Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Ltn1'

594090

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 #

R7702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87426278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 105 (Y105N)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039449] [ENSMUST00000232095]

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: Y105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: Y105N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232095
AA Change: Y105N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.3444

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,276,452		probably null	Het
AU040320	T	A	4: 126,814,373	S261T	probably benign	Het
Banp	T	A	8: 121,978,587	C65*	probably null	Het
Bloc1s5	T	C	13: 38,603,874	D178G	probably benign	Het
Cacna1c	A	G	6: 118,598,766	F1941L		Het
Cd48	A	G	1: 171,695,780	I64V	probably damaging	Het
Cela3a	A	G	4: 137,408,190	S21P	probably benign	Het
Cidec	A	G	6: 113,434,454	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,681,521	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cux2	T	C	5: 121,868,585	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,798,048	L298F	probably benign	Het
Dnah1	C	A	14: 31,310,909	V390F	probably benign	Het
Dnah17	T	C	11: 118,025,640	I4236V	probably benign	Het
Dnah17	T	C	11: 118,121,478	D486G	possibly damaging	Het
Dpp6	T	A	5: 27,652,276	D406E	probably benign	Het
Dsp	C	T	13: 38,175,207	A318V	possibly damaging	Het
Duox1	T	C	2: 122,329,639	L745P	possibly damaging	Het
Ell	C	A	8: 70,539,714	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,420,694	L1832*	probably null	Het
Filip1	G	T	9: 79,820,649	N229K	probably benign	Het
Flg	A	T	3: 93,292,782	H195L	unknown	Het
Fndc7	G	T	3: 108,862,813	P685H	probably damaging	Het
Ggt1	A	G	10: 75,576,282	N120S	probably benign	Het
Gm4952	A	T	19: 12,627,064	H280L	probably benign	Het
Gm6583	T	C	5: 112,355,197	K214E	probably benign	Het
Golim4	A	T	3: 75,886,784	D551E	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Hmbs	A	C	9: 44,336,850		probably null	Het
Ino80	T	C	2: 119,442,573	D474G	probably benign	Het
Ipo4	A	C	14: 55,632,330	H343Q	probably damaging	Het
Jade2	C	T	11: 51,816,917	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,117,497	T453I	probably damaging	Het
Klk6	T	C	7: 43,829,265	S199P	probably damaging	Het
Map3k19	G	T	1: 127,829,090	T394N	probably damaging	Het
Megf6	G	A	4: 154,270,470	D1445N	probably benign	Het
Mmp21	A	G	7: 133,679,062	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,720,602		probably null	Het
Nckipsd	A	T	9: 108,814,017	R38*	probably null	Het
Nob1	G	A	8: 107,413,105	R341*	probably null	Het
Olfr204	A	G	16: 59,314,634	Y258H	probably damaging	Het
Olfr378	T	A	11: 73,433,349		probably benign	Het
Olfr741	A	G	14: 50,486,294	T279A	possibly damaging	Het
Pcdh1	A	G	18: 38,203,516	L22P	unknown	Het
Pebp4	T	A	14: 70,059,607	N198K	probably benign	Het
Pkp4	T	C	2: 59,308,413	S336P	probably damaging	Het
Prr5l	T	A	2: 101,717,097	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,709,555	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,709,556	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,690,333	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,672,796	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,206,105		probably null	Het
Syne1	T	C	10: 5,245,835	E3945G	probably damaging	Het
Syne2	A	G	12: 75,990,387	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,203,418	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,360,801	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,443,917	C95S	probably benign	Het
Trappc8	C	T	18: 20,825,062	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,014,336	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Vmn1r123	A	C	7: 21,162,377	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,928,129	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802	S438P	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
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
R9234:Ltn1	UTSW	16	87397201	missense	probably damaging	0.98
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'- GGGTTTCTTTACTGACAATCATGG -3'
(R):5'- TTCTTTGTGGCACAGGCAG -3'

Sequencing Primer
(F):5'- CCTTTCCAGTGAGATTGTAGCCAAG -3'
(R):5'- GGCAGAAATGATGCATTCTCC -3'

Posted On

2019-11-12