Mutagenetix > Incidental Mutations

Incidental Mutation 'R5642:Zfat'

440783

Institutional Source

Beutler Lab

Gene Symbol

Zfat

Ensembl Gene

ENSMUSG00000022335

Gene Name

zinc finger and AT hook domain containing

Synonyms

LOC380993, Zfat1, Zfp406

MMRRC Submission

043290-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68083764-68258856 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68180916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 343 (V343E)

Ref Sequence

ENSEMBL: ENSMUSP00000124974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159430] [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]

AlphaFold

Q7TS63

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159430

SMART Domains

Protein: ENSMUSP00000124420
Gene: ENSMUSG00000022335

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	2.45e0	SMART
ZnF_C2H2	116	136	1.53e2	SMART
low complexity region	158	174	N/A	INTRINSIC
ZnF_C2H2	209	231	1.47e-3	SMART
ZnF_C2H2	237	259	1.18e-2	SMART
ZnF_C2H2	264	287	2.36e-2	SMART
ZnF_C2H2	292	315	4.4e-2	SMART
ZnF_C2H2	342	364	1.67e-2	SMART
ZnF_C2H2	370	392	1.33e-1	SMART
ZnF_C2H2	396	419	2.05e-2	SMART
low complexity region	539	555	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160248
AA Change: V343E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: V343E

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	2.45e0	SMART
ZnF_C2H2	116	136	1.53e2	SMART
low complexity region	220	236	N/A	INTRINSIC
ZnF_C2H2	271	293	1.47e-3	SMART
ZnF_C2H2	299	321	1.18e-2	SMART
ZnF_C2H2	326	349	2.36e-2	SMART
ZnF_C2H2	354	377	4.4e-2	SMART
ZnF_C2H2	404	426	1.67e-2	SMART
ZnF_C2H2	432	454	1.33e-1	SMART
ZnF_C2H2	458	481	2.05e-2	SMART
low complexity region	601	617	N/A	INTRINSIC
ZnF_C2H2	737	759	1.43e-1	SMART
ZnF_C2H2	765	788	3.52e-1	SMART
ZnF_C2H2	793	817	5.59e-4	SMART
ZnF_C2H2	825	848	3.83e-2	SMART
ZnF_C2H2	875	898	3.95e1	SMART
ZnF_C2H2	904	926	6.88e-4	SMART
ZnF_C2H2	932	954	8.94e-3	SMART
ZnF_C2H2	961	983	2.27e-4	SMART
ZnF_C2H2	989	1012	9.3e-1	SMART
ZnF_C2H2	1036	1059	5.21e-4	SMART
low complexity region	1073	1082	N/A	INTRINSIC
low complexity region	1139	1149	N/A	INTRINSIC
low complexity region	1218	1236	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162054
AA Change: V336E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: V336E

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	2.45e0	SMART
ZnF_C2H2	116	136	1.53e2	SMART
low complexity region	213	229	N/A	INTRINSIC
ZnF_C2H2	264	286	1.47e-3	SMART
ZnF_C2H2	292	314	1.18e-2	SMART
ZnF_C2H2	319	342	2.36e-2	SMART
ZnF_C2H2	347	370	4.4e-2	SMART
ZnF_C2H2	397	419	1.67e-2	SMART
ZnF_C2H2	425	447	1.33e-1	SMART
ZnF_C2H2	451	474	2.05e-2	SMART
low complexity region	594	610	N/A	INTRINSIC
ZnF_C2H2	730	752	1.43e-1	SMART
ZnF_C2H2	758	781	3.52e-1	SMART
ZnF_C2H2	786	810	5.59e-4	SMART
ZnF_C2H2	818	841	3.83e-2	SMART
ZnF_C2H2	868	891	3.95e1	SMART
ZnF_C2H2	897	919	6.88e-4	SMART
ZnF_C2H2	925	947	8.94e-3	SMART
ZnF_C2H2	954	976	2.27e-4	SMART
ZnF_C2H2	982	1005	9.3e-1	SMART
ZnF_C2H2	1029	1052	5.21e-4	SMART
low complexity region	1121	1131	N/A	INTRINSIC
low complexity region	1200	1218	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162173
AA Change: V343E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: V343E

