Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Ltn1'

593419

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 #

R7691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87398686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1317 (H1317Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: H1317Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: H1317Q

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,796,238	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,206,540	V782A	probably benign	Het
Arhgef17	G	A	7: 100,929,642	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,492,610		probably null	Het
Bach2	A	G	4: 32,580,271	E832G	probably damaging	Het
Brpf3	G	C	17: 28,806,831	A293P	probably damaging	Het
Cacfd1	T	C	2: 27,010,094	L36P	probably damaging	Het
Camsap2	T	C	1: 136,293,004	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,583,201	Q201L	probably benign	Het
Cdan1	A	G	2: 120,729,567	V372A	probably damaging	Het
Cenpf	C	A	1: 189,658,207	E1143*	probably null	Het
Colgalt1	A	T	8: 71,620,754	M340L	probably benign	Het
Crybg3	A	G	16: 59,556,134	Y1586H	not run	Het
Csmd3	A	G	15: 47,741,173	I1058T		Het
Dock1	G	A	7: 135,138,157		probably null	Het
Dzank1	G	A	2: 144,506,171	T225I	probably damaging	Het
Eif3c	G	A	7: 126,551,990	R721W	possibly damaging	Het
Fdps	A	G	3: 89,099,367	V72A	probably benign	Het
Filip1l	A	G	16: 57,572,433	N1128S	probably benign	Het
Fmnl2	T	A	2: 53,101,498	Y342N	unknown	Het
Gria1	A	T	11: 57,236,987	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,893,791	S303I	probably damaging	Het
Herc2	C	T	7: 56,191,845	P3491S	probably benign	Het
Hspb11	A	G	4: 107,273,689	I59V	probably benign	Het
Lama2	T	C	10: 27,208,393	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,534	M253T	probably damaging	Het
Map6	C	T	7: 99,336,292	L671F	possibly damaging	Het
Mki67	C	T	7: 135,701,992	V716I	not run	Het
Mllt10	A	G	2: 18,203,611	S694G	possibly damaging	Het
Mllt10	G	C	2: 18,203,612	S694T	probably null	Het
Mtcl1	A	G	17: 66,380,357	L518S	probably damaging	Het
Olfr1368	G	A	13: 21,142,970	A29V	probably benign	Het
Pcdh10	G	T	3: 45,381,197	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,061,268	T39M	probably benign	Het
Pls1	T	C	9: 95,773,673	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819	V235I	probably benign	Het
Rhobtb3	A	T	13: 75,878,937	V439E	probably damaging	Het
Sept8	A	G	11: 53,537,587	T355A	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Ssc5d	C	T	7: 4,944,169	T1174I	probably benign	Het
Sspo	A	T	6: 48,484,229	T3535S	probably benign	Het
Stk39	A	G	2: 68,471,639	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,735,284	I123V	probably benign	Het
Sv2a	A	T	3: 96,188,411	I348F	probably benign	Het
Taar8b	T	A	10: 24,091,538	R253*	probably null	Het
Tbc1d4	T	C	14: 101,507,641	K183R	probably damaging	Het
Tet2	T	A	3: 133,486,849	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,194,024	T16S	possibly damaging	Het
Togaram2	A	G	17: 71,716,410	T774A	probably benign	Het
Tshr	C	A	12: 91,497,741	A87E	probably benign	Het
Tsn	T	C	1: 118,309,775	D53G	probably benign	Het
Usp37	TC	T	1: 74,486,760		probably null	Het
Vav2	T	A	2: 27,297,738		probably null	Het
Vmn2r52	T	A	7: 10,159,182	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,943,643	Y452F	probably benign	Het
Vmn2r79	A	G	7: 87,037,903	R831G	probably damaging	Het
Zfp821	T	C	8: 109,721,239	S71P	probably damaging	Het
Zwilch	T	A	9: 64,156,091	I286F	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
R7511:Ltn1	UTSW	16	87408828	missense	possibly damaging	0.63
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'- GCTCTAGTGCTGTACTCTGCTG -3'
(R):5'- GAGAACCAGGCTCTGTACTCTG -3'

Sequencing Primer
(F):5'- GTATTGGTTTCTCAATACCAAGCC -3'
(R):5'- TGTTCCACTTGTGCAGCTG -3'

Posted On

2019-11-12