Mutagenetix > Incidental Mutation

Incidental Mutation 'R1489:Lonrf1'

163604

Institutional Source

Beutler Lab

Gene Symbol

Lonrf1

Ensembl Gene

ENSMUSG00000039633

Gene Name

LON peptidase N-terminal domain and ring finger 1

Synonyms

MMRRC Submission

039541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36683216-36716513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36690108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 650 (V650A)

Ref Sequence

ENSEMBL: ENSMUSP00000066403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065297]

AlphaFold

D3YY23

Predicted Effect

probably damaging
Transcript: ENSMUST00000065297
AA Change: V650A

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

SMART Domains

Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: V650A

Domain	Start	End	E-Value	Type
low complexity region	8	38	N/A	INTRINSIC
low complexity region	54	68	N/A	INTRINSIC
low complexity region	106	161	N/A	INTRINSIC
RING	193	228	1.57e-2	SMART
SCOP:d1elwa_	274	387	3e-16	SMART
Blast:TPR	309	342	1e-14	BLAST
Blast:TPR	343	376	2e-15	BLAST
low complexity region	454	464	N/A	INTRINSIC
RING	543	580	3.12e-6	SMART
Pfam:LON_substr_bdg	631	830	8e-30	PFAM

Meta Mutation Damage Score

0.7026

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,106,295 (GRCm39)	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,362,654 (GRCm39)	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,736,300 (GRCm39)		probably null	Het
Adam39	A	G	8: 41,278,031 (GRCm39)	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,455,071 (GRCm39)	S629R	probably benign	Het
Ap3b2	C	A	7: 81,113,438 (GRCm39)	E924*	probably null	Het
Armc3	A	T	2: 19,314,858 (GRCm39)	Y856F	probably benign	Het
Asap1	A	G	15: 64,044,579 (GRCm39)	L142P	probably damaging	Het
Atg9a	T	A	1: 75,162,734 (GRCm39)	D427V	probably damaging	Het
Atl2	G	A	17: 80,160,135 (GRCm39)	A17V	probably benign	Het
Atxn2l	A	T	7: 126,095,639 (GRCm39)	S379T	probably damaging	Het
C1ql3	G	T	2: 13,015,453 (GRCm39)	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,763,111 (GRCm39)	I114F	probably damaging	Het
Ccdc168	A	G	1: 44,096,950 (GRCm39)	F1383L	probably benign	Het
Ccdc168	T	C	1: 44,100,667 (GRCm39)	I144V	probably benign	Het
Cox16	T	C	12: 81,521,389 (GRCm39)	N135S	probably null	Het
Dnajc13	A	T	9: 104,108,234 (GRCm39)	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,424,835 (GRCm39)	Y73*	probably null	Het
Duox2	T	A	2: 122,123,877 (GRCm39)	M436L	probably benign	Het
Exoc6	T	A	19: 37,585,568 (GRCm39)	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,702,829 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,195,557 (GRCm39)	V419E	unknown	Het
Fndc4	T	C	5: 31,450,795 (GRCm39)	*232W	probably null	Het
Foxc1	C	T	13: 31,992,595 (GRCm39)	R469*	probably null	Het
Fsip2	A	G	2: 82,810,155 (GRCm39)	H2158R	probably benign	Het
Ghdc	C	T	11: 100,659,083 (GRCm39)	G373D	probably benign	Het
Gm10330	A	T	12: 23,830,032 (GRCm39)	S50T	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Map1a	T	C	2: 121,130,918 (GRCm39)	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,229,740 (GRCm39)	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,264,976 (GRCm39)	K175R	probably benign	Het
Mia3	A	G	1: 183,120,121 (GRCm39)	S85P	probably benign	Het
Myrip	T	C	9: 120,261,595 (GRCm39)	F403L	probably damaging	Het
Nox4	A	G	7: 86,954,097 (GRCm39)	Y134C	probably damaging	Het
Numb	A	G	12: 83,842,217 (GRCm39)	L642P	probably damaging	Het
Pappa	A	T	4: 65,099,185 (GRCm39)	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,575,593 (GRCm39)	L333P	probably benign	Het
Prl	A	T	13: 27,241,619 (GRCm39)	S3C	probably damaging	Het
Ptprc	T	C	1: 138,047,824 (GRCm39)	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Smpd1	T	C	7: 105,205,761 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,058,891 (GRCm39)	E1942G	probably damaging	Het
Tmem38a	A	G	8: 73,333,479 (GRCm39)	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,510,524 (GRCm39)	Y232*	probably null	Het
Tpte	T	C	8: 22,839,405 (GRCm39)		probably null	Het
Virma	T	C	4: 11,521,164 (GRCm39)	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,453,981 (GRCm39)	Q216*	probably null	Het
Zswim3	T	C	2: 164,661,901 (GRCm39)	V127A	probably benign	Het

