Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Afg3l1'

380643

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

1700047G05Rik, 3110061K15Rik

Accession Numbers

Essential gene?

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

Stock #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124204642-124230655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124228119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 635 (T635S)

Ref Sequence

ENSEMBL: ENSMUSP00000001520 (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: T635S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: T635S

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,342 (GRCm39)	V616E	possibly damaging	Het
Adam21	A	G	12: 81,605,692 (GRCm39)	V690A	probably benign	Het
Ahcyl2	T	A	6: 29,890,700 (GRCm39)	M390K	probably benign	Het
Ank3	T	A	10: 69,734,053 (GRCm39)		probably null	Het
Antkmt	T	G	17: 26,010,652 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 27,106,170 (GRCm39)	K151N	probably damaging	Het
Ccr3	T	G	9: 123,829,043 (GRCm39)	F126C	probably damaging	Het
Ccser1	A	G	6: 61,695,175 (GRCm39)	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,310,074 (GRCm39)	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,675,820 (GRCm39)	L265F	probably damaging	Het
Chrna9	C	T	5: 66,126,533 (GRCm39)	R92*	probably null	Het
Cog3	A	T	14: 75,970,394 (GRCm39)	V341D	probably damaging	Het
Csmd1	C	A	8: 16,073,779 (GRCm39)	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,448,039 (GRCm39)	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,579,078 (GRCm39)	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,297,110 (GRCm39)	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,069,603 (GRCm39)	W643R	probably damaging	Het
Dip2c	A	G	13: 9,674,008 (GRCm39)	K1091E	probably damaging	Het
Dis3	T	A	14: 99,326,340 (GRCm39)	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,542,737 (GRCm39)	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Doc2a	T	C	7: 126,447,752 (GRCm39)		probably benign	Het
Dph5	A	T	3: 115,693,456 (GRCm39)	M125L	probably benign	Het
Dst	A	T	1: 34,267,764 (GRCm39)	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,952,889 (GRCm39)	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,636,711 (GRCm39)	I207V	possibly damaging	Het
Fat4	T	A	3: 39,061,352 (GRCm39)	S4312T	probably benign	Het
Fgfr2	T	C	7: 129,843,007 (GRCm39)	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,315,983 (GRCm39)	T799A	unknown	Het
Gcn1	A	T	5: 115,730,203 (GRCm39)	D839V	probably benign	Het
Gprin3	A	G	6: 59,331,158 (GRCm39)	V383A	probably benign	Het
Gpt	T	C	15: 76,583,040 (GRCm39)	V361A	probably benign	Het
Hepacam	G	A	9: 37,293,060 (GRCm39)	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,660,151 (GRCm39)	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,879,462 (GRCm39)	N30K	probably benign	Het
Jhy	A	T	9: 40,872,299 (GRCm39)	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,529,174 (GRCm39)	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,501,447 (GRCm39)	Q171*	probably null	Het
Mcm8	G	A	2: 132,680,629 (GRCm39)	M544I	probably benign	Het
Mdga1	C	T	17: 30,076,580 (GRCm39)	G64E	probably damaging	Het
Mmp3	A	G	9: 7,446,994 (GRCm39)	D58G	probably benign	Het
Ms4a10	T	C	19: 10,942,132 (GRCm39)	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,535,296 (GRCm39)	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,930,241 (GRCm39)	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,566,606 (GRCm39)	S567R	probably benign	Het
Ndufaf2	A	G	13: 108,295,010 (GRCm39)	Y32H	probably damaging	Het
Nup153	T	A	13: 46,866,213 (GRCm39)	K182*	probably null	Het
Or4c100	A	G	2: 88,356,079 (GRCm39)	T51A	probably benign	Het
Or52p2	A	G	7: 102,237,623 (GRCm39)	F109S	probably damaging	Het
Or5p4	T	A	7: 107,680,781 (GRCm39)	V260E	probably damaging	Het
Otoa	T	C	7: 120,754,358 (GRCm39)	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,216,496 (GRCm39)	D295G	probably benign	Het
P4ha2	C	A	11: 54,015,846 (GRCm39)	T411K	probably benign	Het
Plcg2	A	T	8: 118,333,822 (GRCm39)	Q865L	probably benign	Het
Prepl	G	T	17: 85,385,932 (GRCm39)	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,388,103 (GRCm39)	K776*	probably null	Het
Rc3h2	T	C	2: 37,279,844 (GRCm39)	K462E	possibly damaging	Het
Scn10a	A	G	9: 119,516,940 (GRCm39)		probably null	Het
Serpinb1c	A	G	13: 33,066,147 (GRCm39)	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,433,861 (GRCm39)	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,508,038 (GRCm39)	G16D	possibly damaging	Het
Spns3	T	C	11: 72,390,321 (GRCm39)	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,618,556 (GRCm39)	D49G	probably damaging	Het
Tec	A	T	5: 72,917,736 (GRCm39)	C494*	probably null	Het
Tecpr1	A	T	5: 144,141,476 (GRCm39)	Y798N	probably damaging	Het
Tex56	A	T	13: 35,116,613 (GRCm39)	T121S	possibly damaging	Het
Tmt1a	T	A	15: 100,202,987 (GRCm39)	F87Y	probably benign	Het
Trim56	C	T	5: 137,143,343 (GRCm39)	E58K	probably damaging	Het
Ttn	A	T	2: 76,626,478 (GRCm39)	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,686,790 (GRCm39)	K46*	probably null	Het
Ucn	G	T	5: 31,295,842 (GRCm39)	T8K	probably benign	Het
Usp25	T	C	16: 76,830,870 (GRCm39)		probably null	Het
Usp48	A	T	4: 137,343,144 (GRCm39)	Q430L	probably benign	Het
Usp48	A	T	4: 137,343,145 (GRCm39)		probably null	Het
Vill	A	T	9: 118,890,579 (GRCm39)	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,356,751 (GRCm39)	M806K	possibly damaging	Het
Wdfy4	T	A	14: 32,750,970 (GRCm39)	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,141,826 (GRCm39)	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,552,350 (GRCm39)	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,729,014 (GRCm39)	D126G	probably damaging	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,251,635 (GRCm39)	H89L	possibly damaging	Het
Zfp82	T	A	7: 29,756,312 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	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
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'- GGCTCACAAAATCTAGGCTTTG -3'
(R):5'- AGTCAAAGGACACCTGGCC -3'

Sequencing Primer
(F):5'- TGGTTGTAAGCCACCCAATG -3'
(R):5'- ACACCTGGCCCAGCTTC -3'

Posted On

2016-04-15