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	2.45e0	SMART
ZnF_C2H2	116	136	1.53e2	SMART
low complexity region	220	236	N/A	INTRINSIC
ZnF_C2H2	271	293	1.47e-3	SMART
ZnF_C2H2	299	321	1.18e-2	SMART
ZnF_C2H2	326	349	2.36e-2	SMART
ZnF_C2H2	354	377	4.4e-2	SMART
ZnF_C2H2	404	426	1.67e-2	SMART
ZnF_C2H2	432	454	1.33e-1	SMART
ZnF_C2H2	458	481	2.05e-2	SMART
low complexity region	601	617	N/A	INTRINSIC
ZnF_C2H2	737	759	1.43e-1	SMART
ZnF_C2H2	765	788	3.52e-1	SMART
ZnF_C2H2	793	817	5.59e-4	SMART
ZnF_C2H2	825	848	3.83e-2	SMART
ZnF_C2H2	875	898	3.95e1	SMART
ZnF_C2H2	904	926	6.88e-4	SMART
ZnF_C2H2	932	954	8.94e-3	SMART
ZnF_C2H2	961	983	2.27e-4	SMART
ZnF_C2H2	989	1012	9.3e-1	SMART
ZnF_C2H2	1036	1059	5.21e-4	SMART
low complexity region	1133	1151	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712		probably benign	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	probably benign	Het

