Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01669:Aifm3'

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

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

17307475-17325349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 17321405 bp (GRCm39)

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]

AlphaFold

Q3TY86

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: ENSMUST00000232359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231800

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: 141,126,184 (GRCm39)	D313E	probably damaging	Het
Anks1b	T	C	10: 90,733,100 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,229,840 (GRCm39)	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,546,416 (GRCm39)	Q140*	probably null	Het
Bnipl	T	G	3: 95,150,045 (GRCm39)	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,275,958 (GRCm39)	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,599,432 (GRCm39)	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,294,939 (GRCm39)	G333E	probably damaging	Het
Cul7	G	T	17: 46,969,641 (GRCm39)	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360 (GRCm39)	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,086,495 (GRCm39)	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,085,306 (GRCm39)	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,519,866 (GRCm39)	K456R	probably benign	Het
Drd2	A	G	9: 49,313,389 (GRCm39)	N186S	possibly damaging	Het
Fanci	A	T	7: 79,098,925 (GRCm39)	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,675,522 (GRCm39)		probably benign	Het
Galk2	T	A	2: 125,729,807 (GRCm39)	Y63N	probably damaging	Het
Git2	T	C	5: 114,905,166 (GRCm39)	D97G	probably damaging	Het
Gm8258	T	A	5: 104,923,940 (GRCm39)		noncoding transcript	Het
Irf4	G	T	13: 30,941,454 (GRCm39)	S270I	probably damaging	Het
Itgb3	C	A	11: 104,524,216 (GRCm39)		probably benign	Het
Itpr2	A	C	6: 146,081,727 (GRCm39)	I2299R	probably damaging	Het
Lig4	T	C	8: 10,023,673 (GRCm39)	I36V	probably benign	Het
Nedd9	A	G	13: 41,492,111 (GRCm39)	V133A	probably damaging	Het
Nup133	A	C	8: 124,665,869 (GRCm39)	Y185*	probably null	Het
Or51b6b	A	T	7: 103,310,194 (GRCm39)	F88I	probably benign	Het
Or5d14	T	C	2: 87,880,128 (GRCm39)	Y280C	possibly damaging	Het
Or6c3	A	G	10: 129,309,080 (GRCm39)	H173R	probably damaging	Het
Pgbd5	T	A	8: 125,101,138 (GRCm39)	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,555,480 (GRCm39)	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,518,727 (GRCm39)	V89M	probably damaging	Het
Rnf123	T	C	9: 107,935,555 (GRCm39)	I969V	probably damaging	Het
Ror2	A	G	13: 53,265,124 (GRCm39)	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,411,356 (GRCm39)	E503G	probably benign	Het
Smgc	T	A	15: 91,744,882 (GRCm39)	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,759,504 (GRCm39)	F766V	possibly damaging	Het
Tnc	T	C	4: 63,918,938 (GRCm39)	T1162A	probably damaging	Het
Usp39	A	G	6: 72,315,476 (GRCm39)	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,521,538 (GRCm39)	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,478,137 (GRCm39)	T105A	probably benign	Het

Other mutations in Aifm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Aifm3	APN	16	17,318,228 (GRCm39)	missense	probably damaging	1.00
IGL01663:Aifm3	APN	16	17,320,650 (GRCm39)	critical splice donor site	probably null
IGL01768:Aifm3	APN	16	17,324,141 (GRCm39)	missense	possibly damaging	0.92
IGL02562:Aifm3	APN	16	17,324,126 (GRCm39)	missense	probably benign	0.41
IGL02617:Aifm3	APN	16	17,318,397 (GRCm39)	missense	probably null	0.11
IGL03256:Aifm3	APN	16	17,324,174 (GRCm39)	missense	probably benign	0.07
P0026:Aifm3	UTSW	16	17,324,981 (GRCm39)	unclassified	probably benign
R0638:Aifm3	UTSW	16	17,321,535 (GRCm39)	missense	possibly damaging	0.78
R4928:Aifm3	UTSW	16	17,318,296 (GRCm39)	intron	probably benign
R5141:Aifm3	UTSW	16	17,317,586 (GRCm39)	missense	probably damaging	1.00
R5997:Aifm3	UTSW	16	17,319,994 (GRCm39)	missense	probably benign	0.00
R6463:Aifm3	UTSW	16	17,318,653 (GRCm39)	missense	probably benign	0.00
R8112:Aifm3	UTSW	16	17,320,804 (GRCm39)	missense	probably damaging	0.96
R8962:Aifm3	UTSW	16	17,324,200 (GRCm39)	critical splice donor site	probably null
R9546:Aifm3	UTSW	16	17,317,604 (GRCm39)	missense	probably benign	0.01
R9547:Aifm3	UTSW	16	17,317,604 (GRCm39)	missense	probably benign	0.01
Z1177:Aifm3	UTSW	16	17,321,584 (GRCm39)	missense	probably benign	0.01
Z1177:Aifm3	UTSW	16	17,318,798 (GRCm39)	missense	probably benign	0.25

Posted On

2014-01-21