Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Lonrf1'

525461

Institutional Source

Beutler Lab

Gene Symbol

Lonrf1

Ensembl Gene

ENSMUSG00000039633

Gene Name

LON peptidase N-terminal domain and ring finger 1

Synonyms

MMRRC Submission

044726-MU

Accession Numbers

Essential gene?

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

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36683216-36716513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36690095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 654 (R654S)

Ref Sequence

ENSEMBL: ENSMUSP00000066403 (fasta)

Gene Model

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

AlphaFold

D3YY23

Predicted Effect

probably damaging
Transcript: ENSMUST00000065297
AA Change: R654S

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

SMART Domains

Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: R654S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,155,518 (GRCm39)	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,549,881 (GRCm39)	S755P	probably benign	Het
Aph1a	A	T	3: 95,802,808 (GRCm39)	N136I	probably damaging	Het
AU040320	T	A	4: 126,686,046 (GRCm39)	N207K	probably benign	Het
Caprin1	A	T	2: 103,605,856 (GRCm39)	D377E	probably benign	Het
Col18a1	A	G	10: 76,899,811 (GRCm39)		probably null	Het
Ddi2	T	C	4: 141,411,181 (GRCm39)	N577S	probably damaging	Het
Dip2c	T	A	13: 9,704,624 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,648,240 (GRCm39)		probably null	Het
Fam13a	T	C	6: 58,964,174 (GRCm39)	K86R	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fbxl8	A	T	8: 105,994,842 (GRCm39)	D118V	probably damaging	Het
Garin5b	G	A	7: 4,761,431 (GRCm39)	P427L	possibly damaging	Het
Git2	C	A	5: 114,869,052 (GRCm39)		probably null	Het
Gm17190	T	G	13: 96,218,770 (GRCm39)	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,639,295 (GRCm39)	D333N	probably damaging	Het
Has2	T	A	15: 56,531,968 (GRCm39)	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,728,141 (GRCm39)	S94P	probably damaging	Het
Itpr2	A	G	6: 146,248,669 (GRCm39)	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,391,544 (GRCm39)	I44T	probably benign	Het
Kpna1	A	G	16: 35,849,890 (GRCm39)		probably null	Het
Lrrc49	A	C	9: 60,501,052 (GRCm39)		probably null	Het
Miip	T	G	4: 147,950,380 (GRCm39)	K72T	possibly damaging	Het
Mink1	C	T	11: 70,500,419 (GRCm39)	P782S	probably damaging	Het
Mpped2	A	G	2: 106,697,322 (GRCm39)	T266A	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Naip1	C	T	13: 100,559,666 (GRCm39)	G1113S	probably benign	Het
Nbr1	A	G	11: 101,446,931 (GRCm39)		probably benign	Het
Necab3	A	T	2: 154,396,842 (GRCm39)	N46K	probably damaging	Het
Or51a8	A	T	7: 102,549,621 (GRCm39)	I16F	probably benign	Het
Phtf1	C	T	3: 103,901,189 (GRCm39)	R360C	probably damaging	Het
Plcl2	A	G	17: 50,914,145 (GRCm39)	I385V	probably benign	Het
Prmt8	A	T	6: 127,706,376 (GRCm39)	F138L	probably benign	Het
Prpf40a	T	G	2: 53,042,975 (GRCm39)	R436S	probably damaging	Het
Rab27b	T	A	18: 70,118,375 (GRCm39)	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,792,310 (GRCm39)	E87G	probably damaging	Het
Scrib	T	A	15: 75,934,572 (GRCm39)	T674S	probably benign	Het
Slc9a4	A	G	1: 40,662,664 (GRCm39)	S644G	probably benign	Het
Slc9a9	G	A	9: 94,821,599 (GRCm39)	A329T	probably damaging	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Sox7	T	A	14: 64,185,637 (GRCm39)	H224Q	probably benign	Het
Spata31	T	C	13: 65,070,479 (GRCm39)	S876P	probably damaging	Het
Syndig1	G	A	2: 149,845,208 (GRCm39)	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,870,421 (GRCm39)	I150L	probably benign	Het
Tasor	A	G	14: 27,168,343 (GRCm39)	Y295C	probably damaging	Het
Tmem59l	G	A	8: 70,939,006 (GRCm39)	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,019,168 (GRCm39)	D222E	possibly damaging	Het
Trim52	T	C	14: 106,344,483 (GRCm39)	L47P	probably damaging	Het
Ttc34	T	A	4: 154,923,762 (GRCm39)	I157K	probably benign	Het
Txndc16	A	G	14: 45,389,224 (GRCm39)	F492S	probably damaging	Het
Ubr4	A	G	4: 139,182,897 (GRCm39)	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,141,359 (GRCm39)	I702F	probably damaging	Het
Wdr12	T	A	1: 60,121,783 (GRCm39)	H256L	probably damaging	Het
Xirp2	A	G	2: 67,346,888 (GRCm39)	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,270,459 (GRCm39)	Q500*	probably null	Het
Zfp583	T	C	7: 6,328,475 (GRCm39)	N38S	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
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
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'- AATGCACGTTTCGGATTTGTAGC -3'
(R):5'- AAACACATTTCGTCCTTGTTGC -3'

Sequencing Primer
(F):5'- TTGTAGCATACAACCATAATCTGC -3'
(R):5'- ACATTTCGTCCTTGTTGCTATTATTG -3'

Posted On

2018-06-22