2	728	751	7.26e-3	SMART
ZnF_C2H2	758	781	4.79e-3	SMART
ZnF_C2H2	789	811	1.36e-2	SMART
ZnF_C2H2	815	838	4.72e-2	SMART
ZnF_C2H2	894	917	4.12e0	SMART
ZnF_C2H2	938	960	5.59e-4	SMART
ZnF_C2H2	967	989	6.42e-4	SMART
ZnF_C2H2	996	1018	4.94e0	SMART
ZnF_C2H2	1028	1050	4.99e1	SMART
ZnF_C2H2	1128	1151	1.12e-3	SMART
ZnF_C2H2	1176	1198	1.45e-2	SMART
ZnF_C2H2	1206	1228	5.72e-1	SMART
ZnF_C2H2	1237	1260	1.18e-2	SMART
ZnF_C2H2	1267	1290	4.05e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165770

SMART Domains

Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
ZnF_C2H2	21	43	1.28e-3	SMART
ZnF_C2H2	49	71	1.64e-1	SMART
ZnF_C2H2	77	99	2.05e-2	SMART
ZnF_C2H2	105	127	3.21e-4	SMART
ZnF_C2H2	146	169	5.42e-2	SMART
ZnF_C2H2	178	201	1.76e-1	SMART
ZnF_C2H2	206	228	8.67e-1	SMART
low complexity region	246	260	N/A	INTRINSIC
ZnF_C2H2	292	316	1.16e-1	SMART
ZnF_C2H2	324	347	3.52e-1	SMART
ZnF_C2H2	363	386	7.9e-4	SMART
low complexity region	388	399	N/A	INTRINSIC
ZnF_C2H2	400	423	2.53e-2	SMART
ZnF_C2H2	446	471	3.99e0	SMART
low complexity region	487	498	N/A	INTRINSIC
ZnF_C2H2	515	537	3.16e-3	SMART
ZnF_C2H2	545	567	5.81e-2	SMART
ZnF_C2H2	575	598	4.87e-4	SMART
ZnF_C2H2	603	626	7.26e-3	SMART
ZnF_C2H2	633	656	4.79e-3	SMART
ZnF_C2H2	664	686	1.36e-2	SMART
ZnF_C2H2	690	713	4.72e-2	SMART
ZnF_C2H2	769	792	4.12e0	SMART
ZnF_C2H2	813	835	5.59e-4	SMART
ZnF_C2H2	842	864	6.42e-4	SMART
ZnF_C2H2	871	893	4.94e0	SMART
ZnF_C2H2	903	925	4.99e1	SMART
Pfam:zf-C2H2_6	946	964	2.5e-1	PFAM
ZnF_C2H2	1003	1026	1.12e-3	SMART
ZnF_C2H2	1051	1073	1.45e-2	SMART
ZnF_C2H2	1081	1103	5.72e-1	SMART
ZnF_C2H2	1112	1135	1.18e-2	SMART
ZnF_C2H2	1142	1165	4.05e-1	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,148,549 (GRCm39)	R190C	probably damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Dicer1	T	A	12: 104,671,387 (GRCm39)	Y961F	probably damaging	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Rps25	A	G	9: 44,320,047 (GRCm39)	Y23C	probably benign	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Slc49a4	A	G	16: 35,539,799 (GRCm39)	F341L	probably benign	Het
Stoml3	A	T	3: 53,412,937 (GRCm39)	Q197L	probably damaging	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	probably damaging	Het

