Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Afg1l'

187119

Institutional Source

Beutler Lab

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42312585-42478565 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42426577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 142 (K142N)

Ref Sequence

ENSEMBL: ENSMUSP00000123510 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

probably damaging
Transcript: ENSMUST00000041024
AA Change: K142N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: K142N

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 damaging
Transcript: ENSMUST00000133326
AA Change: K142N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: K142N

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: K9N

SMART Domains

Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302
AA Change: K9N

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

Meta Mutation Damage Score

0.5495

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,377,842	G423E	probably damaging	Het
Acox3	A	T	5: 35,603,027	H429L	probably damaging	Het
Aldh1a7	T	C	19: 20,727,461	I18V	probably benign	Het
Angel2	T	C	1: 190,937,467	Y115H	probably damaging	Het
Bsg	T	G	10: 79,711,518	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,316,775	V83E	probably benign	Het
Caml	C	A	13: 55,631,971	L286I	probably benign	Het
Ccdc125	A	G	13: 100,693,573	I284V	probably benign	Het
Ces2a	G	A	8: 104,737,555		probably benign	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Creg2	C	T	1: 39,623,204	W253*	probably null	Het
Csmd3	T	C	15: 47,696,789	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,983	I292K	probably benign	Het
Dab2ip	T	A	2: 35,720,278	M770K	probably damaging	Het
Dct	T	A	14: 118,034,251	D389V	probably damaging	Het
Dnah17	A	T	11: 118,121,495		probably benign	Het
Dnah6	T	C	6: 73,124,778	E1921G	probably benign	Het
Ehmt1	A	G	2: 24,877,464	S272P	probably damaging	Het
Ero1lb	T	C	13: 12,579,261		probably null	Het
Fnip2	A	G	3: 79,515,149	F108S	probably benign	Het
Foxb1	G	A	9: 69,759,822	A142V	probably damaging	Het
Fras1	A	T	5: 96,598,909	S613C	probably damaging	Het
Gm11639	A	G	11: 104,721,114	K594R	probably benign	Het
Gm7276	C	A	18: 77,185,570		probably benign	Het
Gnb4	A	C	3: 32,590,039	L152*	probably null	Het
H1fnt	G	T	15: 98,256,915	Q118K	probably benign	Het
Hdac7	A	G	15: 97,806,525	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,160,215	E274K	probably benign	Het
Htr4	T	C	18: 62,412,234	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,538,814	Y512F	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Klhl22	C	A	16: 17,776,488	D160E	probably benign	Het
Kpna6	T	A	4: 129,657,471	R80S	probably benign	Het
Lclat1	A	G	17: 73,188,004	E142G	probably damaging	Het
Lrig3	T	C	10: 125,997,701	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1b	T	A	13: 99,431,929	N1428I	unknown	Het
Map3k19	T	A	1: 127,817,656	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,749,748	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,534,322	V66G	probably benign	Het
Mllt10	A	T	2: 18,208,790	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Muc15	C	T	2: 110,733,898	Q260*	probably null	Het
Nfkb1	T	C	3: 135,594,957	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,188,183	W417R	probably damaging	Het
Olfr1279	T	C	2: 111,306,771	C189R	probably damaging	Het
Olfr1285	T	C	2: 111,408,753	Y113H	probably damaging	Het
Olfr1480	A	T	19: 13,529,838	H99L	probably damaging	Het
Olfr250	C	T	9: 38,367,566	H7Y	probably benign	Het
Olfr541	G	T	7: 140,704,794	C181F	probably damaging	Het
Olfr714	T	C	7: 107,074,274	S149P	probably damaging	Het
Pde10a	A	G	17: 8,898,870	D26G	probably damaging	Het
Pi15	G	T	1: 17,621,502	C176F	probably damaging	Het
Pou2f2	T	A	7: 25,092,724	T569S	possibly damaging	Het
Prf1	A	C	10: 61,302,887	E208A	probably benign	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,959,423	V796E	probably benign	Het
Rgl1	T	C	1: 152,533,575	Y503C	probably damaging	Het
Ripk3	T	A	14: 55,786,351	H1L	probably benign	Het
Ryr1	C	T	7: 29,036,078	D4064N	probably damaging	Het
Sec63	T	A	10: 42,798,728		probably null	Het
Slco1a4	T	G	6: 141,839,577	M96L	possibly damaging	Het
Slit3	A	T	11: 35,234,906	R137S	possibly damaging	Het
Smad1	T	C	8: 79,372,029	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,021,481	W201R	probably damaging	Het
Steap1	A	T	5: 5,736,498	L313Q	probably damaging	Het
Syt2	C	A	1: 134,747,620	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,736,912	S225R	probably benign	Het
Thap3	C	T	4: 151,985,704	V78M	probably damaging	Het
Thoc5	A	G	11: 4,919,792	K446R	probably benign	Het
Timmdc1	A	C	16: 38,510,717		probably null	Het
Tm6sf2	G	T	8: 70,078,930		probably benign	Het
Tmem126b	G	T	7: 90,475,971	A2E	probably damaging	Het
Trim9	T	A	12: 70,255,113	R584W	probably damaging	Het
Ttn	C	A	2: 76,830,856		probably benign	Het
Vmn1r25	A	T	6: 57,978,461	I281N	probably damaging	Het
Wdr59	A	G	8: 111,479,362	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,429,580	M575V	unknown	Het
Zfp53	A	G	17: 21,509,504	T600A	probably damaging	Het
Zic5	A	G	14: 122,459,527	S559P	unknown	Het

