Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Ltn1'

37478

Institutional Source

Beutler Lab

Gene Symbol

Ltn1

Ensembl Gene

ENSMUSG00000052299

Gene Name

listerin E3 ubiquitin protein ligase 1

Synonyms

Listerin, Zfp294, Rnf160, 4930528H02Rik

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87173539-87229500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87194726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1391 (L1391P)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: L1391P

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

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: L1391P

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

Meta Mutation Damage Score

0.8972

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crocc	T	C	4: 140,755,737 (GRCm39)	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Mast3	A	G	8: 71,236,439 (GRCm39)	Y681H	probably damaging	Het
Mast3	A	G	8: 71,240,564 (GRCm39)	V291A	possibly damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
Polb	A	T	8: 23,130,408 (GRCm39)	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Raet1d	T	A	10: 22,246,782 (GRCm39)	C37S	probably damaging	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	probably benign	Het

Other mutations in Ltn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Ltn1	APN	16	87,215,378 (GRCm39)	missense	probably benign	0.03
IGL01139:Ltn1	APN	16	87,212,897 (GRCm39)	missense	probably benign	0.04
IGL01359:Ltn1	APN	16	87,202,581 (GRCm39)	splice site	probably benign
IGL01503:Ltn1	APN	16	87,217,695 (GRCm39)	critical splice donor site	probably benign
IGL01529:Ltn1	APN	16	87,178,359 (GRCm39)	missense	probably benign	0.00
IGL02437:Ltn1	APN	16	87,194,889 (GRCm39)	missense	probably benign	0.04
IGL02658:Ltn1	APN	16	87,212,662 (GRCm39)	missense	probably damaging	1.00
IGL02890:Ltn1	APN	16	87,206,185 (GRCm39)	splice site	probably null
IGL02899:Ltn1	APN	16	87,179,547 (GRCm39)	missense	probably benign	0.34
IGL02902:Ltn1	APN	16	87,176,693 (GRCm39)	missense	possibly damaging	0.70
IGL03128:Ltn1	APN	16	87,212,832 (GRCm39)	missense	probably benign	0.00
IGL03392:Ltn1	APN	16	87,222,499 (GRCm39)	missense	probably damaging	1.00
IGL03046:Ltn1	UTSW	16	87,202,509 (GRCm39)	missense	probably benign	0.10
PIT4305001:Ltn1	UTSW	16	87,217,211 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Ltn1	UTSW	16	87,177,728 (GRCm39)	nonsense	probably null
R0126:Ltn1	UTSW	16	87,222,528 (GRCm39)	missense	probably benign	0.00
R0164:Ltn1	UTSW	16	87,202,407 (GRCm39)	splice site	probably benign
R0165:Ltn1	UTSW	16	87,202,407 (GRCm39)	splice site	probably benign
R0565:Ltn1	UTSW	16	87,212,898 (GRCm39)	missense	probably benign	0.01
R0733:Ltn1	UTSW	16	87,209,395 (GRCm39)	missense	probably benign	0.01
R1034:Ltn1	UTSW	16	87,194,025 (GRCm39)	splice site	probably null
R1252:Ltn1	UTSW	16	87,212,918 (GRCm39)	missense	probably benign	0.00
R1524:Ltn1	UTSW	16	87,178,444 (GRCm39)	missense	probably damaging	1.00
R1746:Ltn1	UTSW	16	87,208,669 (GRCm39)	missense	possibly damaging	0.86
R1826:Ltn1	UTSW	16	87,212,504 (GRCm39)	missense	probably damaging	1.00
R1831:Ltn1	UTSW	16	87,197,034 (GRCm39)	missense	possibly damaging	0.94
R1839:Ltn1	UTSW	16	87,213,152 (GRCm39)	nonsense	probably null
R1860:Ltn1	UTSW	16	87,213,231 (GRCm39)	missense	probably benign	0.06
R1997:Ltn1	UTSW	16	87,178,525 (GRCm39)	missense	probably damaging	1.00
R2109:Ltn1	UTSW	16	87,212,530 (GRCm39)	missense	probably benign	0.03
R2134:Ltn1	UTSW	16	87,179,601 (GRCm39)	missense	probably damaging	1.00
R2135:Ltn1	UTSW	16	87,179,601 (GRCm39)	missense	probably damaging	1.00
R2193:Ltn1	UTSW	16	87,224,535 (GRCm39)	missense	probably damaging	1.00
R2307:Ltn1	UTSW	16	87,229,312 (GRCm39)	critical splice donor site	probably null
R2376:Ltn1	UTSW	16	87,217,695 (GRCm39)	critical splice donor site	probably null
R3054:Ltn1	UTSW	16	87,200,961 (GRCm39)	missense	probably benign	0.32
R3404:Ltn1	UTSW	16	87,213,103 (GRCm39)	missense	probably damaging	0.98
R3405:Ltn1	UTSW	16	87,213,103 (GRCm39)	missense	probably damaging	0.98
R3618:Ltn1	UTSW	16	87,217,787 (GRCm39)	missense	probably damaging	1.00
