Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Afg3l1'

461003

Institutional Source

Beutler Lab

Gene Symbol

Afg3l1

Ensembl Gene

ENSMUSG00000031967

Gene Name

AFG3-like AAA ATPase 1

Synonyms

1700047G05Rik, 3110061K15Rik

MMRRC Submission

044108-MU

Accession Numbers

Essential gene?

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

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124204642-124230655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124226778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 563 (V563I)

Ref Sequence

ENSEMBL: ENSMUSP00000001520 (fasta)

Gene Model

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

AlphaFold

Q920A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001520
AA Change: V563I

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: V563I

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: 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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Grik4	C	A	9: 42,502,720 (GRCm39)	V468F	probably damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Gulp1	A	T	1: 44,793,534 (GRCm39)	Q65L	possibly damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Hnrnpu	T	C	1: 178,157,737 (GRCm39)		probably benign	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc39a	C	T	4: 109,280,168 (GRCm39)	P150L	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
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'- TCACGCCCGAGTAGAGTAGAAC -3'
(R):5'- TATCCATGAGTGTGCTGTACCC -3'

Sequencing Primer
(F):5'- AGGGAAGCCTGTCTGACAC -3'
(R):5'- CATGAGTGTGCTGTACCCACATG -3'

Posted On

2017-02-28