Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Afg2a'

726406

Institutional Source

Beutler Lab

Gene Symbol

Afg2a

Ensembl Gene

ENSMUSG00000027722

Gene Name

AFG2 AAA ATPase homolog A

Synonyms

2510048F20Rik, Spata5, C78064, Spaf

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37474052-37633245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37505930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 670 (P670S)

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: P669S

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

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722
AA Change: P669S

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: P670S

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

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722
AA Change: P670S

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: P670S

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

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722
AA Change: P670S

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aatk	T	C	11: 119,902,209 (GRCm39)	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,932,230 (GRCm39)	T290A	probably benign	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adgre1	A	G	17: 57,718,083 (GRCm39)	N365S	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Aebp2	A	G	6: 140,593,736 (GRCm39)	Q462R	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Art5	T	C	7: 101,746,412 (GRCm39)	E280G	probably benign	Het
Bloc1s3	A	G	7: 19,241,457 (GRCm39)	S24P	possibly damaging	Het
C2	T	A	17: 35,081,958 (GRCm39)	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,744,332 (GRCm39)	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Cd19	T	A	7: 126,010,057 (GRCm39)	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,830,384 (GRCm39)	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,493,520 (GRCm39)	V848M	probably damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cspg4b	T	C	13: 113,456,503 (GRCm39)	S850P		Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dock1	T	A	7: 134,384,141 (GRCm39)	F671I	possibly damaging	Het
Dtna	T	A	18: 23,764,454 (GRCm39)	V541D	probably damaging	Het
Eef2k	T	C	7: 120,491,170 (GRCm39)	F552S	probably damaging	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fbp1	A	C	13: 63,019,023 (GRCm39)	V175G	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Fnip1	G	T	11: 54,381,713 (GRCm39)	R288L	probably benign	Het
Ghr	G	A	15: 3,362,993 (GRCm39)	P160S	probably damaging	Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Kif19b	A	T	5: 140,455,461 (GRCm39)	T356S	probably benign	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
N4bp2	T	C	5: 65,963,879 (GRCm39)	S643P	probably benign	Het
Nbl1	T	A	4: 138,812,608 (GRCm39)	T75S	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nqo2	T	A	13: 34,156,361 (GRCm39)	V25E	possibly damaging	Het
Oma1	G	T	4: 103,210,726 (GRCm39)	V411L	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or5v1	T	A	17: 37,810,331 (GRCm39)	I263N	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Plec	A	T	15: 76,065,213 (GRCm39)	L1619Q	unknown	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Pphln1-ps1	A	G	16: 13,495,087 (GRCm39)	D62G	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,359,360 (GRCm39)	M136L	probably benign	Het
Ptprn2	T	C	12: 117,125,278 (GRCm39)	L604P	probably benign	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056 (GRCm39)	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Sox30	A	G	11: 45,875,640 (GRCm39)	N464S	possibly damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,881,105 (GRCm39)	D135G	probably damaging	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Syt11	T	A	3: 88,669,325 (GRCm39)	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Trpc4	C	A	3: 54,225,550 (GRCm39)	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,784,516 (GRCm39)	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Xirp1	A	T	9: 119,847,274 (GRCm39)	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly 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
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
Z1176:Afg2a	UTSW	3	37,485,899 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GCTTCATTTGTCCTTTAAAGGCAAG -3'
(R):5'- TAAGCTGGGTATTTGCACCAAC -3'

Sequencing Primer
(F):5'- CCTTTAAAGGCAAGTTACAATTAACG -3'
(R):5'- GCTGGGTATTTGCACCAACTTATTTC -3'

Posted On

2022-10-06