Mutagenetix > Incidental Mutation

Incidental Mutation 'R6789:Zfat'

532948

Institutional Source

Beutler Lab

Gene Symbol

Zfat

Ensembl Gene

ENSMUSG00000022335

Gene Name

zinc finger and AT hook domain containing

Synonyms

LOC380993, Zfp406, Zfat1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67955613-68130705 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67956235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1199 (Y1199C)

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 damaging
Transcript: ENSMUST00000160248
AA Change: Y1217C

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

SMART Domains

Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: Y1217C

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: Y1199C

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

SMART Domains

Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: Y1199C

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: Y1132C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: Y1132C

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,343,644 (GRCm39)	D442E	probably benign	Het
Arl6ip4	G	A	5: 124,254,665 (GRCm39)	G53R	probably damaging	Het
Asns	T	C	6: 7,675,344 (GRCm39)	T553A	probably benign	Het
Atp1a1	T	A	3: 101,493,614 (GRCm39)	N497Y	possibly damaging	Het
Birc2	T	C	9: 7,836,966 (GRCm39)		probably benign	Het
Catsperd	C	A	17: 56,961,426 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,406,210 (GRCm39)	Q2341K	possibly damaging	Het
Dydc2	C	A	14: 40,771,296 (GRCm39)	V128L	probably benign	Het
Dync2i2	A	G	2: 29,923,284 (GRCm39)		probably null	Het
Efna3	C	T	3: 89,223,769 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,143,686 (GRCm39)	E2790K	probably benign	Het
Fhip1a	A	T	3: 85,579,865 (GRCm39)	L780*	probably null	Het
Gm11569	C	A	11: 99,689,657 (GRCm39)		probably benign	Het
Gprc6a	C	T	10: 51,507,412 (GRCm39)	G39D	probably damaging	Het
Igkv6-17	A	G	6: 70,348,692 (GRCm39)	D21G	probably benign	Het
Klra4	T	C	6: 130,039,182 (GRCm39)	Q70R	probably damaging	Het
Krtap31-2	C	T	11: 99,827,549 (GRCm39)	S127F	possibly damaging	Het
Lingo4	G	T	3: 94,306,662 (GRCm39)		probably benign	Het
Lrp2bp	A	G	8: 46,466,151 (GRCm39)	K87E	possibly damaging	Het
Macf1	A	T	4: 123,266,231 (GRCm39)	M5333K	probably damaging	Het
Mmp13	A	T	9: 7,272,781 (GRCm39)	Y47F	probably benign	Het
Muc16	G	A	9: 18,471,282 (GRCm39)	P7261S	probably benign	Het
Nostrin	G	T	2: 69,005,856 (GRCm39)	M212I	probably benign	Het
Nr1h5	G	A	3: 102,865,677 (GRCm39)	T8M	possibly damaging	Het
Nup153	A	T	13: 46,870,792 (GRCm39)	L41H	probably damaging	Het
Or10b1	T	C	10: 78,355,802 (GRCm39)	L120P	noncoding transcript	Het
Or5b97	T	A	19: 12,878,653 (GRCm39)	I164L	probably benign	Het
Pappa	A	T	4: 65,099,278 (GRCm39)	D599V	probably damaging	Het
Pcdh18	G	A	3: 49,710,364 (GRCm39)	T317I	probably benign	Het
Pcsk5	T	A	19: 17,434,150 (GRCm39)	N1406I	possibly damaging	Het
Pik3c2a	A	T	7: 115,961,419 (GRCm39)	Y1027N	probably damaging	Het
Prpf6	T	A	2: 181,257,844 (GRCm39)	Y105*	probably null	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rnf8	T	A	17: 29,854,843 (GRCm39)	W433R	probably damaging	Het
Slc18b1	T	A	10: 23,692,227 (GRCm39)	V232D	probably benign	Het
Taf11	C	A	17: 28,126,492 (GRCm39)	A52S	probably benign	Het
Thoc2l	T	C	5: 104,665,555 (GRCm39)	F26L	probably benign	Het
Trav9-2	T	C	14: 53,828,819 (GRCm39)	L63P	possibly damaging	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
R3440:Zfat	UTSW	15	67,956,402 (GRCm39)	missense	probably benign	0.00
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
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'- AGAGAACTCTATCTGGGCCAG -3'
(R):5'- CCCAATGCCCATTTGTAATGTTG -3'

Sequencing Primer
(F):5'- GAACTCTATCTGGGCCAGTAGAC -3'
(R):5'- TCCTAGGTCACCGATGAGGAG -3'

Posted On

2018-08-29