Mutagenetix > Incidental Mutation

Incidental Mutation 'R3440:Zfat'

267359

Institutional Source

Beutler Lab

Gene Symbol

Zfat

Ensembl Gene

ENSMUSG00000022335

Gene Name

zinc finger and AT hook domain containing

Synonyms

LOC380993, Zfp406, Zfat1

MMRRC Submission

040658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67955613-68130705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67956402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1143 (D1143E)

Ref Sequence

ENSEMBL: ENSMUSP00000125732 (fasta)

Gene Model

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

AlphaFold

Q7TS63

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

probably benign
Transcript: ENSMUST00000160248
AA Change: D1161E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: D1161E

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 benign
Transcript: ENSMUST00000162054
AA Change: D1143E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: D1143E

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 benign
Transcript: ENSMUST00000162173
AA Change: D1076E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: D1076E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (29/30)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	C	A	2: 103,397,577 (GRCm39)	A169E	probably benign	Het
Adam3	T	C	8: 25,170,759 (GRCm39)		probably benign	Het
Agmo	C	T	12: 37,293,799 (GRCm39)	T74I	probably damaging	Het
Ano6	T	C	15: 95,865,602 (GRCm39)	V862A	probably damaging	Het
Bltp1	C	T	3: 37,096,061 (GRCm39)	Q4614*	probably null	Het
Cavin2	T	A	1: 51,340,565 (GRCm39)	V414E	probably damaging	Het
Clrn3	A	C	7: 135,115,854 (GRCm39)	Y165*	probably null	Het
Cp	A	T	3: 20,029,121 (GRCm39)	M533L	probably benign	Het
Dhrs3	T	A	4: 144,646,628 (GRCm39)	M226K	probably damaging	Het
Fignl2	A	G	15: 100,951,004 (GRCm39)	F426S	unknown	Het
Fpr1	C	T	17: 18,097,420 (GRCm39)	D190N	probably benign	Het
Grik3	C	A	4: 125,587,763 (GRCm39)	L628M	probably damaging	Het
Grik3	T	A	4: 125,587,764 (GRCm39)	L628Q	probably damaging	Het
Grin2c	T	A	11: 115,141,469 (GRCm39)	D883V	probably damaging	Het
Gtf3c6	T	A	10: 40,127,169 (GRCm39)	E123V	probably null	Het
H2-Eb1	A	G	17: 34,528,655 (GRCm39)	E62G	probably damaging	Het
Kif1a	C	T	1: 92,964,575 (GRCm39)	D1334N	possibly damaging	Het
Lef1	A	G	3: 130,978,407 (GRCm39)	D175G	probably damaging	Het
Myom1	A	G	17: 71,352,658 (GRCm39)		probably null	Het
Or6k2	A	T	1: 173,986,746 (GRCm39)	M136L	probably benign	Het
Pgr	A	T	9: 8,922,630 (GRCm39)	N600I	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Selp	T	C	1: 163,951,344 (GRCm39)	F26S	probably benign	Het
Tchh	A	T	3: 93,352,414 (GRCm39)	D618V	unknown	Het
Tenm4	A	T	7: 96,202,723 (GRCm39)	M88L	probably benign	Het

