Mutagenetix > Incidental Mutation

Incidental Mutation 'R6575:Afg1l'

523404

Institutional Source

Beutler Lab

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

MMRRC Submission

044699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42194712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 360 (D360G)

Ref Sequence

ENSEMBL: ENSMUSP00000036149 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

probably damaging
Transcript: ENSMUST00000041024
AA Change: D360G

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

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: D360G

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

unknown
Transcript: ENSMUST00000151747
AA Change: D227G

SMART Domains

Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302
AA Change: D227G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,330,683 (GRCm39)	Y1177C	probably damaging	Het
Acnat1	A	G	4: 49,450,785 (GRCm39)	Y109H	possibly damaging	Het
Adgrf3	T	A	5: 30,401,522 (GRCm39)	K835N	possibly damaging	Het
Ap3s1	C	T	18: 46,887,448 (GRCm39)	T27M	probably benign	Het
Atp8b4	A	G	2: 126,256,284 (GRCm39)	L225P	probably damaging	Het
Bicra	G	A	7: 15,713,056 (GRCm39)	T997I	probably benign	Het
Bod1l	T	C	5: 41,995,411 (GRCm39)	R112G	probably damaging	Het
Cabin1	T	C	10: 75,561,535 (GRCm39)	T989A	possibly damaging	Het
Cog1	C	A	11: 113,546,887 (GRCm39)	Q494K	probably benign	Het
Cyb5rl	T	C	4: 106,942,550 (GRCm39)	Y160H	probably benign	Het
Dnajb8	A	G	6: 88,200,057 (GRCm39)	N198D	probably damaging	Het
Eif1ad11	T	C	12: 87,994,117 (GRCm39)	I115T	probably damaging	Het
Eif3l	C	A	15: 78,970,778 (GRCm39)	Q351K	possibly damaging	Het
Esr1	T	C	10: 4,916,301 (GRCm39)		probably benign	Het
Fam3c	G	T	6: 22,329,607 (GRCm39)	A40D	probably damaging	Het
Fcrla	A	G	1: 170,749,797 (GRCm39)	S87P	probably damaging	Het
Glra1	A	G	11: 55,411,822 (GRCm39)	Y246H	probably damaging	Het
Gm45871	T	A	18: 90,609,844 (GRCm39)	C361S	probably damaging	Het
Greb1l	A	G	18: 10,547,347 (GRCm39)	N1522D	possibly damaging	Het
Hcn4	T	C	9: 58,731,435 (GRCm39)	M214T	unknown	Het
Heatr5b	A	T	17: 79,070,418 (GRCm39)	V1665E	probably damaging	Het
Hemgn	C	A	4: 46,395,990 (GRCm39)	M415I	possibly damaging	Het
Hibadh	G	A	6: 52,524,013 (GRCm39)	T295I	probably damaging	Het
Iars1	T	C	13: 49,878,745 (GRCm39)	L947P	probably damaging	Het
Icam2	G	A	11: 106,269,585 (GRCm39)	T178I	probably damaging	Het
Lbr	A	G	1: 181,663,763 (GRCm39)	S86P	probably damaging	Het
Lipe	G	A	7: 25,082,749 (GRCm39)	T801I	probably benign	Het
Lrp6	T	C	6: 134,518,934 (GRCm39)	T44A	possibly damaging	Het
Malrd1	A	G	2: 15,847,439 (GRCm39)	H1193R	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,699,676 (GRCm39)	I1671V	probably benign	Het
Or2c1	A	G	16: 3,656,894 (GRCm39)	D19G	probably benign	Het
Osbpl9	T	C	4: 108,930,129 (GRCm39)	D334G	possibly damaging	Het
Pdcd11	A	G	19: 47,098,117 (GRCm39)	D801G	probably damaging	Het
Pfdn4	C	A	2: 170,358,556 (GRCm39)	D16E	probably benign	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Rrp9	C	T	9: 106,360,778 (GRCm39)	T253I	probably damaging	Het
Speer1m	A	T	5: 11,970,612 (GRCm39)	K62*	probably null	Het
Tnrc6a	A	G	7: 122,769,133 (GRCm39)	T308A	probably damaging	Het
Trgv4	T	A	13: 19,369,250 (GRCm39)	C34S	probably benign	Het
Trhr	A	G	15: 44,092,602 (GRCm39)	M280V	possibly damaging	Het
Trp53bp1	G	A	2: 121,059,084 (GRCm39)	H926Y	probably damaging	Het
Trpv5	A	T	6: 41,652,903 (GRCm39)	I90K	probably benign	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Vav1	A	C	17: 57,612,280 (GRCm39)	R513S	probably damaging	Het
Vmn2r100	A	T	17: 19,741,671 (GRCm39)	T128S	probably benign	Het
Zfp687	T	C	3: 94,915,700 (GRCm39)	Y1024C	probably damaging	Het
Zfp938	C	A	10: 82,061,160 (GRCm39)	G487*	probably null	Het
Znrf2	A	G	6: 54,855,430 (GRCm39)	Y73C	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
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'- TTAGCATATCCGCGATTCTGGC -3'
(R):5'- GGGCAAGGGTCCTTACAATTTG -3'

Sequencing Primer
(F):5'- GGCCATCTGACTTCACAGC -3'
(R):5'- GCAAGGGTCCTTACAATTTGTCATG -3'

Posted On

2018-06-22