Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Afg1l'

565305

Institutional Source

Beutler Lab

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

MMRRC Submission

045356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 42291544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036149 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

probably null
Transcript: ENSMUST00000041024

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302

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

probably benign
Transcript: ENSMUST00000133326

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302

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

probably null
Transcript: ENSMUST00000151747

SMART Domains

Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302

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

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alpk3	A	G	7: 80,728,202 (GRCm39)	E444G	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Ano6	A	G	15: 95,811,781 (GRCm39)	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,421,944 (GRCm39)	K827Q	probably benign	Het
Atp9a	G	A	2: 168,576,047 (GRCm39)			Het
Casp7	T	A	19: 56,424,793 (GRCm39)	C171S	probably damaging	Het
Ccdc9b	T	A	2: 118,591,164 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdkl1	A	G	12: 69,795,585 (GRCm39)	L315S	probably benign	Het
Cfap91	A	G	16: 38,148,708 (GRCm39)	I240T	probably damaging	Het
Crybg1	G	T	10: 43,873,619 (GRCm39)	S1163*	probably null	Het
Csmd1	A	T	8: 17,077,295 (GRCm39)	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,262,493 (GRCm39)	M88K	possibly damaging	Het
Dlc1	T	C	8: 37,049,954 (GRCm39)	Q587R	probably damaging	Het
Dock2	T	C	11: 34,223,750 (GRCm39)	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,374,320 (GRCm39)	T69S	possibly damaging	Het
Esr1	T	C	10: 4,733,874 (GRCm39)	C225R	probably damaging	Het
Fbxo31	C	T	8: 122,305,503 (GRCm39)		probably benign	Het
Fndc11	G	A	2: 180,863,893 (GRCm39)	V233I	possibly damaging	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gtf2ird1	A	G	5: 134,433,758 (GRCm39)	L223P	probably benign	Het
Ifi214	A	T	1: 173,357,042 (GRCm39)	H20Q	probably damaging	Het
Impa2	T	A	18: 67,439,806 (GRCm39)	I101N	probably damaging	Het
Kidins220	A	T	12: 25,061,570 (GRCm39)	T854S	probably benign	Het
Lamb1	T	A	12: 31,337,423 (GRCm39)	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,755,853 (GRCm39)	S543G	probably benign	Het
Manba	A	T	3: 135,248,137 (GRCm39)	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,893,231 (GRCm39)	D758G	probably benign	Het
Mtor	G	T	4: 148,630,942 (GRCm39)	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409 (GRCm39)	M793K	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Or10ab4	G	A	7: 107,654,423 (GRCm39)	R78Q	probably damaging	Het
Or10ag55-ps1	T	A	2: 87,114,725 (GRCm39)	N30K	probably benign	Het
Or4k77	A	G	2: 111,199,693 (GRCm39)	T239A	probably damaging	Het
Or8g21	A	T	9: 38,905,953 (GRCm39)	Y259*	probably null	Het
Pcdh12	C	A	18: 38,416,100 (GRCm39)	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,441,222 (GRCm39)	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 126,613,690 (GRCm39)	A587V	probably benign	Het
Phkb	C	T	8: 86,770,418 (GRCm39)	P896S	probably damaging	Het
Prss36	A	G	7: 127,543,877 (GRCm39)	S165P	probably benign	Het
Prss43	A	G	9: 110,657,671 (GRCm39)	D190G	probably damaging	Het
Psmd14	T	C	2: 61,591,356 (GRCm39)	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,273,704 (GRCm39)	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,500,631 (GRCm39)	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,378,617 (GRCm39)	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,899,288 (GRCm39)	E262G	probably benign	Het
Slc7a14	A	G	3: 31,278,384 (GRCm39)	L407P	probably damaging	Het
Smyd4	T	C	11: 75,281,325 (GRCm39)	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,913 (GRCm39)	R738S	probably benign	Het
Speer4a2	G	A	5: 26,292,993 (GRCm39)	T67I	probably benign	Het
Srcin1	C	T	11: 97,442,715 (GRCm39)	G38S	probably damaging	Het
Stab2	A	T	10: 86,838,972 (GRCm39)		probably null	Het
Syde2	A	G	3: 145,726,031 (GRCm39)	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,850,611 (GRCm39)	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,727,820 (GRCm39)	I861F	possibly damaging	Het
Zfp319	G	A	8: 96,058,471 (GRCm39)		probably benign	Het
Zfp518b	T	C	5: 38,831,907 (GRCm39)	N33D	probably benign	Het
Zfp874a	T	A	13: 67,591,415 (GRCm39)	I90F	probably benign	Het
Zmiz2	G	T	11: 6,349,593 (GRCm39)	V412L	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
IGL03088:Afg1l	APN	10	42,302,493 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCAACTAGGCTCAGCTTGC -3'
(R):5'- ACTGTTCGATGGCCTTTCATGC -3'

Sequencing Primer
(F):5'- TTCAGATTGAGCCTGGTC -3'
(R):5'- GATGGCCTTTCATGCTTTTAATTATC -3'

Posted On

2019-06-26