Mutagenetix > Incidental Mutation

Incidental Mutation 'R7511:Ltn1'

582117

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 #

R7511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87408828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 983 (T983K)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039449
AA Change: T983K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: T983K

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

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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
1700061G19Rik	A	G	17: 56,882,954	K327E	probably damaging	Het
Adamts14	G	A	10: 61,218,528	A572V	possibly damaging	Het
Add2	A	G	6: 86,098,615	N249D	probably benign	Het
Adgrb2	A	T	4: 130,022,111	M1503L	probably benign	Het
Alms1	A	G	6: 85,609,425	K421E	unknown	Het
B3galt5	A	G	16: 96,315,716	K183R	possibly damaging	Het
Braf	T	C	6: 39,688,253	I94M	probably damaging	Het
Cacna1a	A	G	8: 84,567,682	E1158G	possibly damaging	Het
Ccdc177	C	A	12: 80,757,683	V606L	unknown	Het
Ccdc38	C	A	10: 93,562,800	L147I	possibly damaging	Het
Ccdc83	T	C	7: 90,236,922	N210D	possibly damaging	Het
Cdh7	T	C	1: 109,997,853		probably benign	Het
Coro1b	T	A	19: 4,152,526	Y338N	probably damaging	Het
Crlf3	A	C	11: 80,063,986		probably null	Het
Crnn	A	T	3: 93,149,416	K503M	probably damaging	Het
Cul5	T	A	9: 53,625,969	N521I	probably damaging	Het
Cyp2c50	T	A	19: 40,092,190		probably null	Het
Dis3	T	C	14: 99,099,606	H23R	possibly damaging	Het
Dock7	A	T	4: 99,061,282	L441H		Het
Dock7	C	A	4: 99,079,755	E162*	probably null	Het
Dpp9	A	T	17: 56,205,611	M174K	possibly damaging	Het
Dtd1	A	G	2: 144,617,227	D57G	probably benign	Het
F3	A	G	3: 121,731,557	E149G	probably damaging	Het
Glp2r	C	T	11: 67,757,591	R95K	probably damaging	Het
Gm13103	T	A	4: 143,846,546	I3N	possibly damaging	Het
Gm38394	T	A	1: 133,659,243	I119L	probably benign	Het
Gpr107	T	A	2: 31,178,346	F273L	probably benign	Het
Gria1	A	T	11: 57,283,625	I647F	probably damaging	Het
Heatr5a	A	C	12: 51,879,434	I1878S	possibly damaging	Het
Hsf2	G	T	10: 57,504,557	C230F	probably benign	Het
Igfbp2	T	G	1: 72,852,005	M254R	probably damaging	Het
Kifc2	C	A	15: 76,661,337	Q95K	possibly damaging	Het
Lnx1	T	G	5: 74,620,311	N183T	probably benign	Het
Macf1	A	T	4: 123,473,300	V2556D	possibly damaging	Het
Map4k3	A	G	17: 80,597,648	V738A	possibly damaging	Het
Mtmr12	T	G	15: 12,265,595	Y466D	possibly damaging	Het
Musk	A	G	4: 58,333,672	I256V	probably benign	Het
Ociad1	T	C	5: 73,294,995	F43S	probably damaging	Het
Olfr729	A	G	14: 50,148,256	L206P	probably damaging	Het
Olfr980	A	T	9: 40,006,933	S5R	possibly damaging	Het
Pah	G	A	10: 87,554,387	A132T	probably damaging	Het
Pak7	G	A	2: 136,083,324	S686F	possibly damaging	Het
Pi4kb	T	C	3: 94,989,312	S307P	probably benign	Het
Plxna1	T	C	6: 89,341,907	T645A	possibly damaging	Het
Pold1	C	T	7: 44,542,190	R124K	possibly damaging	Het
Prdm10	T	C	9: 31,378,481	Y1153H	probably damaging	Het
Ptk2b	T	C	14: 66,154,244	N947S	possibly damaging	Het
Rad54b	A	G	4: 11,578,956		probably null	Het
S1pr4	A	G	10: 81,499,789		probably benign	Het
Sec23b	A	G	2: 144,590,349	K760E	probably benign	Het
Sergef	T	A	7: 46,614,746	N239I	probably damaging	Het
Serpinb9	C	A	13: 33,008,071	N78K	probably benign	Het
Sntb1	G	T	15: 55,647,951	F412L	possibly damaging	Het
Stradb	T	A	1: 58,992,949	F294L	probably damaging	Het
Ttll11	G	A	2: 35,903,034	R266C	probably damaging	Het
Ttn	A	T	2: 76,794,538	M15232K	possibly damaging	Het
Tubgcp2	T	C	7: 140,004,880	I547M	probably benign	Het
Vgf	C	A	5: 137,031,391	P136T	unknown	Het
Vmn1r36	T	A	6: 66,716,930		probably benign	Het
Vmn2r102	T	C	17: 19,681,143	S511P	probably damaging	Het
Wdr27	C	T	17: 14,883,703	V714I	probably benign	Het
Zfp229	A	G	17: 21,745,064	S92G	probably benign	Het
Zfp710	C	T	7: 80,082,502	Q476*	probably null	Het
Zfp808	A	G	13: 62,172,823	N622S	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
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
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'- GAAGATCACAGAGTGTCTACCTG -3'
(R):5'- TACAAAGCAAGCGTCTGAGC -3'

Sequencing Primer
(F):5'- AGAGTGTCTACCTGAACCTCG -3'
(R):5'- CAGCATGTTCTAGTAGCCTCATAGG -3'

Posted On

2019-10-17