Mutagenetix > Incidental Mutation

Incidental Mutation 'R9234:Ltn1'

701013

Institutional Source

Beutler Lab

Gene Symbol

Ltn1

Ensembl Gene

ENSMUSG00000052299

Gene Name

listerin E3 ubiquitin protein ligase 1

Synonyms

4930528H02Rik, Rnf160, Zfp294, Listerin

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9234 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87397201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1417 (D1417E)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039449]

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: D1417E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: D1417E

Domain	Start	End	E-Value	Type
low complexity region	160	176	N/A	INTRINSIC
low complexity region	400	410	N/A	INTRINSIC
low complexity region	509	522	N/A	INTRINSIC
low complexity region	553	569	N/A	INTRINSIC
low complexity region	815	832	N/A	INTRINSIC
low complexity region	1380	1392	N/A	INTRINSIC
low complexity region	1427	1451	N/A	INTRINSIC
RING	1716	1762	1.05e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Mice homozygous for a point mutation display progressive neuron degeneration and age dependent motor deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 156,003,878	Y20H	probably benign	Het
Arid5b	A	G	10: 68,128,798	F348L	possibly damaging	Het
Bms1	C	A	6: 118,398,083	A777S	probably damaging	Het
C2cd3	A	G	7: 100,399,805	Y61C		Het
Caprin2	A	T	6: 148,842,839	Y1029*	probably null	Het
Casp1	A	T	9: 5,303,128	D194V	probably benign	Het
Crkl	A	G	16: 17,468,958	E126G	probably damaging	Het
Crp	A	T	1: 172,698,846	D166V	probably damaging	Het
Dnah10	A	C	5: 124,741,925	D425A	possibly damaging	Het
Dnah11	A	T	12: 117,987,360	L3071Q	probably damaging	Het
Dnah9	T	A	11: 66,033,925	I2168F	possibly damaging	Het
Elp3	T	A	14: 65,551,471	I388F	probably damaging	Het
Espn	C	A	4: 152,132,923		probably null	Het
Fbrsl1	G	T	5: 110,363,384	F504L	probably benign	Het
Fzd9	A	C	5: 135,250,686	M115R	probably damaging	Het
Git2	A	T	5: 114,761,621	Y224N	possibly damaging	Het
Gm9195	A	T	14: 72,458,346	Y1415*	probably null	Het
Gnpat	T	A	8: 124,883,440	L454Q	probably damaging	Het
Grm5	C	T	7: 88,074,232	P577S	probably damaging	Het
Hfm1	T	C	5: 106,893,468	N683S	probably benign	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Leng8	C	A	7: 4,142,248	P216T	probably damaging	Het
Letm2	C	A	8: 25,594,086	R43L	probably benign	Het
Lims2	A	T	18: 31,957,890	Y309F	probably benign	Het
Llgl1	T	C	11: 60,710,130		probably null	Het
Map4k4	T	A	1: 39,990,101	N345K	unknown	Het
Mapre2	T	C	18: 23,804,179	I26T	probably benign	Het
Nfe2	A	G	15: 103,251,209		probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Ntrk1	A	G	3: 87,788,315		probably null	Het
Olfr187	T	C	16: 59,036,426	N104D	probably benign	Het
Olfr623	T	A	7: 103,660,743	Y169F	possibly damaging	Het
Olfr670	A	G	7: 104,960,444	F96S	probably damaging	Het
Otud7b	G	T	3: 96,140,460	Q43H	probably damaging	Het
Pcdhb5	T	C	18: 37,320,642	V25A	probably benign	Het
Pcolce2	A	G	9: 95,678,386	T163A	probably benign	Het
Pdgfra	T	A	5: 75,163,601	V39E	possibly damaging	Het
Pdgfrb	T	A	18: 61,061,228	W26R	probably null	Het
Pigp	T	A	16: 94,364,663	*206Y	probably null	Het
Pip5kl1	G	T	2: 32,578,199	G126C	probably benign	Het
Plekhg2	G	T	7: 28,364,790	T442K	probably benign	Het
Prmt5	A	T	14: 54,511,217	S375T	possibly damaging	Het
Rnf213	T	A	11: 119,450,117	M3529K		Het
Ror2	C	A	13: 53,111,338	D573Y	probably damaging	Het
Shank1	A	G	7: 44,313,155	T98A	unknown	Het
Shcbp1	A	T	8: 4,748,800	I373K	possibly damaging	Het
Slc25a42	A	G	8: 70,190,086	S64P	probably damaging	Het
Smco3	T	A	6: 136,831,412	I155F	probably damaging	Het
Snx4	C	A	16: 33,266,791	S102*	probably null	Het
Snx4	T	A	16: 33,287,699	S288T	probably benign	Het
Socs4	A	G	14: 47,290,259	N217S	probably benign	Het
Tatdn2	G	A	6: 113,702,722		probably null	Het
Tmprss2	A	G	16: 97,578,621	Y160H	probably damaging	Het
Trim37	T	C	11: 87,145,567	I158T	possibly damaging	Het
Trip11	C	T	12: 101,845,731		probably null	Het
Ubr3	G	A	2: 69,897,646	A118T	probably benign	Het
Ubxn7	T	C	16: 32,360,077		probably null	Het
Unc5cl	C	T	17: 48,463,630	H369Y	probably damaging	Het
Unc5d	A	T	8: 28,760,849	N263K	probably damaging	Het
Vmn2r59	A	G	7: 42,012,483	I636T	possibly damaging	Het
Vps13d	G	T	4: 145,149,222	Q1578K		Het
Wnk2	T	C	13: 49,070,798	D1171G	probably damaging	Het
Zfpm2	A	G	15: 41,103,074	Y985C	probably damaging	Het
Zpbp2	A	T	11: 98,552,572	N77I	probably damaging	Het

