Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Afg2a'

655851

Institutional Source

Beutler Lab

Gene Symbol

Afg2a

Ensembl Gene

ENSMUSG00000027722

Gene Name

AFG2 AAA ATPase homolog A

Synonyms

2510048F20Rik, Spata5, C78064, Spaf

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37474052-37633245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37490897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 481 (M481V)

Ref Sequence

ENSEMBL: ENSMUSP00000103747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000108112] [ENSMUST00000198968]

AlphaFold

Q3UMC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029277
AA Change: M480V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: M480V

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	135	2.47e-1	SMART
low complexity region	276	287	N/A	INTRINSIC
AAA	385	524	4.96e-21	SMART
Blast:AAA	553	622	9e-21	BLAST
AAA	659	797	2.48e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108112
AA Change: M481V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: M481V

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	1.14e0	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	4.96e-21	SMART
Blast:AAA	554	623	9e-21	BLAST
AAA	660	798	2.48e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198968
AA Change: M481V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: M481V

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	8.6e-5	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	8.2e-23	SMART
Blast:AAA	554	623	7e-21	BLAST
AAA	660	798	4e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and mental retardation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	probably damaging	Het

Other mutations in Afg2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Afg2a	APN	3	37,505,951 (GRCm39)	missense	possibly damaging	0.60
IGL00472:Afg2a	APN	3	37,490,793 (GRCm39)	missense	probably benign
IGL02664:Afg2a	APN	3	37,490,814 (GRCm39)	missense	probably damaging	1.00
IGL02797:Afg2a	APN	3	37,512,465 (GRCm39)	splice site	probably benign
IGL02869:Afg2a	APN	3	37,518,694 (GRCm39)	missense	probably damaging	1.00
IGL02891:Afg2a	APN	3	37,480,341 (GRCm39)	missense	probably damaging	0.97
IGL03065:Afg2a	APN	3	37,486,328 (GRCm39)	missense	possibly damaging	0.75
IGL03121:Afg2a	APN	3	37,518,800 (GRCm39)	missense	probably damaging	1.00
IGL03178:Afg2a	APN	3	37,632,932 (GRCm39)	missense	probably damaging	1.00
R0494:Afg2a	UTSW	3	37,486,312 (GRCm39)	missense	possibly damaging	0.79
R0621:Afg2a	UTSW	3	37,486,178 (GRCm39)	missense	probably benign	0.06
R0908:Afg2a	UTSW	3	37,485,772 (GRCm39)	splice site	probably null
R1773:Afg2a	UTSW	3	37,493,334 (GRCm39)	missense	probably damaging	0.99
R2016:Afg2a	UTSW	3	37,632,911 (GRCm39)	missense	possibly damaging	0.48
R3714:Afg2a	UTSW	3	37,487,358 (GRCm39)	missense	probably benign
R3836:Afg2a	UTSW	3	37,487,792 (GRCm39)	missense	possibly damaging	0.91
R4548:Afg2a	UTSW	3	37,486,176 (GRCm39)	missense	probably benign	0.03
R4695:Afg2a	UTSW	3	37,512,474 (GRCm39)	missense	probably damaging	1.00
R4758:Afg2a	UTSW	3	37,487,385 (GRCm39)	missense	probably benign	0.01
R5009:Afg2a	UTSW	3	37,487,426 (GRCm39)	splice site	probably benign
R5839:Afg2a	UTSW	3	37,518,803 (GRCm39)	missense	probably damaging	1.00
R6437:Afg2a	UTSW	3	37,582,347 (GRCm39)	missense	probably damaging	1.00
R7067:Afg2a	UTSW	3	37,485,847 (GRCm39)	nonsense	probably null
R7450:Afg2a	UTSW	3	37,510,934 (GRCm39)	missense	probably damaging	1.00
R7889:Afg2a	UTSW	3	37,632,959 (GRCm39)	missense	probably benign	0.01
R7898:Afg2a	UTSW	3	37,474,620 (GRCm39)	missense	probably benign	0.04
R8108:Afg2a	UTSW	3	37,485,931 (GRCm39)	missense	probably benign	0.25
R8870:Afg2a	UTSW	3	37,502,661 (GRCm39)	missense	probably benign	0.35
R8941:Afg2a	UTSW	3	37,486,142 (GRCm39)	missense	probably damaging	0.97
R9475:Afg2a	UTSW	3	37,486,058 (GRCm39)	missense	probably benign
R9605:Afg2a	UTSW	3	37,505,930 (GRCm39)	missense	probably damaging	1.00
Z1176:Afg2a	UTSW	3	37,485,899 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GTTATGAAGGCAGATATATGCTGG -3'
(R):5'- CACTTATTGACACCTGCCTCAG -3'

Sequencing Primer
(F):5'- CAGATATATGCTGGAATATGAGGTTG -3'
(R):5'- CCTGCCTCAGGTTTTAAATTACTATC -3'

Posted On

2020-10-20