Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Afg3l1'

507161

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

1700047G05Rik, 3110061K15Rik

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

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

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124204642-124230655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124219665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 398 (I398F)

Ref Sequence

ENSEMBL: ENSMUSP00000095924 (fasta)

Gene Model

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

AlphaFold

Q920A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000001520
AA Change: I398F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: I398F

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: I398F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: I398F

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly 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
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
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
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'- TAGGCTTTGTGTGGGACAACC -3'
(R):5'- AACTCTGACTGCTTGCTCATATTTG -3'

Sequencing Primer
(F):5'- CCCAAGTGCTTCCATCGGAG -3'
(R):5'- TGTACTCCCAGCACTGAGATG -3'

Posted On

2018-03-15