Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Afg2a'

196786

Institutional Source

Beutler Lab

Gene Symbol

Afg2a

Ensembl Gene

ENSMUSG00000027722

Gene Name

AFG2 AAA ATPase homolog A

Synonyms

2510048F20Rik, Spata5, C78064, Spaf

MMRRC Submission

039804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37474052-37633245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37493334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 515 (F515L)

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: F514L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: F514L

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: F515L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: F515L

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

noncoding transcript
Transcript: ENSMUST00000124347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142199

Predicted Effect

probably damaging
Transcript: ENSMUST00000198968
AA Change: F515L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: F515L

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,401,195 (GRCm39)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Icam5	T	C	9: 20,944,821 (GRCm39)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc22a8	T	A	19: 8,571,593 (GRCm39)	I108N	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,512 (GRCm39)	G196D	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,803,865 (GRCm39)		probably null	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	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
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
R8511:Afg2a	UTSW	3	37,490,897 (GRCm39)	missense	probably damaging	0.99
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'- ccactgcctggctAAAGTTAATAAATGTCT -3'
(R):5'- ACCTGCCTCATTACACAACGCTTTC -3'

Sequencing Primer
(F):5'- aaatccacctgtctctgcc -3'
(R):5'- TACACAACGCTTTCAAGTCTG -3'

Posted On

2014-05-23