Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Zfat'

402178

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

042783-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5208 (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 68180721 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 401 (I401N)

Ref Sequence

ENSEMBL: ENSMUSP00000125732 (fasta)

Gene Model

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

PDB Structure

Solution structure of the 5th C2H2 zinc finger of mouse Zinc finger protein 406 [SOLUTION NMR]
Solution structure of the 8th C2H2 zinc finger of mouse Zinc finger protein 406 [SOLUTION NMR]

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: I408N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: I408N

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: I401N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: I401N

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: I408N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: I408N

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: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Alcam	C	A	16: 52,295,048	E236*	probably null	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
Bbs12	T	C	3: 37,320,273	I290T	probably benign	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Bmp6	G	A	13: 38,469,697	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tars2	A	G	3: 95,747,593	W128R	probably damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem129	A	T	5: 33,655,506	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	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
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
R5642:Zfat	UTSW	15	68180916	missense	probably damaging	1.00
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
Z1088:Zfat	UTSW	15	68187101	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCATGCACCTCTCGGATATG -3'
(R):5'- ACATCGAGCGGGTACACAAG -3'

Sequencing Primer
(F):5'- CTGATGGAGCTGACGAACTTC -3'
(R):5'- GAAGATCAAACAGCATTGCCG -3'

Posted On

2016-07-22