Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Zfp423'

438719

Institutional Source

Beutler Lab

Gene Symbol

Zfp423

Ensembl Gene

ENSMUSG00000045333

Gene Name

zinc finger protein 423

Synonyms

Zfp104, ataxia1, Ebfaz, Roaz

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87661810-87959595 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87859340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 61 (Q61L)

Ref Sequence

ENSEMBL: ENSMUSP00000052379 (fasta)

Gene Model

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

AlphaFold

Q80TS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052250
AA Change: Q61L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: Q61L

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

possibly damaging
Transcript: ENSMUST00000109655
AA Change: Q82L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: Q82L

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

noncoding transcript
Transcript: ENSMUST00000173092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173725

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174764
AA Change: Q85L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134575
Gene: ENSMUSG00000045333
AA Change: Q85L

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

Meta Mutation Damage Score

0.1316

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dennd5a	T	C	7: 109,905,721	R861G	possibly damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	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
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
R8676:Zfp423	UTSW	8	87782710	missense	probably benign	0.04
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'- ACCTAATTTCTGCCTGCCAGG -3'
(R):5'- TTAAAACCCCTTTCCTGAGACC -3'

Sequencing Primer
(F):5'- TGCCTGCCAGGAAGCTGTG -3'
(R):5'- TTTCCTGAGACCCCGTCGG -3'

Posted On

2016-10-26