Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Afg2a'

42613

Institutional Source

Beutler Lab

Gene Symbol

Afg2a

Ensembl Gene

ENSMUSG00000027722

Gene Name

AFG2 AAA ATPase homolog A

Synonyms

2510048F20Rik, Spata5, C78064, Spaf

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37474052-37633245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 37486312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 345 (D345H)

Ref Sequence

ENSEMBL: ENSMUSP00000103747 (fasta)

Gene Model

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

AlphaFold

Q3UMC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029277
AA Change: D344H

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: D344H

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

possibly damaging
Transcript: ENSMUST00000108112
AA Change: D345H

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: D345H

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

possibly damaging
Transcript: ENSMUST00000198968
AA Change: D345H

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: D345H

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

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,402,339 (GRCm39)	I116V	probably benign	Het
Abhd18	T	C	3: 40,871,123 (GRCm39)	F94S	probably damaging	Het
Adam28	T	A	14: 68,868,241 (GRCm39)		probably benign	Het
Amn1	A	T	6: 149,086,634 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,170,199 (GRCm39)	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,223,921 (GRCm39)	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,618,785 (GRCm39)		probably benign	Het
Atg2a	A	G	19: 6,303,407 (GRCm39)	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,872,731 (GRCm39)	F760L	probably damaging	Het
B9d1	A	G	11: 61,403,271 (GRCm39)		probably benign	Het
Batf	C	T	12: 85,733,636 (GRCm39)		probably benign	Het
BC051019	T	A	7: 109,317,182 (GRCm39)	Y170F	probably benign	Het
Bphl	T	C	13: 34,221,754 (GRCm39)	*37Q	probably null	Het
Cab39l	T	C	14: 59,737,008 (GRCm39)	S43P	probably damaging	Het
Cad	A	G	5: 31,234,856 (GRCm39)		probably benign	Het
Cct4	T	G	11: 22,946,014 (GRCm39)	S119A	probably benign	Het
Cd163	G	A	6: 124,288,408 (GRCm39)	V280M	probably damaging	Het
Cd86	A	G	16: 36,438,999 (GRCm39)		probably benign	Het
Cdh23	G	A	10: 60,152,375 (GRCm39)		probably benign	Het
Cdhr5	A	G	7: 140,852,431 (GRCm39)	F145S	probably damaging	Het
Cdt1	T	C	8: 123,298,799 (GRCm39)	S479P	possibly damaging	Het
Ces2g	T	C	8: 105,693,199 (GRCm39)	V372A	probably benign	Het
Chrna3	T	C	9: 54,929,562 (GRCm39)	D92G	probably damaging	Het
Cndp1	A	G	18: 84,637,658 (GRCm39)	S359P	probably benign	Het
Cops4	A	G	5: 100,676,528 (GRCm39)	Q93R	probably damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dmp1	A	T	5: 104,360,074 (GRCm39)	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,216,278 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,899,996 (GRCm39)	T113A	possibly damaging	Het
Egln3	T	A	12: 54,250,107 (GRCm39)	I81F	probably benign	Het
Elapor2	G	A	5: 9,470,723 (GRCm39)		probably null	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940 (GRCm39)	N115K	probably benign	Het
Fat1	A	T	8: 45,403,579 (GRCm39)	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,054 (GRCm39)	K370N	probably damaging	Het
Galnt18	T	A	7: 111,153,771 (GRCm39)	K284N	probably damaging	Het
Glt8d1	C	A	14: 30,733,580 (GRCm39)	T355K	possibly damaging	Het
Gm17455	G	A	10: 60,239,014 (GRCm39)	R93H	possibly damaging	Het
Gng8	T	A	7: 16,629,213 (GRCm39)	D46E	probably benign	Het
Gpx4	T	C	10: 79,892,011 (GRCm39)		probably benign	Het
Grk2	A	T	19: 4,341,347 (GRCm39)	N189K	probably damaging	Het
Grm5	T	C	7: 87,779,989 (GRCm39)	V1143A	probably benign	Het
Hibch	A	G	1: 52,942,055 (GRCm39)	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,706,924 (GRCm39)	A682T	probably benign	Het
Hmcn1	G	T	1: 150,608,543 (GRCm39)		probably benign	Het
Htt	A	G	5: 34,979,188 (GRCm39)	D857G	possibly damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Igsf8	A	G	1: 172,146,265 (GRCm39)	E421G	probably benign	Het
