Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Aifm2'

248869

Institutional Source

Beutler Lab

Gene Symbol

Aifm2

Ensembl Gene

ENSMUSG00000020085

Gene Name

apoptosis-inducing factor, mitochondrion-associated 2

Synonyms

Amid, 5430437E11Rik, D730001I10Rik, PRG3

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R2404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61551042-61575039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61563974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 161 (I161V)

Ref Sequence

ENSEMBL: ENSMUSP00000101095 (fasta)

Gene Model

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

AlphaFold

Q8BUE4

Predicted Effect

probably benign
Transcript: ENSMUST00000067857
AA Change: I161V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: I161V

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

probably benign
Transcript: ENSMUST00000080099
AA Change: I161V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: I161V

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

probably benign
Transcript: ENSMUST00000099706
AA Change: I161V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: I161V

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

probably benign
Transcript: ENSMUST00000105455
AA Change: I161V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: I161V

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: ENSMUST00000131361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140664

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,618,463 (GRCm39)	H867Q	probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Egfl7	G	A	2: 26,479,162 (GRCm39)	E25K	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Ubxn2a	T	C	12: 4,933,851 (GRCm39)	T187A	probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zc3h12a	T	C	4: 125,013,316 (GRCm39)	Y516C	probably damaging	Het
Zfp616	A	C	11: 73,975,682 (GRCm39)	K650N	probably damaging	Het

Other mutations in Aifm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02297:Aifm2	APN	10	61,571,327 (GRCm39)	missense	possibly damaging	0.62
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCCCCAGTGATCCTTTGAGG -3'
(R):5'- AGATGGAAAATGTACTCTGCTTACG -3'

Sequencing Primer
(F):5'- CTTTGAGGTGGGGAGGAGCAC -3'
(R):5'- GCTGAGAGTTCATAGCCA -3'

Posted On

2014-11-11