Other mutations in Ltn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Ltn1	APN	16	87418490	missense	probably benign	0.03
IGL01139:Ltn1	APN	16	87416009	missense	probably benign	0.04
IGL01359:Ltn1	APN	16	87405693	splice site	probably benign
IGL01503:Ltn1	APN	16	87420807	critical splice donor site	probably benign
IGL01529:Ltn1	APN	16	87381471	missense	probably benign	0.00
IGL02437:Ltn1	APN	16	87398001	missense	probably benign	0.04
IGL02658:Ltn1	APN	16	87415774	missense	probably damaging	1.00
IGL02890:Ltn1	APN	16	87409297	splice site	probably null
IGL02899:Ltn1	APN	16	87382659	missense	probably benign	0.34
IGL02902:Ltn1	APN	16	87379805	missense	possibly damaging	0.70
IGL03128:Ltn1	APN	16	87415944	missense	probably benign	0.00
IGL03392:Ltn1	APN	16	87425611	missense	probably damaging	1.00
IGL03046:Ltn1	UTSW	16	87405621	missense	probably benign	0.10
PIT4305001:Ltn1	UTSW	16	87420323	missense	probably damaging	1.00
PIT4366001:Ltn1	UTSW	16	87380840	nonsense	probably null
R0126:Ltn1	UTSW	16	87425640	missense	probably benign	0.00
R0164:Ltn1	UTSW	16	87405519	splice site	probably benign
R0165:Ltn1	UTSW	16	87405519	splice site	probably benign
R0280:Ltn1	UTSW	16	87397838	missense	probably damaging	1.00
R0565:Ltn1	UTSW	16	87416010	missense	probably benign	0.01
R0733:Ltn1	UTSW	16	87412507	missense	probably benign	0.01
R1034:Ltn1	UTSW	16	87397137	splice site	probably null
R1252:Ltn1	UTSW	16	87416030	missense	probably benign	0.00
R1524:Ltn1	UTSW	16	87381556	missense	probably damaging	1.00
R1746:Ltn1	UTSW	16	87411781	missense	possibly damaging	0.86
R1826:Ltn1	UTSW	16	87415616	missense	probably damaging	1.00
R1831:Ltn1	UTSW	16	87400146	missense	possibly damaging	0.94
R1839:Ltn1	UTSW	16	87416264	nonsense	probably null
R1860:Ltn1	UTSW	16	87416343	missense	probably benign	0.06
R1997:Ltn1	UTSW	16	87381637	missense	probably damaging	1.00
R2109:Ltn1	UTSW	16	87415642	missense	probably benign	0.03
R2134:Ltn1	UTSW	16	87382713	missense	probably damaging	1.00
R2135:Ltn1	UTSW	16	87382713	missense	probably damaging	1.00
R2193:Ltn1	UTSW	16	87427647	missense	probably damaging	1.00
R2307:Ltn1	UTSW	16	87432424	critical splice donor site	probably null
R2376:Ltn1	UTSW	16	87420807	critical splice donor site	probably null
R3054:Ltn1	UTSW	16	87404073	missense	probably benign	0.32
R3404:Ltn1	UTSW	16	87416215	missense	probably damaging	0.98
R3405:Ltn1	UTSW	16	87416215	missense	probably damaging	0.98
R3618:Ltn1	UTSW	16	87420899	missense	probably damaging	1.00
R4065:Ltn1	UTSW	16	87416230	missense	possibly damaging	0.84
R4066:Ltn1	UTSW	16	87416230	missense	possibly damaging	0.84
R4067:Ltn1	UTSW	16	87416230	missense	possibly damaging	0.84
R4288:Ltn1	UTSW	16	87397988	missense	possibly damaging	0.57
R4436:Ltn1	UTSW	16	87405614	missense	probably benign	0.17
R4535:Ltn1	UTSW	16	87426286	missense	probably damaging	1.00
R4581:Ltn1	UTSW	16	87402024	critical splice donor site	probably null
R4669:Ltn1	UTSW	16	87418487	missense	possibly damaging	0.90
R4715:Ltn1	UTSW	16	87418494	missense	probably damaging	0.98
