Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Aifm3'

630962

Institutional Source

Beutler Lab

Gene Symbol

Aifm3

Ensembl Gene

ENSMUSG00000022763

Gene Name

apoptosis-inducing factor, mitochondrion-associated 3

Synonyms

2810401C16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17489611-17507485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17502940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

Ref Sequence

ENSEMBL: ENSMUSP00000111349 (fasta)

Gene Model

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

AlphaFold

Q3TY86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023448
AA Change: V422A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: V422A

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 damaging
Transcript: ENSMUST00000115685
AA Change: V422A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: V422A

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,314,624	V3002A	probably benign	Het
Alx3	G	T	3: 107,604,984	E313*	probably null	Het
Arfgef3	A	G	10: 18,652,631	V336A	possibly damaging	Het
Art5	A	T	7: 102,098,011	V187E	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
B3galt1	A	G	2: 68,118,358	D139G	probably damaging	Het
BC005561	T	C	5: 104,521,635	F1341S	probably benign	Het
Cbx5	A	G	15: 103,199,744	V158A	probably benign	Het
Cdca7l	T	C	12: 117,877,044		probably null	Het
Cecr2	T	C	6: 120,762,214	S1301P	probably benign	Het
Chmp3	T	A	6: 71,561,028	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,819,461	D427E	probably benign	Het
Depdc5	G	A	5: 32,968,706	V1199I	possibly damaging	Het
Ehmt1	G	T	2: 24,863,384	L335M	probably damaging	Het
Elfn2	A	G	15: 78,673,435	V304A	probably damaging	Het
Emc1	C	T	4: 139,367,187	R684W	probably benign	Het
Eme2	A	T	17: 24,894,835	V72E	probably damaging	Het
Fam208b	A	T	13: 3,569,516	D2238E	probably damaging	Het
Gen1	T	A	12: 11,254,373	K230*	probably null	Het
Gfap	T	A	11: 102,897,102	I6F	probably benign	Het
Gm11639	T	C	11: 104,950,200	V3643A	unknown	Het
Grid2	T	C	6: 63,908,907	S96P	probably damaging	Het
H2-M2	A	G	17: 37,483,492	L13P	unknown	Het
Hps4	T	G	5: 112,370,111	C323W	probably benign	Het
Ing3	A	G	6: 21,952,182	K52E	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Klhl3	C	T	13: 58,013,863	V473M	possibly damaging	Het
Krt4	T	A	15: 101,920,289	N380I	probably damaging	Het
Lrp1	A	T	10: 127,605,846	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,235,575	I600T	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Mindy1	T	C	3: 95,294,811	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,447,934	S77P	probably damaging	Het
Mtus2	G	T	5: 148,076,903	E169*	probably null	Het
Muc5b	A	G	7: 141,862,028	T2904A	possibly damaging	Het
Noxa1	C	T	2: 25,092,541		probably null	Het
Ogfod3	G	A	11: 121,204,550	R5W	probably damaging	Het
Olfr1312	T	A	2: 112,042,637	I132F	probably damaging	Het
Olfr1504	A	G	19: 13,887,389	S274P	probably damaging	Het
Olfr855	T	A	9: 19,584,724	F62L	probably benign	Het
Pgm3	C	A	9: 86,564,775	R230L	probably benign	Het
Plpbp	A	G	8: 27,046,041	I121V	unknown	Het
Prl8a9	T	C	13: 27,559,372	D150G	probably benign	Het
Psapl1	A	G	5: 36,205,575	N504D	probably benign	Het
Ptchd4	A	C	17: 42,503,175	N656H	probably benign	Het
Ptprs	A	T	17: 56,434,532	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,967,401	Y263C	probably damaging	Het
Rinl	A	G	7: 28,790,589		probably null	Het
Scd4	T	C	19: 44,337,506	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,364,544	R100S	probably benign	Het
Scn8a	C	T	15: 101,029,837	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,436,830	V267A	probably benign	Het
Slc7a11	T	C	3: 50,417,991	E263G	possibly damaging	Het
Slmap	A	G	14: 26,422,548	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,910,152		probably null	Het
Sspn	T	C	6: 145,955,635	V80A	possibly damaging	Het
Terb1	T	C	8: 104,468,767	T581A	probably benign	Het
Themis	A	G	10: 28,797,506	*596W	probably null	Het
Trac	T	C	14: 54,223,100		probably benign	Het
Trim37	T	C	11: 87,218,267	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,904,266	T231A	probably benign	Het
Ttn	T	C	2: 76,750,185	I23455V	probably benign	Het
Wap	G	T	11: 6,636,724	T125K	probably benign	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Zfp85	T	C	13: 67,748,774	D393G	possibly damaging	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
IGL01669:Aifm3	APN	16	17503541	missense	probably benign	0.06
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
R8962:Aifm3	UTSW	16	17506336	critical splice donor site	probably null
R9546:Aifm3	UTSW	16	17499740	missense	probably benign	0.01
R9547:Aifm3	UTSW	16	17499740	missense	probably benign	0.01
Z1177:Aifm3	UTSW	16	17500934	missense	probably benign	0.25
Z1177:Aifm3	UTSW	16	17503720	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAACCGGGTGAAGTTCTATATGC -3'
(R):5'- AGCTGGTATCATAGAGAGCAGTC -3'

Sequencing Primer
(F):5'- TCAGAGTTGCGGGCTCAAG -3'
(R):5'- CTGGTATCATAGAGAGCAGTCACCTG -3'

Posted On

2020-06-30