Other mutations in Zfp423

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Zfp423	APN	8	88,508,239 (GRCm39)	splice site	probably null
IGL01359:Zfp423	APN	8	88,507,290 (GRCm39)	missense	probably damaging	1.00
IGL01780:Zfp423	APN	8	88,508,136 (GRCm39)	missense	probably damaging	1.00
IGL02250:Zfp423	APN	8	88,509,883 (GRCm39)	missense	probably damaging	1.00
IGL02301:Zfp423	APN	8	88,508,202 (GRCm39)	missense	probably damaging	1.00
IGL02320:Zfp423	APN	8	88,508,230 (GRCm39)	missense	probably damaging	1.00
IGL02804:Zfp423	APN	8	88,509,285 (GRCm39)	missense	probably benign	0.02
IGL03090:Zfp423	APN	8	88,508,071 (GRCm39)	missense	probably damaging	1.00
IGL03198:Zfp423	APN	8	88,508,304 (GRCm39)	missense	possibly damaging	0.73
IGL03383:Zfp423	APN	8	88,586,080 (GRCm39)	nonsense	probably null
swell	UTSW	8	88,413,187 (GRCm39)	splice site	probably null
Temptation	UTSW	8	88,508,381 (GRCm39)	missense	probably benign	0.25
trials	UTSW	8	88,507,341 (GRCm39)	missense	probably damaging	1.00
R0110:Zfp423	UTSW	8	88,508,887 (GRCm39)	missense	possibly damaging	0.60
R0142:Zfp423	UTSW	8	88,506,968 (GRCm39)	nonsense	probably null
R0256:Zfp423	UTSW	8	88,500,262 (GRCm39)	nonsense	probably null
R0538:Zfp423	UTSW	8	88,508,713 (GRCm39)	missense	probably damaging	0.99
R0542:Zfp423	UTSW	8	88,507,237 (GRCm39)	missense	probably damaging	1.00
R0614:Zfp423	UTSW	8	88,508,742 (GRCm39)	missense	probably damaging	1.00
R1179:Zfp423	UTSW	8	88,414,700 (GRCm39)	missense	probably damaging	0.97
R1417:Zfp423	UTSW	8	88,500,284 (GRCm39)	splice site	probably null
R1429:Zfp423	UTSW	8	88,413,070 (GRCm39)	missense	probably damaging	0.99
R1570:Zfp423	UTSW	8	88,509,186 (GRCm39)	missense	probably benign	0.37
R2013:Zfp423	UTSW	8	88,509,025 (GRCm39)	missense	probably benign	0.43
R2043:Zfp423	UTSW	8	88,509,246 (GRCm39)	missense	probably damaging	1.00
R2064:Zfp423	UTSW	8	88,507,986 (GRCm39)	missense	probably benign	0.04
R2108:Zfp423	UTSW	8	88,507,806 (GRCm39)	missense	possibly damaging	0.73
R2358:Zfp423	UTSW	8	88,507,179 (GRCm39)	missense	possibly damaging	0.56
R3177:Zfp423	UTSW	8	88,508,959 (GRCm39)	missense	probably damaging	1.00
R3277:Zfp423	UTSW	8	88,508,959 (GRCm39)	missense	probably damaging	1.00
R3738:Zfp423	UTSW	8	88,507,972 (GRCm39)	missense	probably damaging	1.00
R3739:Zfp423	UTSW	8	88,507,972 (GRCm39)	missense	probably damaging	1.00
R3773:Zfp423	UTSW	8	88,507,140 (GRCm39)	missense	probably benign	0.03
R4034:Zfp423	UTSW	8	88,507,972 (GRCm39)	missense	probably damaging	1.00
R4425:Zfp423	UTSW	8	88,509,601 (GRCm39)	missense	probably damaging	1.00
R4611:Zfp423	UTSW	8	88,414,709 (GRCm39)	missense	possibly damaging	0.90
R4700:Zfp423	UTSW	8	88,508,338 (GRCm39)	splice site	probably null
R4753:Zfp423	UTSW	8	88,508,074 (GRCm39)	missense	probably benign	0.00
R4818:Zfp423	UTSW	8	88,631,128 (GRCm39)	missense	probably benign	0.00
R5026:Zfp423	UTSW	8	88,507,302 (GRCm39)	missense	probably damaging	1.00
R5190:Zfp423	UTSW	8	88,509,091 (GRCm39)	missense	probably damaging	1.00
R5243:Zfp423	UTSW	8	88,500,275 (GRCm39)	missense	probably benign	0.03
R5284:Zfp423	UTSW	8	88,508,305 (GRCm39)	missense	possibly damaging	0.73
