Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Afg3l1'

356387

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

1700047G05Rik, 3110061K15Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124204642-124230655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124227972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 547 (G547D)

Ref Sequence

ENSEMBL: ENSMUSP00000095924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664] [ENSMUST00000176155] [ENSMUST00000176286] [ENSMUST00000177240]

AlphaFold

Q920A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000001520
AA Change: V586M

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

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: V586M

Domain	Start	End	E-Value	Type
low complexity region	79	88	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
Pfam:FtsH_ext	141	235	1.2e-8	PFAM
low complexity region	265	279	N/A	INTRINSIC
AAA	332	471	3.67e-24	SMART
Pfam:Peptidase_M41	533	736	6.1e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098320
AA Change: G547D

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

SMART Domains

Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: G547D

Domain	Start	End	E-Value	Type
low complexity region	79	88	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
Pfam:FtsH_ext	141	235	6.5e-9	PFAM
low complexity region	265	279	N/A	INTRINSIC
AAA	332	471	3.67e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152469

Predicted Effect

probably benign
Transcript: ENSMUST00000176155

SMART Domains

Protein: ENSMUSP00000135524
Gene: ENSMUSG00000031970

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
Pfam:Dysbindin	44	189	3.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176286

SMART Domains

Protein: ENSMUSP00000134757
Gene: ENSMUSG00000031970

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
Pfam:Dysbindin	44	96	3.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177240

SMART Domains

Protein: ENSMUSP00000135216
Gene: ENSMUSG00000031970

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
Pfam:Dysbindin	44	101	4.5e-10	PFAM
Pfam:Dysbindin	96	142	2.7e-14	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable myelination defects or axonal degeneration in the brain and spinal cord and normal mitochondria in the spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Chrna3	T	C	9: 54,923,178 (GRCm39)	K210R	probably benign	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,503,379 (GRCm39)	R424Q	probably null	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Ddx4	T	A	13: 112,748,516 (GRCm39)	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam111a	T	C	19: 12,564,914 (GRCm39)	L221P	possibly damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,833,014 (GRCm39)	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	probably damaging	Het

Other mutations in Afg3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Afg3l1	APN	8	124,214,128 (GRCm39)	missense	probably benign	0.01
IGL01547:Afg3l1	APN	8	124,228,090 (GRCm39)	missense	probably benign	0.17
IGL01612:Afg3l1	APN	8	124,221,592 (GRCm39)	missense	probably benign	0.01
IGL01616:Afg3l1	APN	8	124,228,746 (GRCm39)	missense	probably damaging	1.00
IGL01969:Afg3l1	APN	8	124,207,170 (GRCm39)	missense	probably damaging	1.00
IGL01996:Afg3l1	APN	8	124,228,633 (GRCm39)	missense	probably damaging	0.99
IGL02591:Afg3l1	APN	8	124,212,748 (GRCm39)	missense	probably damaging	1.00
R0370:Afg3l1	UTSW	8	124,228,293 (GRCm39)	missense	probably damaging	1.00
R1775:Afg3l1	UTSW	8	124,219,639 (GRCm39)	missense	possibly damaging	0.89
R1817:Afg3l1	UTSW	8	124,228,670 (GRCm39)	missense	probably damaging	0.99
R2152:Afg3l1	UTSW	8	124,221,575 (GRCm39)	missense	probably damaging	1.00
R2516:Afg3l1	UTSW	8	124,228,693 (GRCm39)	missense	probably damaging	0.99
R2844:Afg3l1	UTSW	8	124,221,678 (GRCm39)	intron	probably benign
R3013:Afg3l1	UTSW	8	124,211,416 (GRCm39)	missense	probably benign	0.27
R4565:Afg3l1	UTSW	8	124,228,608 (GRCm39)	nonsense	probably null
R4603:Afg3l1	UTSW	8	124,228,674 (GRCm39)	missense	probably benign	0.43
R4888:Afg3l1	UTSW	8	124,215,065 (GRCm39)	critical splice donor site	probably null
R4932:Afg3l1	UTSW	8	124,228,119 (GRCm39)	missense	probably damaging	1.00
R4970:Afg3l1	UTSW	8	124,225,392 (GRCm39)	missense	probably benign	0.04
R5027:Afg3l1	UTSW	8	124,216,553 (GRCm39)	missense	probably benign	0.00
R5133:Afg3l1	UTSW	8	124,216,532 (GRCm39)	missense	probably benign	0.16
R5457:Afg3l1	UTSW	8	124,216,707 (GRCm39)	missense	possibly damaging	0.88
R5911:Afg3l1	UTSW	8	124,226,778 (GRCm39)	missense	possibly damaging	0.79
R6268:Afg3l1	UTSW	8	124,219,665 (GRCm39)	missense	probably damaging	1.00
R7116:Afg3l1	UTSW	8	124,216,601 (GRCm39)	missense	probably damaging	0.98
R7303:Afg3l1	UTSW	8	124,228,008 (GRCm39)	missense	probably damaging	1.00
R7646:Afg3l1	UTSW	8	124,219,766 (GRCm39)	missense	possibly damaging	0.85
R7945:Afg3l1	UTSW	8	124,216,661 (GRCm39)	missense	probably benign	0.01
R8466:Afg3l1	UTSW	8	124,216,648 (GRCm39)	missense	probably benign	0.31
R8694:Afg3l1	UTSW	8	124,227,973 (GRCm39)	missense	probably damaging	1.00
R8806:Afg3l1	UTSW	8	124,220,657 (GRCm39)	missense	probably damaging	1.00
Z1088:Afg3l1	UTSW	8	124,214,981 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGGCTCACAAAATCTAGGCTTTG -3'
(R):5'- TAAGTGGTGTCCAAGGCAGC -3'

Sequencing Primer
(F):5'- AAGCCGAAGCCAGTGTTCTTC -3'
(R):5'- AGAGGGACACTGCTCCTCAC -3'

Posted On

2015-11-11