Other mutations in Zfat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Zfat	APN	15	68,042,071 (GRCm39)	missense	possibly damaging	0.92
IGL00862:Zfat	APN	15	68,130,512 (GRCm39)	splice site	probably null
IGL01021:Zfat	APN	15	68,042,015 (GRCm39)	missense	possibly damaging	0.50
IGL01152:Zfat	APN	15	67,982,353 (GRCm39)	missense	probably damaging	1.00
IGL01733:Zfat	APN	15	68,052,579 (GRCm39)	missense	probably damaging	1.00
IGL01873:Zfat	APN	15	68,096,744 (GRCm39)	missense	probably benign	0.00
IGL01990:Zfat	APN	15	68,096,666 (GRCm39)	missense	probably damaging	1.00
IGL02066:Zfat	APN	15	68,052,678 (GRCm39)	missense	probably damaging	1.00
IGL02664:Zfat	APN	15	68,052,570 (GRCm39)	missense	probably damaging	1.00
IGL02955:Zfat	APN	15	68,052,963 (GRCm39)	missense	probably damaging	0.98
IGL03201:Zfat	APN	15	68,037,758 (GRCm39)	missense	probably damaging	1.00
R0145:Zfat	UTSW	15	68,058,948 (GRCm39)	missense	possibly damaging	0.95
R0408:Zfat	UTSW	15	68,052,141 (GRCm39)	missense	probably benign	0.10
R0633:Zfat	UTSW	15	68,052,652 (GRCm39)	missense	probably damaging	1.00
R1147:Zfat	UTSW	15	68,084,432 (GRCm39)	splice site	probably benign
R1508:Zfat	UTSW	15	68,050,600 (GRCm39)	missense	probably damaging	1.00
R1513:Zfat	UTSW	15	68,084,529 (GRCm39)	missense	probably damaging	1.00
R1641:Zfat	UTSW	15	68,051,959 (GRCm39)	missense	probably benign	0.19
R1889:Zfat	UTSW	15	67,973,388 (GRCm39)	missense	probably benign	0.00
R1959:Zfat	UTSW	15	68,018,392 (GRCm39)	missense	probably benign	0.32
R2030:Zfat	UTSW	15	67,990,783 (GRCm39)	critical splice donor site	probably null
R2202:Zfat	UTSW	15	68,051,709 (GRCm39)	missense	probably benign	0.36
R2340:Zfat	UTSW	15	67,973,390 (GRCm39)	missense	probably damaging	0.99
R3442:Zfat	UTSW	15	67,973,430 (GRCm39)	missense	probably damaging	0.99
R3442:Zfat	UTSW	15	67,956,402 (GRCm39)	missense	probably benign	0.00
R4406:Zfat	UTSW	15	68,052,040 (GRCm39)	missense	probably benign	0.00
R4649:Zfat	UTSW	15	68,056,325 (GRCm39)	missense	probably damaging	1.00
R4710:Zfat	UTSW	15	68,052,131 (GRCm39)	missense	probably benign
R4712:Zfat	UTSW	15	67,982,324 (GRCm39)	critical splice donor site	probably null
R4745:Zfat	UTSW	15	68,052,223 (GRCm39)	missense	probably benign	0.09
R4862:Zfat	UTSW	15	68,051,959 (GRCm39)	missense	probably benign	0.02
R5015:Zfat	UTSW	15	68,050,762 (GRCm39)	missense	probably damaging	1.00
R5075:Zfat	UTSW	15	68,052,079 (GRCm39)	missense	probably benign
R5208:Zfat	UTSW	15	68,052,570 (GRCm39)	missense	probably damaging	1.00
R5277:Zfat	UTSW	15	68,037,758 (GRCm39)	missense	probably damaging	1.00
R5303:Zfat	UTSW	15	67,982,335 (GRCm39)	missense	probably damaging	1.00
R5328:Zfat	UTSW	15	68,051,677 (GRCm39)	missense	probably damaging	0.99
R5642:Zfat	UTSW	15	68,052,765 (GRCm39)	missense	probably damaging	1.00
R5659:Zfat	UTSW	15	67,990,862 (GRCm39)	missense	probably damaging	1.00
R5947:Zfat	UTSW	15	68,051,806 (GRCm39)	missense	probably benign
