Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Ltn1'

21413

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

038411-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0126 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87425640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 168 (D168E)

Ref Sequence

ENSEMBL: ENSMUSP00000156299 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449
AA Change: D168E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: D168E

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 benign
Transcript: ENSMUST00000232095
AA Change: D168E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,443,730	L1730P	possibly damaging	Het
Adam9	T	C	8: 24,970,737	N577S	probably damaging	Het
Add1	T	C	5: 34,613,579	Y316H	probably benign	Het
Agpat3	T	C	10: 78,278,056	D266G	probably null	Het
Aldh3a2	C	A	11: 61,224,558	Q524H	probably benign	Het
Alox12b	A	C	11: 69,167,471	S550R	probably benign	Het
Ano4	T	A	10: 88,952,292	I753F	possibly damaging	Het
AW011738	T	A	4: 156,203,647		probably benign	Het
B4galt3	C	T	1: 171,276,165	T103M	probably damaging	Het
Cabs1	C	T	5: 87,980,195	T235I	probably damaging	Het
Casc4	T	C	2: 121,906,084		probably benign	Het
Casq2	A	G	3: 102,133,399	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866		probably null	Het
Cdh12	A	T	15: 21,583,945	M624L	probably benign	Het
Cdh5	A	C	8: 104,140,682		probably null	Het
Col7a1	A	G	9: 108,969,583		probably benign	Het
Cpne2	A	T	8: 94,554,933	I199F	probably damaging	Het
Crebbp	A	T	16: 4,084,063	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,612,579	C53R	probably damaging	Het
Degs1	T	C	1: 182,279,692	M1V	probably null	Het
Disp2	T	A	2: 118,790,338	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,319	D601G	probably benign	Het
Dnpep	G	A	1: 75,312,538	Q310*	probably null	Het
Dsg1a	A	G	18: 20,340,878	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,396,040		probably benign	Het
Foxh1	A	T	15: 76,669,254	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,411,875		probably benign	Het
Gp1ba	A	T	11: 70,641,033		probably benign	Het
Gucy1b1	A	G	3: 82,037,911		probably benign	Het
Gucy2g	T	G	19: 55,241,166	D24A	probably benign	Het
Hirip3	A	G	7: 126,863,442	K190R	probably damaging	Het
Hmmr	T	C	11: 40,705,954	N717D	probably damaging	Het
Il12b	A	T	11: 44,410,218	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,738,322	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,219,326	L175P	probably damaging	Het
Klc2	T	C	19: 5,112,746	M242V	possibly damaging	Het
Klf3	T	C	5: 64,822,103	M96T	probably benign	Het
Lrrc66	G	T	5: 73,607,088	H871N	probably benign	Het
Mak	T	C	13: 41,032,596	D532G	probably damaging	Het
March6	A	G	15: 31,462,005	M859T	probably benign	Het
Mlxipl	C	A	5: 135,132,323	N365K	probably damaging	Het
Mplkip	T	C	13: 17,695,752	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,269,525	H584L	probably benign	Het
Myt1l	A	G	12: 29,851,720	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,866,229	Y139N	possibly damaging	Het
Olfr1090	T	A	2: 86,754,637	I34L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr568	A	G	7: 102,877,140	T7A	probably benign	Het
Pak6	C	T	2: 118,690,332	S268F	possibly damaging	Het
Parp10	G	A	15: 76,243,066	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,256,268	D69E	probably damaging	Het
Polr2a	T	G	11: 69,747,425	K105T	probably damaging	Het
Prdm16	A	T	4: 154,328,838		probably benign	Het
Prepl	G	A	17: 85,083,242	T96I	probably benign	Het
Ret	C	T	6: 118,165,995		probably benign	Het
Rgl3	A	T	9: 21,975,812	D541E	probably benign	Het
Rpa1	A	C	11: 75,318,529	Y143D	probably benign	Het
Rps16	T	A	7: 28,351,083	L47Q	probably damaging	Het
Sbno2	A	T	10: 80,068,853		probably null	Het
Scube1	A	T	15: 83,621,063	N385K	probably damaging	Het
Shank2	A	G	7: 144,031,355	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,729,257	C496F	possibly damaging	Het
Snap47	A	G	11: 59,437,987	V163A	probably damaging	Het
Sntg2	T	C	12: 30,201,261		probably benign	Het
Sp7	C	A	15: 102,358,460	V322F	probably damaging	Het
Spic	T	C	10: 88,676,062	K111E	probably damaging	Het
Sqor	T	C	2: 122,798,027		probably benign	Het
St6galnac1	T	A	11: 116,766,584	M385L	probably benign	Het
Synpo2	A	T	3: 123,079,862	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,396,589	V638E	probably damaging	Het
Taar1	T	A	10: 23,920,547	S48T	probably benign	Het
Tbx18	T	A	9: 87,729,653	D108V	possibly damaging	Het
Tdh	C	T	14: 63,497,593		probably benign	Het
Tldc1	T	C	8: 119,762,350	D398G	possibly damaging	Het
Tlr9	T	A	9: 106,225,682	L724Q	probably benign	Het
Tmem270	T	A	5: 134,902,788	Y100F	probably benign	Het
Trim65	G	C	11: 116,124,604		probably benign	Het
Trrap	A	T	5: 144,805,750	K1393*	probably null	Het
Ttc13	A	G	8: 124,683,291	V523A	probably damaging	Het
Utrn	T	A	10: 12,711,475	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,976,953	M261I	probably benign	Het
Vwa5a	A	G	9: 38,737,807		probably null	Het
Zfp108	A	T	7: 24,260,724	T247S	probably benign	Het
Zfp366	A	T	13: 99,228,621	I97F	probably benign	Het
Zfp986	C	T	4: 145,898,943	R58C	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
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
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'- TTTACAAGAGTAGGTAAAAGAGCCGCC -3'
(R):5'- CAGAAGAGCGAGAATGAATCCCTCC -3'

Sequencing Primer
(F):5'- CACCGGATGCCTGCCAG -3'
(R):5'- TTGGCTACAATCTCACTGGAAAGG -3'

Posted On

2013-04-11