Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03001:Atf4'

407362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atf4

Ensembl Gene

ENSMUSG00000042406

Gene Name

activating transcription factor 4

Synonyms

CREB2, C/ATF, Atf-4, TAXREB67

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

80255184-80257541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80256657 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 83 (W83R)

Ref Sequence

ENSEMBL: ENSMUSP00000155806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023048] [ENSMUST00000052499] [ENSMUST00000109605] [ENSMUST00000228788] [ENSMUST00000229138] [ENSMUST00000229828]

Predicted Effect

probably benign
Transcript: ENSMUST00000023048

SMART Domains

Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Mab-21	189	455	7.09e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052499

SMART Domains

Protein: ENSMUSP00000061167
Gene: ENSMUSG00000051518

Domain	Start	End	E-Value	Type
Pfam:AROS	23	141	6.4e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109605
AA Change: W83R

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

SMART Domains

Protein: ENSMUSP00000105234
Gene: ENSMUSG00000042406
AA Change: W83R

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	101	121	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
BRLZ	274	338	6.16e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228788

Predicted Effect

probably benign
Transcript: ENSMUST00000229138

Predicted Effect

probably damaging
Transcript: ENSMUST00000229828
AA Change: W83R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229962

Predicted Effect

probably benign
Transcript: ENSMUST00000230189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230434

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit postnatal lethality, abnormal lens development, and reduced male fertility. Mice homozygous for a different knock-out allele exhibit abnormal pancreatic and skeletal development, glucose homeostasis, and insulin homeostasis. [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
A830010M20Rik	T	C	5: 107,497,842	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,725,079	S95G	probably benign	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634		probably null	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	probably damaging	Het

Other mutations in Atf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Atf4	APN	15	80256527	unclassified	probably benign
R0589:Atf4	UTSW	15	80256439	missense	probably damaging	1.00
R1758:Atf4	UTSW	15	80257213	missense	probably benign
R3982:Atf4	UTSW	15	80256868	missense	probably benign	0.06
R4700:Atf4	UTSW	15	80257417	missense	probably damaging	1.00
R4701:Atf4	UTSW	15	80257417	missense	probably damaging	1.00
R4941:Atf4	UTSW	15	80256233	unclassified	probably benign
R5706:Atf4	UTSW	15	80256330	missense	possibly damaging	0.83
R6086:Atf4	UTSW	15	80257453	missense	probably benign	0.14
R7147:Atf4	UTSW	15	80257299	unclassified	probably benign
R7149:Atf4	UTSW	15	80257299	unclassified	probably benign
X0063:Atf4	UTSW	15	80256885	missense	probably damaging	0.98

Posted On

2016-08-02