R6046:Zfat	UTSW	15	68,052,626 (GRCm39)	missense	probably damaging	0.99
R6315:Zfat	UTSW	15	67,956,311 (GRCm39)	missense	probably damaging	1.00
R6342:Zfat	UTSW	15	68,052,831 (GRCm39)	missense	probably damaging	1.00
R6573:Zfat	UTSW	15	68,037,703 (GRCm39)	missense	probably damaging	1.00
R6789:Zfat	UTSW	15	67,956,235 (GRCm39)	missense	probably damaging	1.00
R7028:Zfat	UTSW	15	68,052,301 (GRCm39)	missense	probably damaging	1.00
R7033:Zfat	UTSW	15	68,052,864 (GRCm39)	missense	probably damaging	1.00
R7039:Zfat	UTSW	15	68,052,211 (GRCm39)	missense	probably benign
R7065:Zfat	UTSW	15	68,052,969 (GRCm39)	missense	probably damaging	1.00
R7144:Zfat	UTSW	15	68,050,631 (GRCm39)	missense	probably benign	0.12
R7208:Zfat	UTSW	15	68,051,856 (GRCm39)	missense	probably benign	0.39
R7330:Zfat	UTSW	15	68,084,600 (GRCm39)	missense	probably benign	0.00
R7345:Zfat	UTSW	15	67,976,892 (GRCm39)	missense	probably damaging	1.00
R7378:Zfat	UTSW	15	68,052,969 (GRCm39)	missense	probably damaging	1.00
R7405:Zfat	UTSW	15	68,056,334 (GRCm39)	missense	probably damaging	1.00
R7481:Zfat	UTSW	15	68,050,715 (GRCm39)	nonsense	probably null
R7672:Zfat	UTSW	15	68,130,535 (GRCm39)	start codon destroyed	probably null	0.39
R7676:Zfat	UTSW	15	68,096,693 (GRCm39)	missense	possibly damaging	0.88
R7701:Zfat	UTSW	15	68,052,757 (GRCm39)	nonsense	probably null
R7825:Zfat	UTSW	15	68,051,769 (GRCm39)	missense	probably benign	0.01
R8152:Zfat	UTSW	15	67,973,355 (GRCm39)	missense	probably benign	0.23
R8404:Zfat	UTSW	15	67,976,916 (GRCm39)	missense	probably benign	0.00
R8405:Zfat	UTSW	15	68,018,410 (GRCm39)	missense	probably damaging	1.00
R8502:Zfat	UTSW	15	67,976,916 (GRCm39)	missense	probably benign	0.00
R8534:Zfat	UTSW	15	68,037,696 (GRCm39)	missense	probably damaging	1.00
R8708:Zfat	UTSW	15	67,956,278 (GRCm39)	missense	possibly damaging	0.95
R8887:Zfat	UTSW	15	68,056,315 (GRCm39)	missense	probably damaging	1.00
R8896:Zfat	UTSW	15	68,052,519 (GRCm39)	missense	probably damaging	1.00
R8906:Zfat	UTSW	15	67,956,404 (GRCm39)	missense	possibly damaging	0.81
R9117:Zfat	UTSW	15	68,058,918 (GRCm39)	missense	probably damaging	0.98
R9137:Zfat	UTSW	15	68,051,794 (GRCm39)	missense	probably benign	0.00
R9310:Zfat	UTSW	15	67,956,250 (GRCm39)	missense	probably damaging	1.00
R9482:Zfat	UTSW	15	68,084,652 (GRCm39)	missense	probably damaging	1.00
R9610:Zfat	UTSW	15	68,051,655 (GRCm39)	missense	possibly damaging	0.58
R9611:Zfat	UTSW	15	68,051,655 (GRCm39)	missense	possibly damaging	0.58
R9630:Zfat	UTSW	15	67,990,793 (GRCm39)	missense	probably benign	0.37
Z1088:Zfat	UTSW	15	68,058,950 (GRCm39)	missense	probably benign	0.00
Z1177:Zfat	UTSW	15	68,051,677 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACGTATACGATGAACTCTGAG -3'
(R):5'- ACCCCATGGTACCTTTGTGAC -3'

Sequencing Primer
(F):5'- GTATACGATGAACTCTGAGGCCTC -3'
(R):5'- ACATGGGAAAGACCTGACCTTGTC -3'

Posted On

2015-02-18