R4065:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4066:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4067:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4288:Ltn1	UTSW	16	87,194,876 (GRCm39)	missense	possibly damaging	0.57
R4436:Ltn1	UTSW	16	87,202,502 (GRCm39)	missense	probably benign	0.17
R4535:Ltn1	UTSW	16	87,223,174 (GRCm39)	missense	probably damaging	1.00
R4581:Ltn1	UTSW	16	87,198,912 (GRCm39)	critical splice donor site	probably null
R4669:Ltn1	UTSW	16	87,215,375 (GRCm39)	missense	possibly damaging	0.90
R4715:Ltn1	UTSW	16	87,215,382 (GRCm39)	missense	probably damaging	0.98
R4830:Ltn1	UTSW	16	87,176,582 (GRCm39)	missense	probably damaging	1.00
R4887:Ltn1	UTSW	16	87,195,697 (GRCm39)	nonsense	probably null
R4961:Ltn1	UTSW	16	87,194,679 (GRCm39)	missense	probably benign
R4992:Ltn1	UTSW	16	87,202,475 (GRCm39)	missense	possibly damaging	0.70
R5073:Ltn1	UTSW	16	87,224,628 (GRCm39)	missense	probably damaging	0.99
R5288:Ltn1	UTSW	16	87,212,899 (GRCm39)	missense	possibly damaging	0.80
R5802:Ltn1	UTSW	16	87,212,569 (GRCm39)	missense	probably benign	0.17
R5907:Ltn1	UTSW	16	87,178,391 (GRCm39)	missense	possibly damaging	0.94
R6180:Ltn1	UTSW	16	87,224,677 (GRCm39)	missense	probably damaging	1.00
R6194:Ltn1	UTSW	16	87,212,698 (GRCm39)	missense	probably damaging	1.00
R6257:Ltn1	UTSW	16	87,208,662 (GRCm39)	missense	possibly damaging	0.74
R6301:Ltn1	UTSW	16	87,217,194 (GRCm39)	missense	probably benign
R6481:Ltn1	UTSW	16	87,175,868 (GRCm39)	missense	probably damaging	1.00
R6525:Ltn1	UTSW	16	87,217,074 (GRCm39)	missense	probably damaging	1.00
R6958:Ltn1	UTSW	16	87,194,679 (GRCm39)	missense	probably benign
R6969:Ltn1	UTSW	16	87,212,578 (GRCm39)	missense	probably damaging	1.00
R7002:Ltn1	UTSW	16	87,220,361 (GRCm39)	missense	probably benign
R7038:Ltn1	UTSW	16	87,221,759 (GRCm39)	missense	probably damaging	1.00
R7062:Ltn1	UTSW	16	87,224,491 (GRCm39)	missense	probably damaging	0.98
R7152:Ltn1	UTSW	16	87,224,529 (GRCm39)	missense	probably damaging	1.00
R7180:Ltn1	UTSW	16	87,215,382 (GRCm39)	missense	probably damaging	0.98
R7247:Ltn1	UTSW	16	87,206,275 (GRCm39)	missense	probably benign	0.00
R7454:Ltn1	UTSW	16	87,194,700 (GRCm39)	missense	probably benign	0.03
R7471:Ltn1	UTSW	16	87,194,787 (GRCm39)	missense	probably benign
R7511:Ltn1	UTSW	16	87,205,716 (GRCm39)	missense	possibly damaging	0.63
R7691:Ltn1	UTSW	16	87,195,574 (GRCm39)	missense	probably damaging	0.99
R7702:Ltn1	UTSW	16	87,223,166 (GRCm39)	missense	probably damaging	1.00
R7761:Ltn1	UTSW	16	87,208,681 (GRCm39)	missense	probably benign
R8002:Ltn1	UTSW	16	87,212,835 (GRCm39)	missense	probably benign	0.17
R8101:Ltn1	UTSW	16	87,215,385 (GRCm39)	missense	probably damaging	1.00
R8142:Ltn1	UTSW	16	87,178,529 (GRCm39)	missense	probably benign	0.21
R8214:Ltn1	UTSW	16	87,177,691 (GRCm39)	missense	probably benign	0.02
R8674:Ltn1	UTSW	16	87,195,673 (GRCm39)	missense	probably benign
R8783:Ltn1	UTSW	16	87,207,247 (GRCm39)	missense	probably benign	0.30
R8839:Ltn1	UTSW	16	87,215,390 (GRCm39)	missense	probably damaging	1.00
R8885:Ltn1	UTSW	16	87,178,433 (GRCm39)	missense	probably damaging	1.00
R8889:Ltn1	UTSW	16	87,229,230 (GRCm39)	intron	probably benign
R8892:Ltn1	UTSW	16	87,229,230 (GRCm39)	intron	probably benign
R8919:Ltn1	UTSW	16	87,178,381 (GRCm39)	missense	probably damaging	0.98
R8970:Ltn1	UTSW	16	87,212,926 (GRCm39)	missense	probably benign
R9113:Ltn1	UTSW	16	87,224,532 (GRCm39)	missense	probably damaging	1.00
R9206:Ltn1	UTSW	16	87,197,298 (GRCm39)	missense	probably benign	0.00
R9208:Ltn1	UTSW	16	87,197,298 (GRCm39)	missense	probably benign	0.00
R9234:Ltn1	UTSW	16	87,194,089 (GRCm39)	missense	probably damaging	0.98
R9421:Ltn1	UTSW	16	87,215,375 (GRCm39)	missense	possibly damaging	0.90
R9558:Ltn1	UTSW	16	87,220,295 (GRCm39)	missense	probably benign	0.05
R9654:Ltn1	UTSW	16	87,207,227 (GRCm39)	missense	probably benign	0.00
R9738:Ltn1	UTSW	16	87,222,524 (GRCm39)	missense	probably damaging	1.00
X0028:Ltn1	UTSW	16	87,199,022 (GRCm39)	missense	probably benign	0.01
Z1177:Ltn1	UTSW	16	87,198,925 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCACGCTTTGTGGTGAGTCTATCC -3'
(R):5'- CTTTCAGAACGCAATGCTGAAACCC -3'

Sequencing Primer
(F):5'- ctgatgcccacctcttctg -3'
(R):5'- TGCTGAAACCCATGTGTGAAAC -3'

Posted On

2013-05-23