Other mutations in Afg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Afg1l	APN	10	42339911	missense	possibly damaging	0.86
IGL02041:Afg1l	APN	10	42454380	missense	probably damaging	0.98
IGL02309:Afg1l	APN	10	42454378	missense	possibly damaging	0.90
IGL02323:Afg1l	APN	10	42454510	nonsense	probably null
IGL03088:Afg1l	APN	10	42426497	missense	probably damaging	1.00
PIT4458001:Afg1l	UTSW	10	42454370	nonsense	probably null
R0969:Afg1l	UTSW	10	42318621	missense	probably damaging	1.00
R1703:Afg1l	UTSW	10	42400399	missense	probably damaging	1.00
R1766:Afg1l	UTSW	10	42454495	missense	probably benign	0.00
R2941:Afg1l	UTSW	10	42478295	splice site	probably null
R4846:Afg1l	UTSW	10	42454494	missense	probably benign	0.02
R4887:Afg1l	UTSW	10	42454378	missense	probably benign	0.00
R5668:Afg1l	UTSW	10	42360240	missense	probably damaging	1.00
R5934:Afg1l	UTSW	10	42318686	missense	probably damaging	1.00
R6575:Afg1l	UTSW	10	42318716	missense	probably damaging	1.00
R6972:Afg1l	UTSW	10	42478374	missense	probably benign	0.00
R7270:Afg1l	UTSW	10	42425249	missense	probably damaging	1.00
R7271:Afg1l	UTSW	10	42415548	critical splice donor site	probably null
R7577:Afg1l	UTSW	10	42318611	missense	probably damaging	1.00
R8458:Afg1l	UTSW	10	42426521	missense	probably damaging	0.98
R8824:Afg1l	UTSW	10	42438387	missense	possibly damaging	0.49
R9032:Afg1l	UTSW	10	42318641	missense	probably damaging	1.00
R9085:Afg1l	UTSW	10	42318641	missense	probably damaging	1.00
R9443:Afg1l	UTSW	10	42313591	missense	probably damaging	1.00
Z1176:Afg1l	UTSW	10	42478353	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTCACTTCCAGCAGAAGCCTCG -3'
(R):5'- TCCTCCATCAGAGCAGAGCTACAG -3'

Sequencing Primer
(F):5'- CAGAAGCCTCGGTTTTTTGTTTG -3'
(R):5'- GAGCAGAGCTACAGCCTCC -3'

Posted On

2014-05-09