R5586:Zfp423	UTSW	8	88,585,968 (GRCm39)	missense	possibly damaging	0.93
R5601:Zfp423	UTSW	8	88,508,637 (GRCm39)	missense	probably damaging	1.00
R5671:Zfp423	UTSW	8	88,508,955 (GRCm39)	missense	probably damaging	0.99
R5801:Zfp423	UTSW	8	88,585,990 (GRCm39)	missense	probably damaging	0.99
R5917:Zfp423	UTSW	8	88,508,860 (GRCm39)	nonsense	probably null
R5985:Zfp423	UTSW	8	88,508,774 (GRCm39)	missense	possibly damaging	0.83
R6111:Zfp423	UTSW	8	88,509,315 (GRCm39)	missense	probably damaging	0.99
R6306:Zfp423	UTSW	8	88,508,662 (GRCm39)	missense	possibly damaging	0.64
R6770:Zfp423	UTSW	8	88,508,445 (GRCm39)	missense	probably damaging	0.99
R6970:Zfp423	UTSW	8	88,530,407 (GRCm39)	missense	probably benign	0.00
R7029:Zfp423	UTSW	8	88,414,694 (GRCm39)	missense	probably damaging	0.99
R7060:Zfp423	UTSW	8	88,509,507 (GRCm39)	missense	probably damaging	1.00
R7074:Zfp423	UTSW	8	88,509,060 (GRCm39)	missense	probably benign	0.00
R7121:Zfp423	UTSW	8	88,507,489 (GRCm39)	missense	probably damaging	1.00
R7242:Zfp423	UTSW	8	88,631,155 (GRCm39)	missense	probably benign	0.07
R7359:Zfp423	UTSW	8	88,508,871 (GRCm39)	missense	possibly damaging	0.52
R7426:Zfp423	UTSW	8	88,507,341 (GRCm39)	missense	probably damaging	1.00
R7540:Zfp423	UTSW	8	88,414,695 (GRCm39)	missense	possibly damaging	0.95
R7640:Zfp423	UTSW	8	88,507,905 (GRCm39)	missense	probably damaging	1.00
R7767:Zfp423	UTSW	8	88,507,512 (GRCm39)	missense	probably damaging	1.00
R7938:Zfp423	UTSW	8	88,622,304 (GRCm39)	missense	unknown
R7986:Zfp423	UTSW	8	88,506,978 (GRCm39)	missense	probably benign	0.04
R8347:Zfp423	UTSW	8	88,509,784 (GRCm39)	missense	probably damaging	0.99
R8356:Zfp423	UTSW	8	88,509,910 (GRCm39)	missense	probably damaging	1.00
R8676:Zfp423	UTSW	8	88,509,338 (GRCm39)	missense	probably benign	0.04
R8710:Zfp423	UTSW	8	88,507,549 (GRCm39)	missense	possibly damaging	0.74
R8794:Zfp423	UTSW	8	88,507,857 (GRCm39)	missense	probably damaging	1.00
R8832:Zfp423	UTSW	8	88,507,827 (GRCm39)	missense	probably damaging	0.98
R9018:Zfp423	UTSW	8	88,508,381 (GRCm39)	missense	probably benign	0.25
R9182:Zfp423	UTSW	8	88,508,742 (GRCm39)	missense	probably damaging	0.99
R9309:Zfp423	UTSW	8	88,509,688 (GRCm39)	missense	probably damaging	0.99
R9312:Zfp423	UTSW	8	88,508,569 (GRCm39)	missense	probably damaging	1.00
R9453:Zfp423	UTSW	8	88,508,251 (GRCm39)	missense	probably damaging	1.00
R9469:Zfp423	UTSW	8	88,509,519 (GRCm39)	missense	probably damaging	0.99
R9480:Zfp423	UTSW	8	88,631,115 (GRCm39)	critical splice donor site	probably null
R9483:Zfp423	UTSW	8	88,507,725 (GRCm39)	missense	possibly damaging	0.90
R9510:Zfp423	UTSW	8	88,510,041 (GRCm39)	missense	possibly damaging	0.94
R9521:Zfp423	UTSW	8	88,509,033 (GRCm39)	missense	probably damaging	1.00
R9606:Zfp423	UTSW	8	88,414,595 (GRCm39)	missense	probably damaging	0.99
R9789:Zfp423	UTSW	8	88,506,877 (GRCm39)	missense	probably benign	0.03
Z1176:Zfp423	UTSW	8	88,586,048 (GRCm39)	missense	possibly damaging	0.49
Z1177:Zfp423	UTSW	8	88,507,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATACACAATGCCTCTGGTGCATG -3'
(R):5'- GCCTAACCAAGCGCTACTTC -3'

Sequencing Primer
(F):5'- ATGGGGGCTGACACACTCAC -3'
(R):5'- GAGAGCTTAACTGTCTGTCCCAAG -3'

Posted On

2017-01-03