Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Afg1l'

673338

Institutional Source

Beutler Lab

Gene Symbol

Afg1l

Ensembl Gene

ENSMUSG00000038302

Gene Name

AFG1 like ATPase

Synonyms

Lace1

MMRRC Submission

068657-MU

Accession Numbers

Essential gene?

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

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42188581-42354561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42314383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 128 (P128S)

Ref Sequence

ENSEMBL: ENSMUSP00000036149 (fasta)

Gene Model

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

AlphaFold

Q3V384

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041024
AA Change: P128S

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: P128S

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: P128S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: P128S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,693,195 (GRCm39)	V260D	probably damaging	Het
Adora2a	G	A	10: 75,162,013 (GRCm39)	A51T	probably damaging	Het
Ago4	C	A	4: 126,400,977 (GRCm39)	V623L	probably benign	Het
Akap11	A	T	14: 78,753,787 (GRCm39)	N112K		Het
C1ra	A	T	6: 124,494,654 (GRCm39)	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,822,222 (GRCm39)	N724D	possibly damaging	Het
Cd248	A	G	19: 5,119,645 (GRCm39)	I498V	probably benign	Het
Clrn1	A	T	3: 58,792,314 (GRCm39)	S50T	probably benign	Het
Col7a1	A	G	9: 108,796,093 (GRCm39)	K1553R	unknown	Het
Cxcr6	A	C	9: 123,640,006 (GRCm39)	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,727,914 (GRCm39)	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,114,320 (GRCm39)		probably null	Het
Dnmbp	A	G	19: 43,838,276 (GRCm39)	V742A	probably benign	Het
Dusp16	A	T	6: 134,716,732 (GRCm39)	S192T	probably benign	Het
Ehbp1	A	T	11: 22,182,053 (GRCm39)	D87E	probably damaging	Het
Fgl1	A	G	8: 41,652,748 (GRCm39)	V150A	probably benign	Het
Flt3	T	C	5: 147,271,673 (GRCm39)	D873G	probably damaging	Het
Gart	T	C	16: 91,427,591 (GRCm39)	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,875,625 (GRCm39)	S85A	probably benign	Het
Golgb1	A	G	16: 36,736,051 (GRCm39)	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,351 (GRCm39)	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,092,676 (GRCm39)	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,475,998 (GRCm39)	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,307 (GRCm39)	E412*	probably null	Het
Krt4	T	A	15: 101,829,077 (GRCm39)	D312V		Het
Krtap26-1	T	C	16: 88,444,324 (GRCm39)	Y99C	probably damaging	Het
Krtap26-1	A	T	16: 88,444,303 (GRCm39)	I106N	probably damaging	Het
Lipn	T	C	19: 34,062,116 (GRCm39)	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,512,068 (GRCm39)	L4P	probably damaging	Het
Mrgpra9	A	T	7: 46,885,041 (GRCm39)	C209S	probably benign	Het
Myh7b	A	G	2: 155,472,301 (GRCm39)	N1291D	probably benign	Het
Myo5a	A	G	9: 75,074,328 (GRCm39)	T746A	probably damaging	Het
Myom2	A	C	8: 15,164,169 (GRCm39)	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,247,409 (GRCm39)	R338H	probably benign	Het
Ncor2	A	G	5: 125,195,821 (GRCm39)	F91L		Het
Neb	C	G	2: 52,106,923 (GRCm39)	A4407P	probably damaging	Het
Or10u4	C	T	10: 129,801,661 (GRCm39)	V297M	probably damaging	Het
Or1j18	A	T	2: 36,625,203 (GRCm39)	Y290F	probably damaging	Het
Or4b1b	A	G	2: 90,126,356 (GRCm39)	I283T	probably damaging	Het
Or5d47	A	G	2: 87,804,347 (GRCm39)	F221L	probably benign	Het
Or5p76	T	G	7: 108,122,350 (GRCm39)	Y269S	probably benign	Het
Or5w12	T	C	2: 87,502,304 (GRCm39)	M136V	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Piwil4	C	A	9: 14,638,771 (GRCm39)	K298N	probably benign	Het
Prkcz	G	A	4: 155,429,285 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,090,067 (GRCm39)	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,041,446 (GRCm39)	K89*	probably null	Het
Rapgef3	C	T	15: 97,664,789 (GRCm39)	A25T	probably benign	Het
Rreb1	C	T	13: 38,114,492 (GRCm39)	T617I	probably damaging	Het
Rsph1	A	C	17: 31,492,350 (GRCm39)	V72G	possibly damaging	Het
Shc2	A	G	10: 79,473,536 (GRCm39)	V50A	probably benign	Het
Slc38a9	G	A	13: 112,838,021 (GRCm39)	R262H	probably benign	Het
Slco6c1	T	A	1: 97,055,884 (GRCm39)	N6Y	possibly damaging	Het
Smarca5	A	G	8: 81,431,961 (GRCm39)	F886L	probably benign	Het
Tas1r2	A	G	4: 139,381,074 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,630,680 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,007,113 (GRCm39)		probably benign	Het
Trim55	T	C	3: 19,727,126 (GRCm39)	S398P	probably benign	Het
Ttc39c	T	A	18: 12,820,003 (GRCm39)		probably benign	Het
Ubxn10	A	G	4: 138,463,178 (GRCm39)		probably null	Het
Usf3	A	G	16: 44,035,976 (GRCm39)	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,445 (GRCm39)	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680 (GRCm39)		probably benign	Het
Zfp780b	T	C	7: 27,662,893 (GRCm39)	Y554C	probably benign	Het
Zhx2	C	T	15: 57,684,676 (GRCm39)	T15I	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
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
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'- GTGACACTGCTTCTGCTTTAAC -3'
(R):5'- TTTGCAGACTTTCACACCAAG -3'

Sequencing Primer
(F):5'- GCCTATGAGCATCAATGGCG -3'
(R):5'- GCCTCCTTGATGTCCTATA -3'

Posted On

2021-07-15