Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4458001:Afg1l'

555917

Institutional Source

Beutler Lab

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 #

PIT4458001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 42330366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 100 (C100*)

Ref Sequence

ENSEMBL: ENSMUSP00000036149 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

probably null
Transcript: ENSMUST00000041024
AA Change: C100*

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: C100*

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 null
Transcript: ENSMUST00000133326
AA Change: C100*

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: C100*

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: 93.1%
3x: 90.8%
10x: 85.3%
20x: 73.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,248,304 (GRCm39)	V2684L	probably benign	Het
Adamts9	T	A	6: 92,866,886 (GRCm39)	I718F	probably damaging	Het
Adcyap1r1	A	G	6: 55,455,067 (GRCm39)	D110G	probably benign	Het
Adgrd1	G	A	5: 129,208,641 (GRCm39)	G281D	probably damaging	Het
Atp2a2	G	A	5: 122,595,372 (GRCm39)	Q993*	probably null	Het
Baz1a	A	G	12: 54,977,095 (GRCm39)	M389T	probably benign	Het
Btnl4	T	A	17: 34,693,242 (GRCm39)	M58L	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cpeb1	A	T	7: 80,998,180 (GRCm39)	F533Y	probably damaging	Het
Ctnna1	T	A	18: 35,308,179 (GRCm39)	N166K	possibly damaging	Het
Ecsit	T	C	9: 21,987,580 (GRCm39)	H153R	probably damaging	Het
Gbp8	T	C	5: 105,162,955 (GRCm39)	K480E	probably benign	Het
Glyat	A	T	19: 12,625,373 (GRCm39)	T66S	probably benign	Het
Gm1110	T	C	9: 26,792,124 (GRCm39)	Q632R	probably benign	Het
Gm12185	C	T	11: 48,798,738 (GRCm39)	R585Q	probably damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Gm7489	A	C	15: 53,749,195 (GRCm39)	E89A	unknown	Het
Grb7	C	T	11: 98,344,655 (GRCm39)	Q353*	probably null	Het
Ifi207	G	A	1: 173,562,738 (GRCm39)	T136I	unknown	Het
Ighv3-1	T	C	12: 113,928,224 (GRCm39)	Y45C	probably benign	Het
Ing5	A	G	1: 93,739,668 (GRCm39)	M92V	possibly damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Lmo7	C	T	14: 102,124,923 (GRCm39)	Q583*	probably null	Het
Lrrc37a	T	C	11: 103,395,338 (GRCm39)	D29G	probably benign	Het
Mpdz	G	T	4: 81,337,263 (GRCm39)	A10D	probably damaging	Het
Myh4	A	G	11: 67,131,821 (GRCm39)	M94V	possibly damaging	Het
Nectin2	A	C	7: 19,472,252 (GRCm39)	L46V	probably benign	Het
Nynrin	A	T	14: 56,101,425 (GRCm39)	T365S	probably benign	Het
Or4c120	A	T	2: 89,000,977 (GRCm39)	I193K	probably benign	Het
Pde4b	A	C	4: 102,459,875 (GRCm39)	E570A	probably damaging	Het
Phf3	T	C	1: 30,855,622 (GRCm39)	H988R	probably damaging	Het
Ppfia2	A	G	10: 106,763,708 (GRCm39)	K1234E	probably benign	Het
Prl7c1	A	T	13: 27,957,741 (GRCm39)	M233K	probably benign	Het
Prp2	C	T	6: 132,577,510 (GRCm39)	P266S	unknown	Het
Ralgds	T	C	2: 28,432,486 (GRCm39)	L160P	probably damaging	Het
Rasa1	A	T	13: 85,375,237 (GRCm39)	M664K	possibly damaging	Het
Ryr2	T	C	13: 11,570,334 (GRCm39)	T4930A	probably benign	Het
Senp8	T	C	9: 59,644,763 (GRCm39)	Y131C	probably damaging	Het
Sp100	A	G	1: 85,635,837 (GRCm39)	I547M	probably benign	Het
Spata20	A	G	11: 94,375,434 (GRCm39)	M120T	probably damaging	Het
Spata31	A	G	13: 65,069,664 (GRCm39)	H604R	probably benign	Het
Sycp1	A	T	3: 102,842,149 (GRCm39)	S53T	probably benign	Het
Tgm1	T	C	14: 55,950,022 (GRCm39)	D62G	unknown	Het
Trpm1	G	C	7: 63,918,309 (GRCm39)	E1434Q	possibly damaging	Het
Tshb	A	T	3: 102,685,480 (GRCm39)	Y50N	probably damaging	Het
Wdr17	A	T	8: 55,126,614 (GRCm39)	Y413*	probably null	Het
Zdhhc16	G	A	19: 41,926,209 (GRCm39)	G55R	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TATGAAGCGATTTGGACAGGTG -3'
(R):5'- GCTGCTATTCCAAGACCTGTC -3'

Sequencing Primer
(F):5'- CGATTTGGACAGGTGAAGGTAAG -3'
(R):5'- TTCCAAGACCTGTCTAAATGAGCG -3'

Posted On

2019-06-07