Mutagenetix > Incidental Mutation

Incidental Mutation 'R5457:Afg3l1'

432824

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

1700047G05Rik, 3110061K15Rik

MMRRC Submission

043020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124204642-124230655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124216707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 315 (F315L)

Ref Sequence

ENSEMBL: ENSMUSP00000095924 (fasta)

Gene Model

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

AlphaFold

Q920A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001520
AA Change: F315L

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: F315L

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

possibly damaging
Transcript: ENSMUST00000098320
AA Change: F315L

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: F315L

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: ENSMUST00000150872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152469

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	A	8: 87,236,473 (GRCm39)	V1114L	probably benign	Het
Actr5	G	A	2: 158,477,918 (GRCm39)		probably null	Het
Adcy7	T	C	8: 89,037,649 (GRCm39)	L239P	probably damaging	Het
Agps	A	G	2: 75,684,596 (GRCm39)	Y188C	probably benign	Het
Akt1	T	C	12: 112,623,525 (GRCm39)	T312A	probably damaging	Het
Ang2	T	C	14: 51,433,292 (GRCm39)	Y30C	probably damaging	Het
Angpt1	G	A	15: 42,386,916 (GRCm39)	T146I	probably damaging	Het
Atg16l1	T	C	1: 87,702,813 (GRCm39)	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,493,558 (GRCm39)	G4R	probably damaging	Het
Best3	T	C	10: 116,840,416 (GRCm39)	F282S	probably damaging	Het
Cdkn2b	A	G	4: 89,225,391 (GRCm39)	L98P	probably damaging	Het
Cenps	A	G	4: 149,216,094 (GRCm39)		probably null	Het
Clec16a	G	T	16: 10,363,396 (GRCm39)		probably null	Het
Cxcl13	A	T	5: 96,104,830 (GRCm39)	M1L	unknown	Het
Dcun1d4	A	T	5: 73,688,908 (GRCm39)	E149D	probably damaging	Het
Dlst	G	A	12: 85,168,914 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,501,781 (GRCm39)	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,339,539 (GRCm39)	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,115 (GRCm39)	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057 (GRCm39)	G213D	probably damaging	Homo
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,328,362 (GRCm39)	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,739,726 (GRCm39)	T59A	probably damaging	Het
Fgd4	T	C	16: 16,279,873 (GRCm39)	R395G	probably benign	Het
Gm14496	A	T	2: 181,639,401 (GRCm39)	D497V	probably damaging	Het
Gpt2	A	C	8: 86,238,967 (GRCm39)	N267H	possibly damaging	Het
Grb14	A	T	2: 64,747,442 (GRCm39)	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,194,247 (GRCm39)		probably null	Het
Igkv8-16	A	G	6: 70,363,689 (GRCm39)	V111A	possibly damaging	Het
Klra2	T	A	6: 131,198,852 (GRCm39)	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,008,302 (GRCm39)	R245H	probably damaging	Het
Lamc3	A	G	2: 31,821,997 (GRCm39)	E1315G	probably benign	Het
Lpin2	A	G	17: 71,550,367 (GRCm39)	T672A	probably damaging	Het
Mcoln3	T	A	3: 145,833,877 (GRCm39)	I139N	probably benign	Het
Mcpt8	C	T	14: 56,319,793 (GRCm39)	C219Y	probably benign	Het
Mtcl3	A	C	10: 29,072,720 (GRCm39)	I671L	probably benign	Het
Mug2	G	T	6: 122,026,688 (GRCm39)	G541*	probably null	Het
Myo7b	G	T	18: 32,104,503 (GRCm39)		probably null	Het
Or10j2	C	T	1: 173,098,141 (GRCm39)	S133L	probably benign	Het
Or10j7	A	G	1: 173,011,180 (GRCm39)	S274P	probably damaging	Het
Or5ac22	T	C	16: 59,135,213 (GRCm39)	I186V	probably benign	Het
Or5k8	A	T	16: 58,644,796 (GRCm39)	I92N	probably damaging	Het
Or7e176	A	T	9: 20,171,574 (GRCm39)	Y146F	probably damaging	Het
Pclo	C	T	5: 14,726,157 (GRCm39)		probably benign	Het
Pdk2	C	T	11: 94,919,408 (GRCm39)	S289N	probably damaging	Het
Pex19	G	T	1: 171,958,245 (GRCm39)	G75W	probably damaging	Het
Psma3	T	G	12: 71,031,339 (GRCm39)	S26A	probably benign	Het
Pth1r	A	T	9: 110,555,522 (GRCm39)	I326N	possibly damaging	Het
Sbf2	T	C	7: 109,912,037 (GRCm39)	T1670A	probably benign	Het
Scn10a	A	G	9: 119,523,193 (GRCm39)	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,330,280 (GRCm39)	D578E	probably benign	Het
Spta1	C	T	1: 174,044,759 (GRCm39)	A1465V	probably damaging	Het
Taar9	A	G	10: 23,985,003 (GRCm39)	F144L	probably damaging	Het
Tal1	T	C	4: 114,925,777 (GRCm39)	V282A	probably benign	Het
Tbrg4	C	T	11: 6,570,947 (GRCm39)	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,861,005 (GRCm39)	Q215*	probably null	Het
Thsd4	A	T	9: 59,887,060 (GRCm39)	W921R	probably damaging	Het
Trrap	A	G	5: 144,786,787 (GRCm39)	E3462G	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	T	C	2: 76,541,265 (GRCm39)	E25580G	probably damaging	Het
Ttn	A	T	2: 76,776,299 (GRCm39)	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 9,781,873 (GRCm39)	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,138,169 (GRCm39)	D106G	probably benign	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
R3732:Afg3l1	UTSW	8	124,227,972 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTGGTCCTGGTTAGCATCC -3'
(R):5'- ACCGGCCATTTTACTGGAGG -3'

Sequencing Primer
(F):5'- CCTCCTATATGCTATGAGGAGGG -3'
(R):5'- GAGGGGCTATTTCTGTCCTCC -3'

Posted On

2016-10-06