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

Essential gene?

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

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42330491 bp (GRCm39)

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
Ankrd17	T	A	5: 90,412,656 (GRCm39)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,474,472 (GRCm39)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,445,952 (GRCm39)	I131T	probably damaging	Het
Arhgef10	A	T	8: 15,029,836 (GRCm39)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
BC051665	G	A	13: 60,932,854 (GRCm39)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,392 (GRCm39)	D69G	probably damaging	Het
Chd6	G	A	2: 160,808,559 (GRCm39)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,556,191 (GRCm39)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,343,179 (GRCm39)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm39)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm39)		probably null	Het
Ehbp1l1	A	G	19: 5,766,434 (GRCm39)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,934,704 (GRCm39)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,557,843 (GRCm39)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,619,475 (GRCm39)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,157,796 (GRCm39)	L6H	probably benign	Het
Gabrq	G	A	X: 71,876,989 (GRCm39)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm7334	T	A	17: 51,006,006 (GRCm39)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,215,395 (GRCm39)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,111,611 (GRCm39)	Y79*	probably null	Het
Hcn1	T	A	13: 117,793,270 (GRCm39)	V174D	probably benign	Het
Hic1	G	T	11: 75,056,620 (GRCm39)	C756*	probably null	Het
Hivep3	C	T	4: 119,953,868 (GRCm39)	T728I	probably benign	Het
Ice1	T	C	13: 70,752,561 (GRCm39)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,338,598 (GRCm39)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,551,235 (GRCm39)	D90G	probably benign	Het
Krt73	C	T	15: 101,702,363 (GRCm39)	G500D	probably damaging	Het
Lama3	A	G	18: 12,535,119 (GRCm39)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,531,927 (GRCm39)	K94E	probably damaging	Het
Mitf	T	C	6: 97,918,060 (GRCm39)	S26P	probably damaging	Het
Myh4	C	A	11: 67,147,121 (GRCm39)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,076,113 (GRCm39)	V671E	probably benign	Het
Nop9	C	T	14: 55,989,591 (GRCm39)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,323,474 (GRCm39)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,685,825 (GRCm39)	C766S	probably damaging	Het
Oog3	C	T	4: 143,885,692 (GRCm39)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,583,677 (GRCm39)	Y43C	probably damaging	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Or6c38	T	C	10: 128,929,616 (GRCm39)	I76V	probably benign	Het
Or7g27	A	G	9: 19,250,154 (GRCm39)	T133A	probably benign	Het
Pdzph1	C	T	17: 59,280,747 (GRCm39)	V512I	probably benign	Het
Phf2	A	C	13: 48,973,033 (GRCm39)	S408A	unknown	Het
Pigk	T	G	3: 152,445,793 (GRCm39)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,012,773 (GRCm39)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,024,741 (GRCm39)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 100,957,438 (GRCm39)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rims2	T	A	15: 39,325,976 (GRCm39)	D769E	probably damaging	Het
Rptor	T	A	11: 119,615,887 (GRCm39)	C134S	probably damaging	Het
S100a1	A	G	3: 90,418,599 (GRCm39)	F72L	probably damaging	Het
Scube1	T	A	15: 83,606,146 (GRCm39)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,418,446 (GRCm39)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,689 (GRCm39)	T397A	probably benign	Het
Siglece	G	A	7: 43,300,956 (GRCm39)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,819,658 (GRCm39)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,685,093 (GRCm39)	V156A	probably benign	Het
Smchd1	A	T	17: 71,698,374 (GRCm39)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,592,314 (GRCm39)	W326C	possibly damaging	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tex16	T	C	X: 111,150,782 (GRCm39)	Y22H	probably benign	Het
Tiparp	A	T	3: 65,439,470 (GRCm39)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,413,548 (GRCm39)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,681,090 (GRCm39)	V338D	probably damaging	Het
Trdn	A	G	10: 33,240,004 (GRCm39)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm39)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,464,768 (GRCm39)	S550T	probably benign	Het
Tufm	A	G	7: 126,089,644 (GRCm39)	D446G	probably benign	Het
Vipr1	A	T	9: 121,490,485 (GRCm39)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,620,740 (GRCm39)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,239,910 (GRCm39)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,242,919 (GRCm39)		probably null	Het
Ywhae	T	C	11: 75,646,491 (GRCm39)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,257,888 (GRCm39)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,923,637 (GRCm39)	D137G	probably benign	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
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

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