Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Zfp423'

661389

Institutional Source

Beutler Lab

Gene Symbol

Zfp423

Ensembl Gene

ENSMUSG00000045333

Gene Name

zinc finger protein 423

Synonyms

Zfp104, ataxia1, Ebfaz, Roaz

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87661810-87959595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87782710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 335 (M335I)

Ref Sequence

ENSEMBL: ENSMUSP00000105282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052250] [ENSMUST00000109655] [ENSMUST00000165770] [ENSMUST00000174249] [ENSMUST00000174764]

AlphaFold

Q80TS5

Predicted Effect

probably benign
Transcript: ENSMUST00000052250
AA Change: M314I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: M314I

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 benign
Transcript: ENSMUST00000109655
AA Change: M335I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: M335I

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 benign
Transcript: ENSMUST00000165770
AA Change: M210I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333
AA Change: M210I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174249

SMART Domains

Protein: ENSMUSP00000134103
Gene: ENSMUSG00000045333

Domain	Start	End	E-Value	Type
low complexity region	60	76	N/A	INTRINSIC
ZnF_C2H2	78	100	1.28e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174764

SMART Domains

Protein: ENSMUSP00000134575
Gene: ENSMUSG00000045333

Domain	Start	End	E-Value	Type
low complexity region	63	75	N/A	INTRINSIC
ZnF_C2H2	78	99	5.07e0	SMART
low complexity region	131	147	N/A	INTRINSIC
ZnF_C2H2	149	171	1.28e-3	SMART
ZnF_C2H2	177	199	1.64e-1	SMART
ZnF_C2H2	205	227	2.05e-2	SMART
Pfam:zf-C2H2_6	232	244	2.5e-1	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	Het

