Mutagenetix > Incidental Mutation

Incidental Mutation 'R6180:Ltn1'

488038

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

044322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6180 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87427789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 16 (S16T)

Ref Sequence

ENSEMBL: ENSMUSP00000156299 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: S16T

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

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: S16T

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: S16T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,273,258	M1142V	possibly damaging	Het
Adam39	A	G	8: 40,826,573	N667S	probably benign	Het
Ap4e1	T	A	2: 127,066,588	C1085*	probably null	Het
BC035044	A	T	6: 128,885,034		probably benign	Het
Capn11	T	C	17: 45,630,766	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,948,581	K218R	possibly damaging	Het
Ccno	T	C	13: 112,989,845	S283P	probably damaging	Het
Ccser2	A	T	14: 36,940,319	S303T	probably benign	Het
Cd53	T	A	3: 106,767,364	N129I	probably damaging	Het
Cd63	G	A	10: 128,912,064		probably null	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Daam2	A	G	17: 49,469,666	M797T	probably damaging	Het
Dmgdh	G	A	13: 93,752,286	V811I	possibly damaging	Het
Dpysl4	A	T	7: 139,090,334	T123S	probably damaging	Het
Erap1	A	G	13: 74,666,226	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,200,185	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,386,679	D167G	probably damaging	Het
Flrt2	C	T	12: 95,779,238	Q117*	probably null	Het
Ftsj3	A	T	11: 106,253,340		probably null	Het
Ggn	A	G	7: 29,173,049	Y618C	probably damaging	Het
Glis1	T	A	4: 107,627,513	S402T	probably benign	Het
Gm13762	T	G	2: 88,973,882	N3T	probably damaging	Het
Gm4781	T	A	10: 100,396,487		noncoding transcript	Het
Gm7168	T	A	17: 13,948,596	I75K	probably damaging	Het
Gm7298	C	T	6: 121,760,823	H348Y	probably benign	Het
Gria1	G	T	11: 57,242,792	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,216,547	T549M	probably damaging	Het
H2-M10.6	T	A	17: 36,814,286	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,346,103	V336I	probably benign	Het
Il12b	G	A	11: 44,412,626	A327T	probably benign	Het
Inpp4a	C	A	1: 37,380,102	P588T	probably benign	Het
Kctd12	C	A	14: 102,981,591	D284Y	probably damaging	Het
Kif28	C	A	1: 179,697,772		probably null	Het
Krt2	T	C	15: 101,815,044	N332S	probably benign	Het
Lama2	G	A	10: 26,981,499	T3118I	probably benign	Het
Lgi1	T	C	19: 38,264,956	L25P	probably damaging	Het
Lhx3	T	A	2: 26,201,491	M269L	probably benign	Het
Lmtk2	A	T	5: 144,175,342	E960V	probably damaging	Het
Loxl4	A	T	19: 42,608,352	D60E	probably damaging	Het
Lrp2	T	A	2: 69,503,524	N1458Y	possibly damaging	Het
Mllt6	G	A	11: 97,678,536	A875T	possibly damaging	Het
Mpp5	C	T	12: 78,817,310	H216Y	probably benign	Het
Mrgprb4	A	T	7: 48,198,826	I118N	probably damaging	Het
Mrps7	A	G	11: 115,604,881	T82A	possibly damaging	Het
Mug2	A	G	6: 122,079,606	E1170G	probably benign	Het
Nav2	A	G	7: 49,458,167	H647R	probably benign	Het
Nbeal2	T	C	9: 110,625,147	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,411,198	I644L	possibly damaging	Het
Olfr952	A	T	9: 39,426,712	Y120N	probably damaging	Het
Padi4	A	G	4: 140,756,473	M352T	possibly damaging	Het
Pcdhgc3	C	A	18: 37,806,937	D130E	probably damaging	Het
Pde6a	A	T	18: 61,284,092		probably null	Het
Pdpn	C	T	4: 143,299,222	G12R	probably damaging	Het
Pot1a	A	T	6: 25,771,621	D200E	probably benign	Het
Ppa1	A	T	10: 61,667,652	D236V	probably benign	Het
Ptprn2	T	A	12: 116,859,119	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,029,101	E297G	probably damaging	Het
Rgl1	T	C	1: 152,519,172	N750S	probably damaging	Het
Rinl	A	G	7: 28,796,940	N449D	probably benign	Het
Samd8	T	A	14: 21,775,025	H79Q	probably benign	Het
Scn11a	T	C	9: 119,754,867	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,396,127	L105P	probably benign	Het
Slc7a12	A	T	3: 14,481,140		probably null	Het
Slco1a4	A	G	6: 141,817,820	I390T	possibly damaging	Het
Snta1	T	C	2: 154,377,182	N411S	probably benign	Het
Srgap2	T	C	1: 131,349,541	T323A	probably benign	Het
Ssh2	G	T	11: 77,453,465	V759L	probably benign	Het
St5	A	C	7: 109,556,888	D218E	probably benign	Het
Swap70	G	T	7: 110,269,981	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,458,770	C914F	probably benign	Het
Tbx3	A	G	5: 119,674,067	D144G	probably damaging	Het
Tgfbr2	T	C	9: 116,110,144	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,791,031		probably null	Het
Usf3	T	A	16: 44,221,105	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,399,871	C763*	probably null	Het
Vmn1r115	A	C	7: 20,844,715	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,475,329	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,491	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,305,085	V95A	probably damaging	Het
Vrk3	A	T	7: 44,769,611	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,511,643	A223E	probably benign	Het
Xirp2	T	C	2: 67,505,577		probably null	Het
Xpo7	T	C	14: 70,682,803	N642S	probably benign	Het
Ythdc1	G	A	5: 86,828,094	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,135,390	E316G	probably damaging	Het
Zfp488	T	A	14: 33,970,794	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,656,471	V994L	probably benign	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
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
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'- AAGTTTCCGCAGCACCATTC -3'
(R):5'- GCCCACTTCACAAGTATATTCAG -3'

Sequencing Primer
(F):5'- GCAGCACCATTCGGAAATCGG -3'
(R):5'- CTACTTGGTTCAAAACAGAGC -3'

Posted On

2017-10-10