Mutagenetix > Incidental Mutation

Incidental Mutation 'R8142:Ltn1'

632608

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

067570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8142 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87173539-87229500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87178529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1567 (S1567A)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449
AA Change: S1567A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: S1567A

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1e2	A	T	17: 87,252,083 (GRCm39)	I105N	possibly damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,909,465 (GRCm39)	S980P	probably damaging	Het
Ccno	T	G	13: 113,125,489 (GRCm39)	L151R	probably damaging	Het
Cdh2	A	C	18: 16,734,791 (GRCm39)	I801S	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dab1	T	A	4: 104,535,921 (GRCm39)	V110D	probably damaging	Het
Dnah3	T	C	7: 119,660,189 (GRCm39)	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,519 (GRCm39)	V3088L	probably benign	Het
Dtd2	T	A	12: 52,046,593 (GRCm39)	D82V	probably damaging	Het
Dusp5	T	C	19: 53,525,912 (GRCm39)	F185L	probably damaging	Het
Epha10	A	G	4: 124,779,639 (GRCm39)	T162A	probably damaging	Het
Fat4	A	T	3: 38,945,352 (GRCm39)	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,813,247 (GRCm39)	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,122,782 (GRCm39)	E1651*	probably null	Het
Ifit3	G	T	19: 34,564,901 (GRCm39)	C149F	probably damaging	Het
Lepr	C	A	4: 101,622,616 (GRCm39)	H465Q	possibly damaging	Het
Marchf1	T	C	8: 66,908,778 (GRCm39)	V166A	probably benign	Het
Marveld2	T	C	13: 100,737,448 (GRCm39)	H424R	possibly damaging	Het
Mypop	A	G	7: 18,735,051 (GRCm39)	T383A	unknown	Het
Ngef	G	C	1: 87,468,463 (GRCm39)	R99G	probably benign	Het
Nherf4	A	G	9: 44,162,078 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,109,398 (GRCm39)	A726D	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,519 (GRCm39)	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,854,166 (GRCm39)	D187G	probably damaging	Het
Per2	T	C	1: 91,349,269 (GRCm39)	E1034G	possibly damaging	Het
Pira1	A	G	7: 3,739,842 (GRCm39)	S418P	possibly damaging	Het
Pkhd1l1	G	A	15: 44,378,327 (GRCm39)	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239 (GRCm39)	V260D	probably benign	Het
Rnase13	A	G	14: 52,159,893 (GRCm39)	I82T	probably damaging	Het
Sbno1	A	G	5: 124,546,608 (GRCm39)	S194P	probably benign	Het
Serpinb6c	T	A	13: 34,064,096 (GRCm39)	I320L	probably benign	Het
Sh3rf3	C	T	10: 58,885,205 (GRCm39)	R363*	probably null	Het
Slc11a1	T	C	1: 74,424,418 (GRCm39)	F500L	probably benign	Het
Slc1a4	A	G	11: 20,257,890 (GRCm39)		probably null	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Sorcs2	T	C	5: 36,219,958 (GRCm39)	N362S	possibly damaging	Het
Stau2	A	G	1: 16,530,575 (GRCm39)	S115P	unknown	Het
Stk38l	A	G	6: 146,660,070 (GRCm39)	N34S	probably benign	Het
Tmem201	T	C	4: 149,803,114 (GRCm39)	T585A	probably benign	Het
Ttc6	A	T	12: 57,744,258 (GRCm39)	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,532,655 (GRCm39)	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,651,564 (GRCm39)	I293V		Het
Vps11	T	C	9: 44,265,852 (GRCm39)	T476A	probably benign	Het
Vrtn	T	C	12: 84,697,395 (GRCm39)	L715P	probably damaging	Het
Wdr72	T	G	9: 74,046,949 (GRCm39)	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,752,675 (GRCm39)	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,302,493 (GRCm39)	S16*	probably null	Het
Zfhx2	G	A	14: 55,310,895 (GRCm39)	L600F	possibly 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
R0165: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
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'- TCCAGAGTAACACAGAGTAGTCAG -3'
(R):5'- TGGATGCTAACCCTCTTGGAG -3'

Sequencing Primer
(F):5'- ACCGTCATGCCATTGAATAGCTG -3'
(R):5'- AGGTGGGGGCCTTTCTC -3'

Posted On

2020-06-30