Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01534:Atf5'

89890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atf5

Ensembl Gene

ENSMUSG00000038539

Gene Name

activating transcription factor 5

Synonyms

Atf7, ODA-10, Atfx, AFTA

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

IGL01534

Quality Score

Status

Chromosome

Chromosomal Location

44461680-44466082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44462462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 221 (S221P)

Ref Sequence

ENSEMBL: ENSMUSP00000103525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047356] [ENSMUST00000057195] [ENSMUST00000107893] [ENSMUST00000118125] [ENSMUST00000207103] [ENSMUST00000208172] [ENSMUST00000208626] [ENSMUST00000209072]

AlphaFold

O70191

Predicted Effect

probably damaging
Transcript: ENSMUST00000047356
AA Change: S221P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: S221P

Domain	Start	End	E-Value	Type
low complexity region	30	37	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	75	98	N/A	INTRINSIC
SCOP:d1dnpa2	116	158	9e-3	SMART
low complexity region	177	206	N/A	INTRINSIC
BRLZ	207	271	4.93e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057195

SMART Domains

Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511

Domain	Start	End	E-Value	Type
low complexity region	3	81	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	143	166	N/A	INTRINSIC
low complexity region	199	251	N/A	INTRINSIC
low complexity region	262	296	N/A	INTRINSIC
Pfam:Nsp1_C	317	433	2.3e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107893
AA Change: S221P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: S221P

Domain	Start	End	E-Value	Type
low complexity region	30	37	N/A	INTRINSIC
low complexity region	43	60	N/A	INTRINSIC
low complexity region	75	98	N/A	INTRINSIC
SCOP:d1dnpa2	116	158	9e-3	SMART
low complexity region	177	206	N/A	INTRINSIC
BRLZ	207	271	4.93e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118125

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:AlaDh_PNT_C	47	111	6.6e-9	PFAM
Pfam:Pyr_redox_2	47	111	2e-9	PFAM
Pfam:HI0933_like	67	169	1.8e-8	PFAM
Pfam:FAD_binding_2	68	108	5e-8	PFAM
Pfam:Pyr_redox	68	109	8.5e-8	PFAM
Pfam:DAO	68	159	5.6e-8	PFAM
Pfam:NAD_binding_8	71	138	1.2e-15	PFAM
Pfam:Amino_oxidase	76	511	5.9e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149779

