Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02297:Aifm2'

290209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aifm2

Ensembl Gene

ENSMUSG00000020085

Gene Name

apoptosis-inducing factor, mitochondrion-associated 2

Synonyms

Amid, 5430437E11Rik, D730001I10Rik, PRG3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02297

Quality Score

Status

Chromosome

Chromosomal Location

61551042-61575039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61571327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 287 (A287V)

Ref Sequence

ENSEMBL: ENSMUSP00000101095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020283] [ENSMUST00000067857] [ENSMUST00000080099] [ENSMUST00000099706] [ENSMUST00000105455]

AlphaFold

Q8BUE4

Predicted Effect

probably benign
Transcript: ENSMUST00000020283

SMART Domains

Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086

Domain	Start	End	E-Value	Type
H2A	3	120	5.3e-67	SMART
low complexity region	134	151	N/A	INTRINSIC
low complexity region	157	167	N/A	INTRINSIC
Pfam:Macro	216	330	1.8e-28	PFAM
low complexity region	339	345	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067857
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: A287V

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080099
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: A287V

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	12	302	5.4e-43	PFAM
Pfam:K_oxygenase	94	190	5.2e-7	PFAM
Pfam:Pyr_redox	144	230	7.2e-10	PFAM
low complexity region	328	342	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099706
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: A287V

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105455
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: A287V

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140664

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 flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display reduced sensitivity to genotoxin induced cellular growth inhibition but have no change in spontaneous or induced tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	G	2: 113,980,962 (GRCm39)	I273T	probably benign	Het
Arid3c	T	C	4: 41,730,021 (GRCm39)	E58G	possibly damaging	Het
Col5a3	G	T	9: 20,683,450 (GRCm39)	T1574K	unknown	Het
Dbh	T	C	2: 27,067,748 (GRCm39)	V457A	probably benign	Het
Gm12888	T	C	4: 121,181,996 (GRCm39)	E32G	probably damaging	Het
Gnaq	A	G	19: 16,355,615 (GRCm39)	D277G	probably damaging	Het
Il20	G	A	1: 130,836,145 (GRCm39)	H133Y	probably damaging	Het
Itpr1	T	A	6: 108,316,478 (GRCm39)	F58L	possibly damaging	Het
Lynx1	G	T	15: 74,623,491 (GRCm39)	Q19K	probably benign	Het
Lyst	G	T	13: 13,812,677 (GRCm39)	E1030*	probably null	Het
Matn1	T	A	4: 130,679,575 (GRCm39)		probably benign	Het
Nav2	A	T	7: 49,243,977 (GRCm39)	N2068I	probably damaging	Het
Or5b3	C	T	19: 13,388,839 (GRCm39)	T302I	probably benign	Het
Or8g30	T	C	9: 39,229,999 (GRCm39)	I304V	possibly damaging	Het
Slc25a23	G	T	17: 57,360,324 (GRCm39)	Q273K	probably benign	Het
Slco4a1	T	G	2: 180,106,282 (GRCm39)	C155G	probably benign	Het
Txnip	T	C	3: 96,465,673 (GRCm39)	V41A	probably damaging	Het
Wnt16	C	A	6: 22,297,990 (GRCm39)	Y285*	probably null	Het

Other mutations in Aifm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02561:Aifm2	APN	10	61,561,786 (GRCm39)	missense	probably damaging	1.00
IGL02708:Aifm2	APN	10	61,574,354 (GRCm39)	utr 3 prime	probably benign
R0690:Aifm2	UTSW	10	61,562,231 (GRCm39)	missense	probably benign	0.01
R2119:Aifm2	UTSW	10	61,571,383 (GRCm39)	missense	possibly damaging	0.60
R2404:Aifm2	UTSW	10	61,563,974 (GRCm39)	missense	probably benign	0.08
R4698:Aifm2	UTSW	10	61,563,535 (GRCm39)	missense	probably benign	0.00
R4826:Aifm2	UTSW	10	61,561,768 (GRCm39)	missense	probably benign
R5228:Aifm2	UTSW	10	61,568,196 (GRCm39)	missense	probably damaging	0.99
R5668:Aifm2	UTSW	10	61,561,696 (GRCm39)	missense	probably damaging	1.00
R7378:Aifm2	UTSW	10	61,563,496 (GRCm39)	missense	possibly damaging	0.79
R8307:Aifm2	UTSW	10	61,562,171 (GRCm39)	missense	probably damaging	1.00
R9118:Aifm2	UTSW	10	61,561,681 (GRCm39)	missense	probably benign	0.09
R9130:Aifm2	UTSW	10	61,563,505 (GRCm39)	missense	probably null	0.73
R9321:Aifm2	UTSW	10	61,571,410 (GRCm39)	nonsense	probably null
X0025:Aifm2	UTSW	10	61,571,264 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16