Mutagenetix > Incidental Mutation

Incidental Mutation 'R7212:Aatf'

561163

Institutional Source

Beutler Lab

Gene Symbol

Aatf

Ensembl Gene

ENSMUSG00000018697

Gene Name

apoptosis antagonizing transcription factor

Synonyms

5830465M17Rik, Trb, 4933415H02Rik, Che-1

MMRRC Submission

045340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84313681-84404348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84340006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 435 (R435Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018841 (fasta)

Gene Model

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

AlphaFold

Q9JKX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000018841
AA Change: R435Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: R435Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	C	T	6: 83,138,654 (GRCm39)	A193V	probably benign	Het
Abca13	A	G	11: 9,248,854 (GRCm39)	H2867R	probably benign	Het
Abcd2	C	T	15: 91,043,326 (GRCm39)	A621T	possibly damaging	Het
Actl11	T	A	9: 107,805,856 (GRCm39)	S60T	probably damaging	Het
Adam28	T	A	14: 68,874,846 (GRCm39)	N277I	probably damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Arhgap27	C	T	11: 103,251,581 (GRCm39)	R49Q	probably damaging	Het
Armc10	T	C	5: 21,865,581 (GRCm39)	S209P	probably damaging	Het
Atp6v0a1	T	C	11: 100,934,783 (GRCm39)	F617L	probably benign	Het
Bap1	T	A	14: 30,973,580 (GRCm39)	N2K	probably damaging	Het
Bltp1	C	A	3: 37,102,158 (GRCm39)	N1363K		Het
Cass4	T	A	2: 172,269,106 (GRCm39)	L396*	probably null	Het
Ccdc40	A	G	11: 119,155,270 (GRCm39)	Q1170R	probably damaging	Het
Cdhr5	C	T	7: 140,852,572 (GRCm39)	R348H	probably damaging	Het
Cenpj	A	G	14: 56,790,109 (GRCm39)	S647P	probably benign	Het
Chordc1	T	A	9: 18,206,647 (GRCm39)		probably null	Het
Chordc1	T	C	9: 18,212,308 (GRCm39)	S41P	probably damaging	Het
Ckm	T	C	7: 19,148,978 (GRCm39)		probably null	Het
Clca3a1	A	C	3: 144,711,727 (GRCm39)	I756S	probably damaging	Het
Clcn1	T	C	6: 42,268,323 (GRCm39)	V165A	possibly damaging	Het
Clec4a4	T	A	6: 122,968,704 (GRCm39)		probably null	Het
Cog7	T	C	7: 121,576,537 (GRCm39)	K130E	probably damaging	Het
Coq7	A	G	7: 118,109,271 (GRCm39)	I259T	unknown	Het
Cp	T	C	3: 20,029,130 (GRCm39)	S536P	probably damaging	Het
Cyp2d10	T	A	15: 82,288,447 (GRCm39)		probably null	Het
Dcst2	A	G	3: 89,273,607 (GRCm39)	I162V	probably benign	Het
Dennd4c	A	G	4: 86,721,228 (GRCm39)	E630G	probably damaging	Het
Dpt	A	T	1: 164,624,484 (GRCm39)	I62F	probably benign	Het
Ednrb	T	A	14: 104,080,444 (GRCm39)	I157F	probably damaging	Het
Ext1	A	T	15: 53,208,558 (GRCm39)	W68R	probably benign	Het
Fgf4	A	G	7: 144,416,523 (GRCm39)	K152E	probably benign	Het
G530012D18Rik	A	T	1: 85,504,864 (GRCm39)	T90S	unknown	Het
Galnt17	T	C	5: 130,992,949 (GRCm39)	T322A	possibly damaging	Het
Gcm1	A	T	9: 77,966,925 (GRCm39)	D48V	possibly damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm49358	G	T	10: 86,661,071 (GRCm39)	R353L	probably damaging	Het
Golga4	A	G	9: 118,365,908 (GRCm39)	E320G	possibly damaging	Het
Herc3	T	C	6: 58,895,758 (GRCm39)	I1002T	probably damaging	Het
Hip1r	T	A	5: 124,111,845 (GRCm39)	V7E	possibly damaging	Het
Hipk1	G	A	3: 103,684,926 (GRCm39)	Q230*	probably null	Het
Igsf9b	C	T	9: 27,242,992 (GRCm39)	P726L	probably damaging	Het
Itgb6	T	C	2: 60,464,998 (GRCm39)	I345V	probably damaging	Het
Lhx4	G	T	1: 155,600,699 (GRCm39)	Q29K	probably benign	Het
Manba	A	G	3: 135,273,396 (GRCm39)	T777A	probably benign	Het
Mcm3ap	A	G	10: 76,337,145 (GRCm39)	D1360G	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mmp14	T	G	14: 54,673,336 (GRCm39)	D81E	probably damaging	Het
Naalad2	T	C	9: 18,275,337 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or7a38	A	T	10: 78,753,339 (GRCm39)	I222L	possibly damaging	Het
Or8b35	T	A	9: 37,904,253 (GRCm39)	M150K	possibly damaging	Het
Pacs2	A	G	12: 113,025,312 (GRCm39)	D488G	possibly damaging	Het
Prr5	T	G	15: 84,629,993 (GRCm39)	L108R	probably null	Het
Psg23	A	G	7: 18,341,064 (GRCm39)	S397P	probably benign	Het
Rfpl4	C	A	7: 5,113,659 (GRCm39)	R174L	probably damaging	Het
Runx3	T	A	4: 134,880,090 (GRCm39)	I3N	probably damaging	Het
Scn5a	A	T	9: 119,372,451 (GRCm39)	N214K	possibly damaging	Het
Slc27a1	T	C	8: 72,037,092 (GRCm39)	I412T	probably damaging	Het
Sptbn4	T	G	7: 27,116,210 (GRCm39)	T530P	probably benign	Het
Tex15	A	T	8: 34,060,854 (GRCm39)	R95*	probably null	Het
Tex15	T	C	8: 34,063,023 (GRCm39)	S818P	probably damaging	Het
Tmod1	A	T	4: 46,093,951 (GRCm39)	K221*	probably null	Het
Tpm3	G	A	3: 89,998,361 (GRCm39)	D272N	probably benign	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Ugt2b5	A	T	5: 87,273,131 (GRCm39)	C512S	probably benign	Het
Vmn2r82	A	T	10: 79,215,268 (GRCm39)	E417V	probably benign	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Zfp217	A	T	2: 169,956,072 (GRCm39)	S975R	probably benign	Het
Zfr	C	T	15: 12,146,309 (GRCm39)	Q287*	probably null	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
R4697:Aatf	UTSW	11	84,339,964 (GRCm39)	missense	probably damaging	1.00
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
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'- CACACTGGTCAGCAGATTGC -3'
(R):5'- TGGATGTCAGCACAGCTATTATAG -3'

Sequencing Primer
(F):5'- CCACACTAAGGGTAAAGATCCTAAG -3'
(R):5'- GTTAGCTACCTTTGAAAACGCCG -3'

Posted On

2019-06-26