Other mutations in Zfp423

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Zfp423	APN	8	87781611	splice site	probably null
IGL01359:Zfp423	APN	8	87780662	missense	probably damaging	1.00
IGL01780:Zfp423	APN	8	87781508	missense	probably damaging	1.00
IGL02250:Zfp423	APN	8	87783255	missense	probably damaging	1.00
IGL02301:Zfp423	APN	8	87781574	missense	probably damaging	1.00
IGL02320:Zfp423	APN	8	87781602	missense	probably damaging	1.00
IGL02804:Zfp423	APN	8	87782657	missense	probably benign	0.02
IGL03090:Zfp423	APN	8	87781443	missense	probably damaging	1.00
IGL03198:Zfp423	APN	8	87781676	missense	possibly damaging	0.73
IGL03383:Zfp423	APN	8	87859452	nonsense	probably null
swell	UTSW	8	87686559	splice site	probably null
Temptation	UTSW	8	87781753	missense	probably benign	0.25
trials	UTSW	8	87780713	missense	probably damaging	1.00
R0110:Zfp423	UTSW	8	87782259	missense	possibly damaging	0.60
R0142:Zfp423	UTSW	8	87780340	nonsense	probably null
R0256:Zfp423	UTSW	8	87773634	nonsense	probably null
R0538:Zfp423	UTSW	8	87782085	missense	probably damaging	0.99
R0542:Zfp423	UTSW	8	87780609	missense	probably damaging	1.00
R0614:Zfp423	UTSW	8	87782114	missense	probably damaging	1.00
R1179:Zfp423	UTSW	8	87688072	missense	probably damaging	0.97
R1417:Zfp423	UTSW	8	87773656	splice site	probably null
R1429:Zfp423	UTSW	8	87686442	missense	probably damaging	0.99
R1570:Zfp423	UTSW	8	87782558	missense	probably benign	0.37
R2013:Zfp423	UTSW	8	87782397	missense	probably benign	0.43
R2043:Zfp423	UTSW	8	87782618	missense	probably damaging	1.00
R2064:Zfp423	UTSW	8	87781358	missense	probably benign	0.04
R2108:Zfp423	UTSW	8	87781178	missense	possibly damaging	0.73
R2358:Zfp423	UTSW	8	87780551	missense	possibly damaging	0.56
R3177:Zfp423	UTSW	8	87782331	missense	probably damaging	1.00
R3277:Zfp423	UTSW	8	87782331	missense	probably damaging	1.00
R3738:Zfp423	UTSW	8	87781344	missense	probably damaging	1.00
R3739:Zfp423	UTSW	8	87781344	missense	probably damaging	1.00
R3773:Zfp423	UTSW	8	87780512	missense	probably benign	0.03
R4034:Zfp423	UTSW	8	87781344	missense	probably damaging	1.00
R4425:Zfp423	UTSW	8	87782973	missense	probably damaging	1.00
R4611:Zfp423	UTSW	8	87688081	missense	possibly damaging	0.90
R4700:Zfp423	UTSW	8	87781710	splice site	probably null
R4753:Zfp423	UTSW	8	87781446	missense	probably benign	0.00
R4818:Zfp423	UTSW	8	87904500	missense	probably benign	0.00
R5026:Zfp423	UTSW	8	87780674	missense	probably damaging	1.00
R5190:Zfp423	UTSW	8	87782463	missense	probably damaging	1.00
R5243:Zfp423	UTSW	8	87773647	missense	probably benign	0.03
R5284:Zfp423	UTSW	8	87781677	missense	possibly damaging	0.73
R5586:Zfp423	UTSW	8	87859340	missense	possibly damaging	0.93
R5601:Zfp423	UTSW	8	87782009	missense	probably damaging	1.00
R5671:Zfp423	UTSW	8	87782327	missense	probably damaging	0.99
R5717:Zfp423	UTSW	8	87686559	splice site	probably null
R5801:Zfp423	UTSW	8	87859362	missense	probably damaging	0.99
R5917:Zfp423	UTSW	8	87782232	nonsense	probably null
R5985:Zfp423	UTSW	8	87782146	missense	possibly damaging	0.83
R6111:Zfp423	UTSW	8	87782687	missense	probably damaging	0.99
R6306:Zfp423	UTSW	8	87782034	missense	possibly damaging	0.64
R6770:Zfp423	UTSW	8	87781817	missense	probably damaging	0.99
R6970:Zfp423	UTSW	8	87803779	missense	probably benign	0.00
R7029:Zfp423	UTSW	8	87688066	missense	probably damaging	0.99
R7060:Zfp423	UTSW	8	87782879	missense	probably damaging	1.00
R7074:Zfp423	UTSW	8	87782432	missense	probably benign	0.00
R7121:Zfp423	UTSW	8	87780861	missense	probably damaging	1.00
R7242:Zfp423	UTSW	8	87904527	missense	probably benign	0.07
R7359:Zfp423	UTSW	8	87782243	missense	possibly damaging	0.52
R7426:Zfp423	UTSW	8	87780713	missense	probably damaging	1.00
R7540:Zfp423	UTSW	8	87688067	missense	possibly damaging	0.95
R7640:Zfp423	UTSW	8	87781277	missense	probably damaging	1.00
R7767:Zfp423	UTSW	8	87780884	missense	probably damaging	1.00
R7938:Zfp423	UTSW	8	87895676	missense	unknown
R7986:Zfp423	UTSW	8	87780350	missense	probably benign	0.04
R8347:Zfp423	UTSW	8	87783156	missense	probably damaging	0.99
R8356:Zfp423	UTSW	8	87783282	missense	probably damaging	1.00
R8710:Zfp423	UTSW	8	87780921	missense	possibly damaging	0.74
R8794:Zfp423	UTSW	8	87781229	missense	probably damaging	1.00
R8832:Zfp423	UTSW	8	87781199	missense	probably damaging	0.98
R9018:Zfp423	UTSW	8	87781753	missense	probably benign	0.25
R9182:Zfp423	UTSW	8	87782114	missense	probably damaging	0.99
R9309:Zfp423	UTSW	8	87783060	missense	probably damaging	0.99
R9312:Zfp423	UTSW	8	87781941	missense	probably damaging	1.00
R9453:Zfp423	UTSW	8	87781623	missense	probably damaging	1.00
R9469:Zfp423	UTSW	8	87782891	missense	probably damaging	0.99
R9480:Zfp423	UTSW	8	87904487	critical splice donor site	probably null
R9483:Zfp423	UTSW	8	87781097	missense	possibly damaging	0.90
R9510:Zfp423	UTSW	8	87783413	missense	possibly damaging	0.94
R9521:Zfp423	UTSW	8	87782405	missense	probably damaging	1.00
R9606:Zfp423	UTSW	8	87687967	missense	probably damaging	0.99
R9789:Zfp423	UTSW	8	87780249	missense	probably benign	0.03
Z1176:Zfp423	UTSW	8	87859420	missense	possibly damaging	0.49
Z1177:Zfp423	UTSW	8	87780925	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATAGGGGCAGCTGTAGAC -3'
(R):5'- ACTGCGAGGATACCTTTAGCC -3'

Sequencing Primer
(F):5'- AGCTGTAGACGACCTTGGG -3'
(R):5'- CGAGGATACCTTTAGCCAGACAG -3'

Posted On

2021-03-08