Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Afg1l'

194385

Institutional Source

Beutler Lab

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

MMRRC Submission

039798-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42312585-42478565 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42454495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 59 (T59A)

Ref Sequence

ENSEMBL: ENSMUSP00000123510 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

probably benign
Transcript: ENSMUST00000041024
AA Change: T59A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: T59A

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
AA Change: T59A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: T59A

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: ENSMUST00000151747

SMART Domains

Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	C	X: 112,241,085	Y22H	probably benign	Het
Ankrd17	T	A	5: 90,264,797	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526		probably null	Het
Ehbp1l1	A	G	19: 5,716,406	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,462,131	P760L	probably damaging	Het
Gabra5	A	T	7: 57,508,048	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7334	T	A	17: 50,698,978	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,431,282	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,657,442	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022	K94E	probably damaging	Het
Mitf	T	C	6: 97,941,099	S26P	probably damaging	Het
Myh4	C	A	11: 67,256,295	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Olfr735	T	C	14: 50,346,220	Y43C	probably damaging	Het
Olfr768	T	C	10: 129,093,747	I76V	probably benign	Het
Olfr845	A	G	9: 19,338,858	T133A	probably benign	Het
Oog3	C	T	4: 144,159,122	G302D	possibly damaging	Het
Pdzph1	C	T	17: 58,973,752	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557	S408A	unknown	Het
Pigk	T	G	3: 152,740,156	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,815,020	S550T	probably benign	Het
Tufm	A	G	7: 126,490,472	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,092,044	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,023,943		probably null	Het
Ywhae	T	C	11: 75,755,665	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zrsr1	A	G	11: 22,973,637	D137G	probably benign	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
R1665:Afg1l	UTSW	10	42426577	missense	probably damaging	1.00
R1703:Afg1l	UTSW	10	42400399	missense	probably damaging	1.00
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'- GGGTCGCATAGAGGCTTAACTTAGC -3'
(R):5'- GCTTGTCGTCCACCTACTTGAGAG -3'

Sequencing Primer
(F):5'- GGCTTAACTTAGCCAGGGATAC -3'
(R):5'- ttgagagataaaggcaggagc -3'

Posted On

2014-05-23