Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Aatf'

355790

Institutional Source

Beutler Lab

Gene Symbol

Aatf

Ensembl Gene

ENSMUSG00000018697

Gene Name

apoptosis antagonizing transcription factor

Synonyms

5830465M17Rik, Trb, 4933415H02Rik, Che-1

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84313681-84404348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84339964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 449 (D449V)

Ref Sequence

ENSEMBL: ENSMUSP00000018841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018841]

AlphaFold

Q9JKX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000018841
AA Change: D449V

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

SMART Domains

Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: D449V

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	91	119	N/A	INTRINSIC
low complexity region	130	173	N/A	INTRINSIC
Pfam:AATF-Che1	187	339	4.6e-40	PFAM
low complexity region	418	429	N/A	INTRINSIC
Pfam:TRAUB	430	514	3.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141093

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous embryos do not develop past the compacted morula stage, and after failing to maintain compaction. Mutant embryos show abnormal morphology at E3.5, with most not forming a blastocoel cavity. Severely reduced cell proliferation is observed before blastocyst formation. [provided by MGI curators]

Allele List at MGI

All alleles(20) : Targeted(2) Gene trapped(18)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	Het

Other mutations in Aatf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Aatf	APN	11	84,361,383 (GRCm39)	splice site	probably benign
IGL01482:Aatf	APN	11	84,361,536 (GRCm39)	missense	possibly damaging	0.51
IGL01775:Aatf	APN	11	84,361,963 (GRCm39)	missense	probably damaging	1.00
IGL02881:Aatf	APN	11	84,362,115 (GRCm39)	splice site	probably benign
R0183:Aatf	UTSW	11	84,401,251 (GRCm39)	splice site	probably null
R0200:Aatf	UTSW	11	84,336,502 (GRCm39)	missense	probably damaging	1.00
R0257:Aatf	UTSW	11	84,401,107 (GRCm39)	missense	probably benign	0.33
R0324:Aatf	UTSW	11	84,402,965 (GRCm39)	critical splice donor site	probably null
R0494:Aatf	UTSW	11	84,402,339 (GRCm39)	missense	probably benign
R0544:Aatf	UTSW	11	84,313,831 (GRCm39)	missense	probably benign	0.09
R1186:Aatf	UTSW	11	84,361,375 (GRCm39)	splice site	probably benign
R2339:Aatf	UTSW	11	84,402,323 (GRCm39)	missense	probably benign	0.00
R4626:Aatf	UTSW	11	84,313,784 (GRCm39)	makesense	probably null
R4647:Aatf	UTSW	11	84,362,023 (GRCm39)	missense	possibly damaging	0.69
R4981:Aatf	UTSW	11	84,402,323 (GRCm39)	missense	probably benign	0.00
R5490:Aatf	UTSW	11	84,401,099 (GRCm39)	missense	probably damaging	1.00
R5938:Aatf	UTSW	11	84,333,400 (GRCm39)	missense	possibly damaging	0.88
R6267:Aatf	UTSW	11	84,363,926 (GRCm39)	missense	probably benign	0.09
R6296:Aatf	UTSW	11	84,363,926 (GRCm39)	missense	probably benign	0.09
R6633:Aatf	UTSW	11	84,402,308 (GRCm39)	critical splice donor site	probably null
R7081:Aatf	UTSW	11	84,361,951 (GRCm39)	missense	possibly damaging	0.84
R7212:Aatf	UTSW	11	84,340,006 (GRCm39)	missense	probably damaging	0.98
R7545:Aatf	UTSW	11	84,361,502 (GRCm39)	missense	probably benign	0.04
R7754:Aatf	UTSW	11	84,402,335 (GRCm39)	missense	possibly damaging	0.53
R7871:Aatf	UTSW	11	84,361,864 (GRCm39)	frame shift	probably null
R8411:Aatf	UTSW	11	84,361,502 (GRCm39)	missense	probably benign	0.04
R8746:Aatf	UTSW	11	84,402,338 (GRCm39)	missense	probably benign	0.06
R9406:Aatf	UTSW	11	84,361,866 (GRCm39)	frame shift	probably null
X0018:Aatf	UTSW	11	84,401,211 (GRCm39)	missense	possibly damaging	0.85
Z1176:Aatf	UTSW	11	84,333,411 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGTTACACACTGGTCAGCAG -3'
(R):5'- GTTAGCTACCTTTGAAAACGCCG -3'

Sequencing Primer
(F):5'- GTTACACACTGGTCAGCAGATTGC -3'
(R):5'- TTTGAAAACGCCGTAAATACAACAGG -3'

Posted On

2015-10-21