Other mutations in Lonrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Lonrf1	APN	8	36,697,231 (GRCm39)	splice site	probably benign
IGL02195:Lonrf1	APN	8	36,687,102 (GRCm39)	nonsense	probably null
IGL03087:Lonrf1	APN	8	36,692,705 (GRCm39)	splice site	probably null
IGL03163:Lonrf1	APN	8	36,697,484 (GRCm39)	missense	probably benign	0.03
IGL03225:Lonrf1	APN	8	36,689,855 (GRCm39)	missense	probably damaging	0.96
BB009:Lonrf1	UTSW	8	36,690,070 (GRCm39)	missense	probably benign	0.17
BB019:Lonrf1	UTSW	8	36,690,070 (GRCm39)	missense	probably benign	0.17
R0480:Lonrf1	UTSW	8	36,689,864 (GRCm39)	missense	probably damaging	1.00
R0504:Lonrf1	UTSW	8	36,698,313 (GRCm39)	missense	possibly damaging	0.93
R0557:Lonrf1	UTSW	8	36,697,574 (GRCm39)	missense	probably benign	0.12
R1572:Lonrf1	UTSW	8	36,701,126 (GRCm39)	missense	probably benign	0.02
R2225:Lonrf1	UTSW	8	36,703,252 (GRCm39)	missense	probably damaging	0.98
R2345:Lonrf1	UTSW	8	36,690,016 (GRCm39)	critical splice donor site	probably null
R4821:Lonrf1	UTSW	8	36,687,126 (GRCm39)	missense	probably benign
R4934:Lonrf1	UTSW	8	36,701,103 (GRCm39)	missense	probably damaging	1.00
R5538:Lonrf1	UTSW	8	36,690,178 (GRCm39)	critical splice acceptor site	probably null
R6124:Lonrf1	UTSW	8	36,696,354 (GRCm39)	missense	probably damaging	0.97
R6485:Lonrf1	UTSW	8	36,696,288 (GRCm39)	critical splice donor site	probably null
R6603:Lonrf1	UTSW	8	36,690,095 (GRCm39)	missense	probably damaging	1.00
R6886:Lonrf1	UTSW	8	36,696,191 (GRCm39)	splice site	probably null
R7113:Lonrf1	UTSW	8	36,697,664 (GRCm39)	missense	probably benign	0.01
R7689:Lonrf1	UTSW	8	36,715,918 (GRCm39)	nonsense	probably null
R7711:Lonrf1	UTSW	8	36,716,375 (GRCm39)	missense	probably damaging	1.00
R7743:Lonrf1	UTSW	8	36,716,206 (GRCm39)	missense	possibly damaging	0.72
R7932:Lonrf1	UTSW	8	36,690,070 (GRCm39)	missense	probably benign	0.17
R8085:Lonrf1	UTSW	8	36,715,769 (GRCm39)	missense	probably damaging	1.00
R8183:Lonrf1	UTSW	8	36,689,819 (GRCm39)	missense	possibly damaging	0.81
R8500:Lonrf1	UTSW	8	36,698,292 (GRCm39)	missense	probably benign	0.00
R8527:Lonrf1	UTSW	8	36,686,986 (GRCm39)	missense	possibly damaging	0.90
R8993:Lonrf1	UTSW	8	36,696,392 (GRCm39)	missense	possibly damaging	0.95
R9100:Lonrf1	UTSW	8	36,715,919 (GRCm39)	small deletion	probably benign
R9464:Lonrf1	UTSW	8	36,690,024 (GRCm39)	missense	probably benign	0.01
R9479:Lonrf1	UTSW	8	36,697,668 (GRCm39)	nonsense	probably null
R9717:Lonrf1	UTSW	8	36,701,164 (GRCm39)	missense	probably damaging	1.00
R9794:Lonrf1	UTSW	8	36,703,235 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAGCCCTGCTTCAGCCCATTC -3'
(R):5'- AGGGGAGATGCTTCCTGTTCTAGTC -3'

Sequencing Primer
(F):5'- TTCGGACACAAAGGAAGCTC -3'
(R):5'- TCCTGTTCTAGTCAGGAGCCAG -3'

Posted On

2014-03-28