Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Aifm3'

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103395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aifm3

Ensembl Gene

ENSMUSG00000022763

Gene Name

apoptosis-inducing factor, mitochondrion-associated 3

Synonyms

2810401C16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

17489611-17507485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17503541 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 453 (K453T)

Ref Sequence

ENSEMBL: ENSMUSP00000111349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023448] [ENSMUST00000115685]

Predicted Effect

probably benign
Transcript: ENSMUST00000023448
AA Change: K453T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: K453T

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	3.6e-18	PFAM
Pfam:Rieske_2	70	166	7.7e-11	PFAM
Pfam:Pyr_redox_2	196	473	1.1e-34	PFAM
Pfam:Pyr_redox	334	416	7e-17	PFAM
Pfam:Reductase_C	512	591	9.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115685
AA Change: K453T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: K453T

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	6.5e-23	PFAM
Pfam:Rieske_2	70	166	1.4e-10	PFAM
Pfam:Pyr_redox_2	195	493	1.6e-65	PFAM
Pfam:Pyr_redox	334	416	7.3e-18	PFAM
Pfam:Reductase_C	512	586	9.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232421

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Aifm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Aifm3	APN	16	17500364	missense	probably damaging	1.00
IGL01663:Aifm3	APN	16	17502786	critical splice donor site	probably null
IGL01768:Aifm3	APN	16	17506277	missense	possibly damaging	0.92
IGL02562:Aifm3	APN	16	17506262	missense	probably benign	0.41
IGL02617:Aifm3	APN	16	17500533	missense	probably null	0.11
IGL03256:Aifm3	APN	16	17506310	missense	probably benign	0.07
P0026:Aifm3	UTSW	16	17507117	unclassified	probably benign
R0638:Aifm3	UTSW	16	17503671	missense	possibly damaging	0.78
R4928:Aifm3	UTSW	16	17500432	intron	probably benign
R5141:Aifm3	UTSW	16	17499722	missense	probably damaging	1.00
R5997:Aifm3	UTSW	16	17502130	missense	probably benign	0.00
R6463:Aifm3	UTSW	16	17500789	missense	probably benign	0.00
R8112:Aifm3	UTSW	16	17502940	missense	probably damaging	0.96
Z1177:Aifm3	UTSW	16	17500934	missense	probably benign	0.25
Z1177:Aifm3	UTSW	16	17503720	missense	probably benign	0.01

Posted On

2014-01-21