Kif26a	T	A	12: 112,145,905 (GRCm39)		probably null	Het
Klhl26	T	C	8: 70,904,251 (GRCm39)	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,122,682 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,936,162 (GRCm39)	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,971,390 (GRCm39)	G186S	probably benign	Het
Ms4a15	G	A	19: 10,958,722 (GRCm39)		probably benign	Het
Myo5b	A	G	18: 74,787,038 (GRCm39)	E481G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,456,255 (GRCm39)	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,306,092 (GRCm39)	S335A	possibly damaging	Het
Nos1	A	T	5: 118,043,539 (GRCm39)	N605Y	probably damaging	Het
Nyx	C	A	X: 13,353,508 (GRCm39)	T454K	probably benign	Het
Or52n2	A	G	7: 104,542,478 (GRCm39)	L119P	probably damaging	Het
Or8g55	T	A	9: 39,784,698 (GRCm39)	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,571,148 (GRCm39)	F765I	probably benign	Het
Pex3	C	T	10: 13,403,532 (GRCm39)	G330R	probably damaging	Het
Pfkfb1	T	C	X: 149,417,609 (GRCm39)	Y339H	probably damaging	Het
Pias1	G	A	9: 62,794,593 (GRCm39)	Q26*	probably null	Het
Pik3cg	C	A	12: 32,254,545 (GRCm39)	V481L	possibly damaging	Het
Plcg2	C	T	8: 118,282,843 (GRCm39)	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059 (GRCm39)		probably benign	Het
Ppef2	A	T	5: 92,400,952 (GRCm39)		probably benign	Het
Pramel21	G	T	4: 143,342,726 (GRCm39)	V278F	probably benign	Het
Ptpn22	A	G	3: 103,767,771 (GRCm39)	K18E	probably damaging	Het
Pum2	C	T	12: 8,771,736 (GRCm39)	Q360*	probably null	Het
Rab10	A	C	12: 3,302,723 (GRCm39)		probably null	Het
Ranbp2	T	G	10: 58,303,254 (GRCm39)	S809A	possibly damaging	Het
Rbms2	A	G	10: 127,969,539 (GRCm39)	V348A	probably benign	Het
Rnf213	A	G	11: 119,316,838 (GRCm39)	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,333,946 (GRCm39)	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,403,428 (GRCm39)		probably benign	Het
Rplp0	A	G	5: 115,697,931 (GRCm39)	Y13C	possibly damaging	Het
Ryr1	A	G	7: 28,703,218 (GRCm39)		probably benign	Het
Sac3d1	T	C	19: 6,168,324 (GRCm39)	E98G	probably damaging	Het
Scn10a	T	A	9: 119,453,166 (GRCm39)	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,498,681 (GRCm39)	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Sf3b4	C	A	3: 96,081,017 (GRCm39)	D108E	probably damaging	Het
Shprh	T	C	10: 11,032,935 (GRCm39)	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,781,426 (GRCm39)	D458G	probably benign	Het
Strc	T	C	2: 121,210,014 (GRCm39)	D103G	probably damaging	Het
Synrg	T	C	11: 83,910,369 (GRCm39)	I923T	probably benign	Het
Tango6	G	T	8: 107,462,314 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,539 (GRCm39)	L104P	probably damaging	Het
Tat	C	T	8: 110,718,316 (GRCm39)	P67L	probably damaging	Het
Tln2	A	C	9: 67,262,479 (GRCm39)	S593A	probably benign	Het
Tmem94	A	G	11: 115,685,607 (GRCm39)		probably null	Het
Tppp3	G	A	8: 106,194,804 (GRCm39)	A109V	probably benign	Het
Trank1	T	C	9: 111,220,361 (GRCm39)	F2366S	probably benign	Het
Trpc5	T	A	X: 143,264,392 (GRCm39)	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,151,268 (GRCm39)	T451A	probably benign	Het
Ttc9	C	A	12: 81,678,423 (GRCm39)	A82E	probably damaging	Het
Ttll11	T	A	2: 35,834,886 (GRCm39)	N180I	probably damaging	Het
Ttn	T	C	2: 76,566,743 (GRCm39)	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wnt3	G	A	11: 103,703,141 (GRCm39)	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,978,325 (GRCm39)	C696F	probably damaging	Het
Zfp521	T	C	18: 13,979,927 (GRCm39)	D162G	probably damaging	Het
Zfp869	A	T	8: 70,159,054 (GRCm39)	H506Q	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
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
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'- TTGTTGGATGTCACACAGAGCCC -3'
(R):5'- GCTCTCAGAAGATTCACCTGCCAC -3'

Sequencing Primer
(F):5'- AAGCACAGGTCTTAAGTGTAGTTTTG -3'
(R):5'- GTCATTTCACTATCATGTCCCAAAG -3'

Posted On

2013-05-23