Other mutations in Zfat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Zfat	APN	15	68170222	missense	possibly damaging	0.92
IGL00862:Zfat	APN	15	68258663	splice site	probably null
IGL01021:Zfat	APN	15	68170166	missense	possibly damaging	0.50
IGL01152:Zfat	APN	15	68110504	missense	probably damaging	1.00
IGL01733:Zfat	APN	15	68180730	missense	probably damaging	1.00
IGL01873:Zfat	APN	15	68224895	missense	probably benign	0.00
IGL01990:Zfat	APN	15	68224817	missense	probably damaging	1.00
IGL02066:Zfat	APN	15	68180829	missense	probably damaging	1.00
IGL02664:Zfat	APN	15	68180721	missense	probably damaging	1.00
IGL02955:Zfat	APN	15	68181114	missense	probably damaging	0.98
IGL03201:Zfat	APN	15	68165909	missense	probably damaging	1.00
R0145:Zfat	UTSW	15	68187099	missense	possibly damaging	0.95
R0408:Zfat	UTSW	15	68180292	missense	probably benign	0.10
R0633:Zfat	UTSW	15	68180803	missense	probably damaging	1.00
R1147:Zfat	UTSW	15	68212583	splice site	probably benign
R1508:Zfat	UTSW	15	68178751	missense	probably damaging	1.00
R1513:Zfat	UTSW	15	68212680	missense	probably damaging	1.00
R1641:Zfat	UTSW	15	68180110	missense	probably benign	0.19
R1889:Zfat	UTSW	15	68101539	missense	probably benign	0.00
R1959:Zfat	UTSW	15	68146543	missense	probably benign	0.32
R2030:Zfat	UTSW	15	68118934	critical splice donor site	probably null
R2202:Zfat	UTSW	15	68179860	missense	probably benign	0.36
R2340:Zfat	UTSW	15	68101541	missense	probably damaging	0.99
R3440:Zfat	UTSW	15	68084553	missense	probably benign	0.00
R3442:Zfat	UTSW	15	68084553	missense	probably benign	0.00
R3442:Zfat	UTSW	15	68101581	missense	probably damaging	0.99
R4406:Zfat	UTSW	15	68180191	missense	probably benign	0.00
R4649:Zfat	UTSW	15	68184476	missense	probably damaging	1.00
R4710:Zfat	UTSW	15	68180282	missense	probably benign
R4712:Zfat	UTSW	15	68110475	critical splice donor site	probably null
R4745:Zfat	UTSW	15	68180374	missense	probably benign	0.09
R4862:Zfat	UTSW	15	68180110	missense	probably benign	0.02
R5015:Zfat	UTSW	15	68178913	missense	probably damaging	1.00
R5075:Zfat	UTSW	15	68180230	missense	probably benign
R5208:Zfat	UTSW	15	68180721	missense	probably damaging	1.00
R5277:Zfat	UTSW	15	68165909	missense	probably damaging	1.00
R5303:Zfat	UTSW	15	68110486	missense	probably damaging	1.00
R5328:Zfat	UTSW	15	68179828	missense	probably damaging	0.99
R5659:Zfat	UTSW	15	68119013	missense	probably damaging	1.00
R5947:Zfat	UTSW	15	68179957	missense	probably benign
R6046:Zfat	UTSW	15	68180777	missense	probably damaging	0.99
R6315:Zfat	UTSW	15	68084462	missense	probably damaging	1.00
R6342:Zfat	UTSW	15	68180982	missense	probably damaging	1.00
R6573:Zfat	UTSW	15	68165854	missense	probably damaging	1.00
R6789:Zfat	UTSW	15	68084386	missense	probably damaging	1.00
R7028:Zfat	UTSW	15	68180452	missense	probably damaging	1.00
R7033:Zfat	UTSW	15	68181015	missense	probably damaging	1.00
R7039:Zfat	UTSW	15	68180362	missense	probably benign
R7065:Zfat	UTSW	15	68181120	missense	probably damaging	1.00
R7144:Zfat	UTSW	15	68178782	missense	probably benign	0.12
R7208:Zfat	UTSW	15	68180007	missense	probably benign	0.39
R7330:Zfat	UTSW	15	68212751	missense	probably benign	0.00
R7345:Zfat	UTSW	15	68105043	missense	probably damaging	1.00
R7378:Zfat	UTSW	15	68181120	missense	probably damaging	1.00
R7405:Zfat	UTSW	15	68184485	missense	probably damaging	1.00
R7481:Zfat	UTSW	15	68178866	nonsense	probably null
R7672:Zfat	UTSW	15	68258686	start codon destroyed	probably null	0.39
R7676:Zfat	UTSW	15	68224844	missense	possibly damaging	0.88
R7701:Zfat	UTSW	15	68180908	nonsense	probably null
R7825:Zfat	UTSW	15	68179920	missense	probably benign	0.01
R8152:Zfat	UTSW	15	68101506	missense	probably benign	0.23
R8404:Zfat	UTSW	15	68105067	missense	probably benign	0.00
R8405:Zfat	UTSW	15	68146561	missense	probably damaging	1.00
R8502:Zfat	UTSW	15	68105067	missense	probably benign	0.00
R8534:Zfat	UTSW	15	68165847	missense	probably damaging	1.00
R8708:Zfat	UTSW	15	68084429	missense	possibly damaging	0.95
R8887:Zfat	UTSW	15	68184466	missense	probably damaging	1.00
R8896:Zfat	UTSW	15	68180670	missense	probably damaging	1.00
R8906:Zfat	UTSW	15	68084555	missense	possibly damaging	0.81
R9117:Zfat	UTSW	15	68187069	missense	probably damaging	0.98
R9137:Zfat	UTSW	15	68179945	missense	probably benign	0.00
R9310:Zfat	UTSW	15	68084401	missense	probably damaging	1.00
Z1088:Zfat	UTSW	15	68187101	missense	probably benign	0.00
Z1177:Zfat	UTSW	15	68179828	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGTGGCAGTCGTAGAGCAG -3'
(R):5'- TGTGAGTACTGCAACAAGGTG -3'

Sequencing Primer
(F):5'- TAGAGCAGCTGCCGCTTG -3'
(R):5'- GGTGTTCAAGTTCAAGCACTC -3'

Posted On

2016-11-08