Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Atf5'

574736

Institutional Source

Beutler Lab

Gene Symbol

Atf5

Ensembl Gene

ENSMUSG00000038539

Gene Name

activating transcription factor 5

Synonyms

Atf7, ODA-10, Atfx, AFTA

MMRRC Submission

045487-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.560) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44461680-44466082 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44462380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 248 (N248S)

Ref Sequence

ENSEMBL: ENSMUSP00000047771 (fasta)

Gene Model

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

AlphaFold

O70191

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047356
AA Change: N248S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: N248S

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

possibly damaging
Transcript: ENSMUST00000107893
AA Change: N248S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: N248S

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

probably benign
Transcript: ENSMUST00000207103

Predicted Effect

probably benign
Transcript: ENSMUST00000208172

Predicted Effect

probably benign
Transcript: ENSMUST00000208626

Predicted Effect

probably benign
Transcript: ENSMUST00000209072

Meta Mutation Damage Score

0.1419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,249,391 (GRCm39)	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Or8b1b	T	A	9: 38,375,439 (GRCm39)	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,483,387 (GRCm39)	S229T	possibly damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Spata6	T	A	4: 111,638,017 (GRCm39)	D282E	possibly damaging	Het
Srek1	A	T	13: 103,905,890 (GRCm39)	V77E	probably damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	probably benign	Het

Other mutations in Atf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Atf5	APN	7	44,462,462 (GRCm39)	missense	probably damaging	0.97
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
R7421:Atf5	UTSW	7	44,464,562 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCTGCCAAATAGCCCACAGTG -3'
(R):5'- ATTCAGGCTTGTCAACCCTG -3'

Sequencing Primer
(F):5'- CCACAGTGGGTTAGGCAG -3'
(R):5'- TGCCTGTCCCACAGCAG -3'

Posted On

2019-10-07