Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01547:Afg3l1'

90367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

3110061K15Rik, 1700047G05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

123477903-123503916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123501351 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 625 (V625A)

Ref Sequence

ENSEMBL: ENSMUSP00000001520 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000001520
AA Change: V625A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: V625A

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 benign
Transcript: ENSMUST00000098320

SMART Domains

Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967

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

Coding Region Coverage

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,455,262	G243R	possibly damaging	Het
Arhgap39	T	C	15: 76,737,815		probably benign	Het
Bag1	A	G	4: 40,936,661	C332R	probably damaging	Het
Bcas2	T	C	3: 103,171,999	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,632,035		probably benign	Het
Cdyl	A	G	13: 35,790,162	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,883,617	I1322V	probably benign	Het
Evc2	C	A	5: 37,393,087	A815E	probably benign	Het
Gm6309	C	T	5: 146,168,411	D231N	probably benign	Het
Mtfr2	C	T	10: 20,357,599	P305S	probably damaging	Het
Olfr301	A	G	7: 86,412,871	N170D	possibly damaging	Het
Olfr639	A	T	7: 104,012,660	I14N	probably benign	Het
Olfr77	A	T	9: 19,920,901	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,267,342	H782R	probably benign	Het
Polr2a	A	G	11: 69,744,942	S480P	probably damaging	Het
Scaf11	T	C	15: 96,418,429	T1085A	probably benign	Het
Sema6c	C	T	3: 95,172,398	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,847,458	T106I	probably damaging	Het
Tgm5	A	G	2: 121,049,202		probably benign	Het
Vmn2r23	T	A	6: 123,704,424	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,538,104	K644N	probably damaging	Het
Zfp608	A	G	18: 54,894,449		probably null	Het

Other mutations in Afg3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Afg3l1	APN	8	123487389	missense	probably benign	0.01
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
R3732:Afg3l1	UTSW	8	123501233	missense	probably damaging	1.00
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
Z1088:Afg3l1	UTSW	8	123488242	missense	possibly damaging	0.67

Posted On

2013-12-03