Mutagenetix > Incidental Mutation

Incidental Mutation 'R5538:Lonrf1'

434934

Institutional Source

Beutler Lab

Gene Symbol

Lonrf1

Ensembl Gene

ENSMUSG00000039633

Gene Name

LON peptidase N-terminal domain and ring finger 1

Synonyms

MMRRC Submission

043096-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R5538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36683216-36716513 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 36690178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066403 (fasta)

Gene Model

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

AlphaFold

D3YY23

Predicted Effect

probably null
Transcript: ENSMUST00000065297

SMART Domains

Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633

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

0.9490

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (73/78)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,581,808 (GRCm39)	R4745S	probably benign	Het
Ank3	A	G	10: 69,823,257 (GRCm39)	E642G	probably damaging	Het
Arhgap11a	G	T	2: 113,667,875 (GRCm39)	D375E	probably benign	Het
Arl8b	C	A	6: 108,760,297 (GRCm39)	L28M	probably damaging	Het
Bbs2	G	A	8: 94,816,391 (GRCm39)	T157M	probably damaging	Het
C2cd3	T	A	7: 100,104,700 (GRCm39)		probably null	Het
C6	T	A	15: 4,844,311 (GRCm39)	I911N	possibly damaging	Het
Cc2d2a	T	C	5: 43,852,518 (GRCm39)	I365T	possibly damaging	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Ceacam3	A	T	7: 16,892,346 (GRCm39)	D363V	probably damaging	Het
Cep63	A	T	9: 102,465,992 (GRCm39)	L678*	probably null	Het
Clasrp	A	C	7: 19,318,707 (GRCm39)		probably benign	Het
Clk2	T	A	3: 89,082,962 (GRCm39)	Y412N	probably damaging	Het
Col24a1	C	T	3: 144,998,882 (GRCm39)	A5V	probably damaging	Het
Cox16	T	C	12: 81,531,703 (GRCm39)	N13D	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx32	A	T	7: 133,324,946 (GRCm39)	M437K	probably benign	Het
Dnm2	T	C	9: 21,416,923 (GRCm39)	F819L	probably benign	Het
Dpysl4	A	G	7: 138,671,906 (GRCm39)	T85A	probably benign	Het
Dspp	A	T	5: 104,323,096 (GRCm39)	K80*	probably null	Het
Dync2h1	T	C	9: 7,168,630 (GRCm39)		probably benign	Het
Ern1	A	G	11: 106,312,727 (GRCm39)	V218A	possibly damaging	Het
Fbn2	G	A	18: 58,204,973 (GRCm39)	R1157C	probably benign	Het
Fez1	T	A	9: 36,780,172 (GRCm39)	I323N	probably damaging	Het
Fmo9	T	A	1: 166,501,198 (GRCm39)	T199S	probably benign	Het
Fry	T	A	5: 150,419,313 (GRCm39)	L915Q	probably damaging	Het
Gatd1	A	G	7: 140,986,758 (GRCm39)		probably benign	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gnpda2	A	T	5: 69,735,394 (GRCm39)	H230Q	probably damaging	Het
Gramd1c	T	A	16: 43,802,455 (GRCm39)	N652I	probably damaging	Het
H2-T13	T	A	17: 36,392,178 (GRCm39)	H178L	probably benign	Het
Hells	T	A	19: 38,942,096 (GRCm39)	F462Y	probably benign	Het
Htr7	A	G	19: 35,947,235 (GRCm39)	F260L	probably benign	Het
Itsn1	C	A	16: 91,580,990 (GRCm39)	A23D	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Kctd16	T	A	18: 40,390,319 (GRCm39)	Y97*	probably null	Het
Kif20b	A	T	19: 34,930,364 (GRCm39)	K25*	probably null	Het
Klf2	T	C	8: 73,073,316 (GRCm39)	L40P	probably damaging	Het
Kmt2a	A	G	9: 44,731,639 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,587,486 (GRCm39)	I154K	unknown	Het
Mybpc1	T	A	10: 88,381,891 (GRCm39)	I600L	possibly damaging	Het
Npnt	T	C	3: 132,610,724 (GRCm39)	N285S	probably damaging	Het
Or4c12b	T	A	2: 89,646,964 (GRCm39)	F92Y	probably damaging	Het
Or51h5	A	G	7: 102,577,728 (GRCm39)	T298A	probably damaging	Het
Or6c69	T	A	10: 129,747,871 (GRCm39)	Y92F	probably benign	Het
Or6n1	T	C	1: 173,917,544 (GRCm39)	*313R	probably null	Het
Pcnx1	T	C	12: 81,907,183 (GRCm39)	V13A	probably damaging	Het
Phkb	G	A	8: 86,648,756 (GRCm39)	V191I	possibly damaging	Het
Pnpla6	A	G	8: 3,581,508 (GRCm39)	M594V	probably benign	Het
Potefam3e	A	C	8: 19,799,430 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,469,333 (GRCm39)	E146G	probably damaging	Het
Ror1	T	C	4: 100,298,208 (GRCm39)	M527T	probably benign	Het
Scnm1	A	G	3: 95,037,066 (GRCm39)		probably benign	Het
Skint11	A	T	4: 114,088,959 (GRCm39)	N251I	probably damaging	Het
Slc19a3	T	A	1: 83,000,282 (GRCm39)	N245I	possibly damaging	Het
Slc1a3	A	T	15: 8,675,188 (GRCm39)	D272E	probably damaging	Het
Smok2b	T	A	17: 13,454,440 (GRCm39)	V200D	possibly damaging	Het
Sspo	T	C	6: 48,429,112 (GRCm39)	Y417H	probably damaging	Het
Stk11ip	C	A	1: 75,504,979 (GRCm39)	S388R	probably damaging	Het
Svep1	T	C	4: 58,049,282 (GRCm39)		probably null	Het
Sytl2	A	G	7: 90,038,114 (GRCm39)	I525V	probably benign	Het
Tie1	T	C	4: 118,343,390 (GRCm39)	N158D	probably benign	Het
Tle2	T	C	10: 81,416,418 (GRCm39)	L180P	probably damaging	Het
Txlnb	T	C	10: 17,714,657 (GRCm39)	L363P	probably damaging	Het
Upk3b	C	G	5: 136,072,890 (GRCm39)	A258G	probably benign	Het
Usp32	A	T	11: 84,908,612 (GRCm39)	D1031E	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,041 (GRCm39)	L592F	probably benign	Het
Zfp607b	A	G	7: 27,402,294 (GRCm39)	H250R	probably damaging	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
R1489:Lonrf1	UTSW	8	36,690,108 (GRCm39)	missense	probably damaging	1.00
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
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'- CAAACGCAGATGCCGAAGTTC -3'
(R):5'- GGAGATGCTTCCTGTTCTAGTCAG -3'

Sequencing Primer
(F):5'- AAGTTCGCGGGGAGCCTAC -3'
(R):5'- CTGTTCTAGTCAGGAGCCAG -3'

Posted On

2016-10-24