Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Aifm2'

374156

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

042442-MU

Accession Numbers

Essential gene?

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

Stock #

R4826 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

61551042-61575039 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61561768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 38 (M38T)

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: M38T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: M38T

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: M38T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: M38T

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: M38T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: M38T

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: M38T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: M38T

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

0.0594

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cntln	T	G	4: 84,923,281 (GRCm39)	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or56a5	G	T	7: 104,793,175 (GRCm39)	N108K	probably damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rassf8	T	A	6: 145,762,276 (GRCm39)	L349H	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc37a1	A	G	17: 31,541,147 (GRCm39)	Y213C	probably damaging	Het
Slc5a1	A	G	5: 33,316,494 (GRCm39)	D580G	probably benign	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	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
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
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'- CTGCTCCCCTGAATCTGATG -3'
(R):5'- AGAACCTAAGCTCTTACTCTAAGGC -3'

Sequencing Primer
(F):5'- GAATCTGATGTATTATCTCCTCCCAG -3'
(R):5'- ACTCTAAGGCCTCATTATGGGAG -3'

Posted On

2016-03-01