Mutagenetix > Incidental Mutation

Incidental Mutation 'R4695:Afg2a'

355609

Institutional Source

Beutler Lab

Gene Symbol

Afg2a

Ensembl Gene

ENSMUSG00000027722

Gene Name

AFG2 AAA ATPase homolog A

Synonyms

2510048F20Rik, Spata5, C78064, Spaf

MMRRC Submission

042016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37474052-37633245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37512474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 713 (F713C)

Ref Sequence

ENSEMBL: ENSMUSP00000143349 (fasta)

Gene Model

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

AlphaFold

Q3UMC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029277
AA Change: F712C

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

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: F712C

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: F713C

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

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: F713C

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: ENSMUST00000130674

Predicted Effect

probably damaging
Transcript: ENSMUST00000198968
AA Change: F713C

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

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: F713C

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or51e1	T	G	7: 102,358,764 (GRCm39)	C99W	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Pcyt2	T	C	11: 120,502,000 (GRCm39)	D321G	probably benign	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc45a4	A	G	15: 73,453,924 (GRCm39)	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Stt3b	A	T	9: 115,083,862 (GRCm39)	V438E	probably damaging	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	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
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'- ACTGATTACTGAGCTGGTCTTTCTG -3'
(R):5'- GTGGGTCATATAGTAGCAGCTTTC -3'

Sequencing Primer
(F):5'- ACTGAGCTGGTCTTTCTGTATTATG -3'
(R):5'- TTTCAAATGCTATCCCAAAAGTCC -3'

Posted On

2015-10-21