R4830:Ltn1	UTSW	16	87379694	missense	probably damaging	1.00
R4887:Ltn1	UTSW	16	87398809	nonsense	probably null
R4961:Ltn1	UTSW	16	87397791	missense	probably benign
R4992:Ltn1	UTSW	16	87405587	missense	possibly damaging	0.70
R5073:Ltn1	UTSW	16	87427740	missense	probably damaging	0.99
R5288:Ltn1	UTSW	16	87416011	missense	possibly damaging	0.80
R5802:Ltn1	UTSW	16	87415681	missense	probably benign	0.17
R5907:Ltn1	UTSW	16	87381503	missense	possibly damaging	0.94
R6180:Ltn1	UTSW	16	87427789	missense	probably damaging	1.00
R6194:Ltn1	UTSW	16	87415810	missense	probably damaging	1.00
R6257:Ltn1	UTSW	16	87411774	missense	possibly damaging	0.74
R6301:Ltn1	UTSW	16	87420306	missense	probably benign
R6481:Ltn1	UTSW	16	87378980	missense	probably damaging	1.00
R6525:Ltn1	UTSW	16	87420186	missense	probably damaging	1.00
R6958:Ltn1	UTSW	16	87397791	missense	probably benign
R6969:Ltn1	UTSW	16	87415690	missense	probably damaging	1.00
R7002:Ltn1	UTSW	16	87423473	missense	probably benign
R7038:Ltn1	UTSW	16	87424871	missense	probably damaging	1.00
R7062:Ltn1	UTSW	16	87427603	missense	probably damaging	0.98
R7152:Ltn1	UTSW	16	87427641	missense	probably damaging	1.00
R7180:Ltn1	UTSW	16	87418494	missense	probably damaging	0.98
R7247:Ltn1	UTSW	16	87409387	missense	probably benign	0.00
R7454:Ltn1	UTSW	16	87397812	missense	probably benign	0.03
R7471:Ltn1	UTSW	16	87397899	missense	probably benign
R7511:Ltn1	UTSW	16	87408828	missense	possibly damaging	0.63
R7691:Ltn1	UTSW	16	87398686	missense	probably damaging	0.99
R7702:Ltn1	UTSW	16	87426278	missense	probably damaging	1.00
R7761:Ltn1	UTSW	16	87411793	missense	probably benign
R8002:Ltn1	UTSW	16	87415947	missense	probably benign	0.17
R8101:Ltn1	UTSW	16	87418497	missense	probably damaging	1.00
R8142:Ltn1	UTSW	16	87381641	missense	probably benign	0.21
R8214:Ltn1	UTSW	16	87380803	missense	probably benign	0.02
R8674:Ltn1	UTSW	16	87398785	missense	probably benign
R8783:Ltn1	UTSW	16	87410359	missense	probably benign	0.30
R8839:Ltn1	UTSW	16	87418502	missense	probably damaging	1.00
R8885:Ltn1	UTSW	16	87381545	missense	probably damaging	1.00
R8889:Ltn1	UTSW	16	87432342	intron	probably benign
R8892:Ltn1	UTSW	16	87432342	intron	probably benign
R8919:Ltn1	UTSW	16	87381493	missense	probably damaging	0.98
R8970:Ltn1	UTSW	16	87416038	missense	probably benign
R9113:Ltn1	UTSW	16	87427644	missense	probably damaging	1.00
R9206:Ltn1	UTSW	16	87400410	missense	probably benign	0.00
R9208:Ltn1	UTSW	16	87400410	missense	probably benign	0.00
R9421:Ltn1	UTSW	16	87418487	missense	possibly damaging	0.90
R9558:Ltn1	UTSW	16	87423407	missense	probably benign	0.05
R9654:Ltn1	UTSW	16	87410339	missense	probably benign	0.00
R9738:Ltn1	UTSW	16	87425636	missense	probably damaging	1.00
X0028:Ltn1	UTSW	16	87402134	missense	probably benign	0.01
Z1177:Ltn1	UTSW	16	87402037	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACAAGAATACAGCAGACAGAGTC -3'
(R):5'- TGCAGTCTTGTCCATGAGC -3'

Sequencing Primer
(F):5'- CATGTAAGGACCTGACTTGGATCC -3'
(R):5'- CAGTCTTGTCCATGAGCAATTATTTC -3'

Posted On

2022-03-25