Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Afg1l'

418210

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42302493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 169 (D169V)

Ref Sequence

ENSEMBL: ENSMUSP00000036149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041024] [ENSMUST00000133326]

AlphaFold

Q3V384

Predicted Effect

probably damaging
Transcript: ENSMUST00000041024
AA Change: D169V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: D169V

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
Pfam:AFG1_ATPase	74	432	4.4e-110	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133326
AA Change: D169V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: D169V

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
Pfam:AFG1_ATPase	73	272	2e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149832

SMART Domains

Protein: ENSMUSP00000119620
Gene: ENSMUSG00000038302

Domain	Start	End	E-Value	Type
Pfam:AFG1_ATPase	2	80	5.3e-29	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000151747
AA Change: D36V

SMART Domains

Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302
AA Change: D36V

Domain	Start	End	E-Value	Type
Pfam:AFG1_ATPase	5	300	2e-97	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,893,362 (GRCm39)	T34S	probably benign	Het
Haspin	C	T	11: 73,027,451 (GRCm39)	R546Q	probably damaging	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,634,455 (GRCm39)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Popdc2	A	T	16: 38,194,184 (GRCm39)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,682,308 (GRCm39)	S311P	probably damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	probably damaging	Het

Other mutations in Afg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Afg1l	APN	10	42,215,907 (GRCm39)	missense	possibly damaging	0.86
IGL02041:Afg1l	APN	10	42,330,376 (GRCm39)	missense	probably damaging	0.98
IGL02309:Afg1l	APN	10	42,330,374 (GRCm39)	missense	possibly damaging	0.90
IGL02323:Afg1l	APN	10	42,330,506 (GRCm39)	nonsense	probably null
PIT4458001:Afg1l	UTSW	10	42,330,366 (GRCm39)	nonsense	probably null
R0969:Afg1l	UTSW	10	42,194,617 (GRCm39)	missense	probably damaging	1.00
R1665:Afg1l	UTSW	10	42,302,573 (GRCm39)	missense	probably damaging	1.00
R1703:Afg1l	UTSW	10	42,276,395 (GRCm39)	missense	probably damaging	1.00
R1766:Afg1l	UTSW	10	42,330,491 (GRCm39)	missense	probably benign	0.00
R2941:Afg1l	UTSW	10	42,354,291 (GRCm39)	splice site	probably null
R4846:Afg1l	UTSW	10	42,330,490 (GRCm39)	missense	probably benign	0.02
R4887:Afg1l	UTSW	10	42,330,374 (GRCm39)	missense	probably benign	0.00
R5668:Afg1l	UTSW	10	42,236,236 (GRCm39)	missense	probably damaging	1.00
R5934:Afg1l	UTSW	10	42,194,682 (GRCm39)	missense	probably damaging	1.00
R6575:Afg1l	UTSW	10	42,194,712 (GRCm39)	missense	probably damaging	1.00
R6972:Afg1l	UTSW	10	42,354,370 (GRCm39)	missense	probably benign	0.00
R7270:Afg1l	UTSW	10	42,301,245 (GRCm39)	missense	probably damaging	1.00
R7271:Afg1l	UTSW	10	42,291,544 (GRCm39)	critical splice donor site	probably null
R7577:Afg1l	UTSW	10	42,194,607 (GRCm39)	missense	probably damaging	1.00
R8458:Afg1l	UTSW	10	42,302,517 (GRCm39)	missense	probably damaging	0.98
R8824:Afg1l	UTSW	10	42,314,383 (GRCm39)	missense	possibly damaging	0.49
R9032:Afg1l	UTSW	10	42,194,637 (GRCm39)	missense	probably damaging	1.00
R9085:Afg1l	UTSW	10	42,194,637 (GRCm39)	missense	probably damaging	1.00
R9443:Afg1l	UTSW	10	42,189,587 (GRCm39)	missense	probably damaging	1.00
Z1176:Afg1l	UTSW	10	42,354,349 (GRCm39)	frame shift	probably null

Posted On

2016-08-02