Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Ltn1'

60683

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

038441-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0165 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

87173539-87229500 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 87202407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,924 (GRCm39)	I717T	possibly damaging	Het
6430571L13Rik	A	G	9: 107,223,383 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,950,126 (GRCm39)		probably benign	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,558,499 (GRCm39)		probably benign	Het
Agap3	A	G	5: 24,684,743 (GRCm39)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,517,445 (GRCm39)	S459P	probably benign	Het
Armh4	A	G	14: 50,011,243 (GRCm39)	S155P	probably benign	Het
Ascc3	T	A	10: 50,718,223 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,613,980 (GRCm39)	N305S	probably damaging	Het
Catip	T	A	1: 74,407,628 (GRCm39)	L320Q	possibly damaging	Het
Cplane1	G	A	15: 8,245,866 (GRCm39)	V1413M	probably damaging	Het
Cttnbp2	G	A	6: 18,435,409 (GRCm39)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,257,481 (GRCm39)	N228T	probably benign	Het
Dapk1	T	C	13: 60,909,407 (GRCm39)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Ddhd1	G	A	14: 45,833,049 (GRCm39)	T849M	probably damaging	Het
Dnah6	A	G	6: 72,998,306 (GRCm39)	S3987P	probably benign	Het
Dst	C	A	1: 34,193,727 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,049,203 (GRCm39)		probably null	Het
Ern2	T	C	7: 121,779,002 (GRCm39)	T281A	probably benign	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Gckr	A	G	5: 31,484,292 (GRCm39)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,293,419 (GRCm39)		probably null	Het
Gm7535	T	C	17: 18,131,437 (GRCm39)		probably benign	Het
Gmps	T	A	3: 63,901,375 (GRCm39)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,917,414 (GRCm39)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 110,401,998 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,657,867 (GRCm39)	I1934F	probably damaging	Het
Lars1	A	T	18: 42,335,762 (GRCm39)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,553,514 (GRCm39)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,111,739 (GRCm39)	T537K	probably damaging	Het
Meiob	A	G	17: 25,054,135 (GRCm39)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,250,283 (GRCm39)	T41M	probably damaging	Het
Miga1	C	T	3: 151,996,480 (GRCm39)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,198,907 (GRCm39)		probably null	Het
Or5p62	T	C	7: 107,771,882 (GRCm39)	D23G	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,540,208 (GRCm39)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,381,434 (GRCm39)		probably benign	Het
Prune2	T	A	19: 17,099,974 (GRCm39)	M1826K	probably benign	Het
Qki	T	A	17: 10,457,892 (GRCm39)	D159V	probably damaging	Het
Rab12	A	T	17: 66,807,312 (GRCm39)	I139N	probably damaging	Het
Rab25	T	A	3: 88,455,362 (GRCm39)	E7D	probably benign	Het
Rala	A	T	13: 18,063,174 (GRCm39)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,230,407 (GRCm39)		probably benign	Het
Rbl2	T	A	8: 91,800,804 (GRCm39)	Y89N	probably damaging	Het
Rho	A	T	6: 115,909,188 (GRCm39)	I75F	probably damaging	Het
Slc38a4	C	A	15: 96,906,830 (GRCm39)	A303S	probably benign	Het
Slc6a15	A	G	10: 103,245,670 (GRCm39)	D551G	probably null	Het
Smyd3	T	C	1: 178,871,437 (GRCm39)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,684,512 (GRCm39)	L180*	probably null	Het
Stat6	T	C	10: 127,493,096 (GRCm39)	V576A	probably damaging	Het
Strn	T	C	17: 78,984,803 (GRCm39)	D127G	possibly damaging	Het
Syne1	T	C	10: 4,983,096 (GRCm39)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,306,678 (GRCm39)		probably null	Het
Tcf3	C	T	10: 80,248,831 (GRCm39)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,103,286 (GRCm39)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,866,020 (GRCm39)		probably benign	Het
Tmprss11c	A	T	5: 86,379,786 (GRCm39)		probably benign	Het
Tnfsf18	A	G	1: 161,322,300 (GRCm39)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,742,871 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,639,433 (GRCm39)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,789,864 (GRCm39)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,551,686 (GRCm39)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,683,460 (GRCm39)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vwce	T	C	19: 10,637,337 (GRCm39)		probably benign	Het
Wdhd1	A	G	14: 47,504,525 (GRCm39)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,752,604 (GRCm39)	S560P	probably damaging	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
R0280:Ltn1	UTSW	16	87,194,726 (GRCm39)	missense	probably damaging	1.00
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'- ACTCATAGCTACAACATTGCAGGTGC -3'
(R):5'- AGTTGCAGAGCTGCTGTATTCACTG -3'

Sequencing Primer
(F):5'- aaagtcgccctctgctg -3'
(R):5'- TGCAGTGGTGTGAAGAACTC -3'

Posted On

2013-07-24