Predicted Effect

probably benign
Transcript: ENSMUST00000207103

Predicted Effect

probably benign
Transcript: ENSMUST00000208172

Predicted Effect

probably benign
Transcript: ENSMUST00000208626

Predicted Effect

probably benign
Transcript: ENSMUST00000209072

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, absence of gastric milk in some mice, decreased body weight in mice that survive and loss of mature olfactory sensory neurons with increased apoptosis in olfactory epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,146 (GRCm39)	L111P	possibly damaging	Het
Adck5	C	A	15: 76,478,926 (GRCm39)	H383Q	probably damaging	Het
Arb2a	T	A	13: 78,147,830 (GRCm39)		probably benign	Het
Asns	T	A	6: 7,675,397 (GRCm39)	H535L	probably benign	Het
Atr	T	C	9: 95,747,599 (GRCm39)	Y294H	probably damaging	Het
B230307C23Rik	A	G	16: 97,809,961 (GRCm39)		probably benign	Het
C1qtnf6	C	T	15: 78,409,416 (GRCm39)	E144K	probably benign	Het
Casp8ap2	C	T	4: 32,648,134 (GRCm39)		probably benign	Het
Cd48	C	A	1: 171,523,307 (GRCm39)	P50Q	possibly damaging	Het
Cnnm4	T	C	1: 36,538,596 (GRCm39)	Y593H	probably benign	Het
Col27a1	G	A	4: 63,144,019 (GRCm39)	R569Q	probably benign	Het
Cubn	A	T	2: 13,470,744 (GRCm39)	C549*	probably null	Het
Dsg1a	T	A	18: 20,474,053 (GRCm39)	M1042K	probably benign	Het
Dzip1	T	A	14: 119,114,651 (GRCm39)	T835S	probably damaging	Het
Eif3c	T	C	7: 126,156,867 (GRCm39)	T389A	probably benign	Het
Erlin2	G	T	8: 27,521,985 (GRCm39)	E177*	probably null	Het
Gabrb1	T	A	5: 72,026,772 (GRCm39)	S91T	possibly damaging	Het
Grik3	T	C	4: 125,579,983 (GRCm39)	V576A	probably damaging	Het
Gtpbp2	T	A	17: 46,474,430 (GRCm39)	Y70N	probably damaging	Het
Idh3a	T	A	9: 54,508,506 (GRCm39)		probably benign	Het
Ift74	G	A	4: 94,568,181 (GRCm39)	R406H	probably benign	Het
Kcna7	C	A	7: 45,055,935 (GRCm39)	N50K	probably damaging	Het
Kcnd2	T	C	6: 21,726,144 (GRCm39)	S546P	probably benign	Het
Lrp4	G	A	2: 91,303,986 (GRCm39)	D134N	probably damaging	Het
Mcm2	A	G	6: 88,864,700 (GRCm39)		probably null	Het
Nlrp12	T	C	7: 3,288,463 (GRCm39)	Y683C	probably benign	Het
Or14j3	A	T	17: 37,900,963 (GRCm39)	Y94N	possibly damaging	Het
Or2d4	T	A	7: 106,543,546 (GRCm39)	I221F	probably damaging	Het
Or8i2	A	G	2: 86,852,228 (GRCm39)	I220T	probably damaging	Het
Or9i1	A	T	19: 13,839,283 (GRCm39)	N42I	probably damaging	Het
Or9i14	T	A	19: 13,792,666 (GRCm39)	H96L	probably benign	Het
P2rx7	A	C	5: 122,814,761 (GRCm39)	I409L	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Rabggtb	A	G	3: 153,615,896 (GRCm39)		probably null	Het
Rgs4	A	T	1: 169,572,085 (GRCm39)	C71*	probably null	Het
Rnase10	T	C	14: 51,245,436 (GRCm39)	F5L	probably benign	Het
Scn11a	T	A	9: 119,609,888 (GRCm39)	T987S	probably benign	Het
Shox2	A	C	3: 66,885,696 (GRCm39)	D126E	probably benign	Het
Slc12a1	A	G	2: 125,059,830 (GRCm39)	D910G	probably damaging	Het
Slc15a1	C	T	14: 121,702,364 (GRCm39)	C594Y	possibly damaging	Het
Spock2	C	T	10: 59,962,883 (GRCm39)		probably benign	Het
Togaram1	G	T	12: 65,013,321 (GRCm39)	D191Y	probably damaging	Het
Triml2	T	C	8: 43,640,660 (GRCm39)	V172A	probably benign	Het
Tubb3	C	T	8: 124,147,705 (GRCm39)	R213C	probably benign	Het
Vmn2r4	A	T	3: 64,313,844 (GRCm39)	V379E	probably damaging	Het
Zfp446	C	T	7: 12,713,493 (GRCm39)	P153L	probably damaging	Het
Zfp608	A	T	18: 55,032,004 (GRCm39)	N645K	probably damaging	Het

Other mutations in Atf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Atf5	APN	7	44,462,473 (GRCm39)	missense	probably damaging	0.99
R0418:Atf5	UTSW	7	44,462,821 (GRCm39)	missense	possibly damaging	0.53
R1709:Atf5	UTSW	7	44,462,707 (GRCm39)	missense	probably benign	0.41
R4041:Atf5	UTSW	7	44,462,921 (GRCm39)	missense	possibly damaging	0.91
R5260:Atf5	UTSW	7	44,464,510 (GRCm39)	nonsense	probably null
R6790:Atf5	UTSW	7	44,462,679 (GRCm39)	splice site	probably null
R7406:Atf5	UTSW	7	44,462,380 (GRCm39)	missense	possibly damaging	0.95
R7421:Atf5	UTSW	7	44,464,562 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-12-03