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

3110061K15Rik, 1700047G05Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123477903-123503916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123501233 bp (GRCm38)

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
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	Het

Other mutations in Afg3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Afg3l1	APN	8	123487389	missense	probably benign	0.01
IGL01547:Afg3l1	APN	8	123501351	missense	probably benign	0.17
IGL01612:Afg3l1	APN	8	123494853	missense	probably benign	0.01
IGL01616:Afg3l1	APN	8	123502007	missense	probably damaging	1.00
IGL01969:Afg3l1	APN	8	123480431	missense	probably damaging	1.00
IGL01996:Afg3l1	APN	8	123501894	missense	probably damaging	0.99
IGL02591:Afg3l1	APN	8	123486009	missense	probably damaging	1.00
R0370:Afg3l1	UTSW	8	123501554	missense	probably damaging	1.00
R1775:Afg3l1	UTSW	8	123492900	missense	possibly damaging	0.89
R1817:Afg3l1	UTSW	8	123501931	missense	probably damaging	0.99
R2152:Afg3l1	UTSW	8	123494836	missense	probably damaging	1.00
R2516:Afg3l1	UTSW	8	123501954	missense	probably damaging	0.99
R2844:Afg3l1	UTSW	8	123494939	intron	probably benign
R3013:Afg3l1	UTSW	8	123484677	missense	probably benign	0.27
R4565:Afg3l1	UTSW	8	123501869	nonsense	probably null
R4603:Afg3l1	UTSW	8	123501935	missense	probably benign	0.43
R4888:Afg3l1	UTSW	8	123488326	critical splice donor site	probably null
R4932:Afg3l1	UTSW	8	123501380	missense	probably damaging	1.00
R4970:Afg3l1	UTSW	8	123498653	missense	probably benign	0.04
R5027:Afg3l1	UTSW	8	123489814	missense	probably benign	0.00
R5133:Afg3l1	UTSW	8	123489793	missense	probably benign	0.16
R5457:Afg3l1	UTSW	8	123489968	missense	possibly damaging	0.88
R5911:Afg3l1	UTSW	8	123500039	missense	possibly damaging	0.79
R6268:Afg3l1	UTSW	8	123492926	missense	probably damaging	1.00
R7116:Afg3l1	UTSW	8	123489862	missense	probably damaging	0.98
R7303:Afg3l1	UTSW	8	123501269	missense	probably damaging	1.00
R7646:Afg3l1	UTSW	8	123493027	missense	possibly damaging	0.85
R7945:Afg3l1	UTSW	8	123489922	missense	probably benign	0.01
R8466:Afg3l1	UTSW	8	123489909	missense	probably benign	0.31
R8694:Afg3l1	UTSW	8	123501234	missense	probably damaging	1.00
R8806:Afg3l1	UTSW	8	123493918	missense	probably damaging	1.00
Z1088:Afg3l1	UTSW	8	123488242	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