Mutagenetix > Incidental Mutation

Incidental Mutation 'R8101:Ltn1'

630538

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 #

R8101 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87418497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 417 (R417W)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: R417W

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

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: R417W

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 damaging
Transcript: ENSMUST00000232095
AA Change: R417W

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,008,502	K3388E	probably damaging	Het
Aldh3b2	A	T	19: 3,978,134	Q92L	probably benign	Het
Arhgap35	A	T	7: 16,562,319	D940E	probably benign	Het
BC067074	C	T	13: 113,320,891	T1157I		Het
Birc3	A	C	9: 7,861,004	S104R	probably benign	Het
Bloc1s4	A	G	5: 36,748,141	F169L	probably benign	Het
Cacna1s	C	T	1: 136,118,665	S1725F	probably benign	Het
Cadm2	A	T	16: 66,812,842	S139R	possibly damaging	Het
Ccdc188	G	T	16: 18,218,012	R17L	probably benign	Het
Cfap54	T	C	10: 92,884,796	T2599A	unknown	Het
Ddx10	T	C	9: 53,225,520	K364R	probably damaging	Het
Dlgap2	T	C	8: 14,831,600	C891R	probably benign	Het
Dnah17	T	A	11: 118,125,918	Y269F	probably benign	Het
Dock1	A	G	7: 134,999,288	D984G	possibly damaging	Het
Dyrk4	T	A	6: 126,891,649	T297S	possibly damaging	Het
Efemp2	C	T	19: 5,476,218	Q124*	probably null	Het
Erich3	A	G	3: 154,733,513	E264G	probably damaging	Het
Fam208a	A	G	14: 27,442,481	D248G	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Got1l1	G	T	8: 27,200,302	L114I	possibly damaging	Het
Gpr139	A	G	7: 119,184,287	C30R	probably benign	Het
Gstt4	T	C	10: 75,818,514	I113V	probably benign	Het
Hmcn2	C	A	2: 31,350,070	Q458K	probably benign	Het
Hr	G	A	14: 70,567,842	S1008N	possibly damaging	Het
Kif14	C	T	1: 136,476,352	L525F	probably benign	Het
Lama1	A	T	17: 67,745,922	I417F		Het
Limd1	A	T	9: 123,500,151	K469*	probably null	Het
Lipo2	T	C	19: 33,720,994	M328V	possibly damaging	Het
Lrrk1	T	C	7: 66,342,782	S81G	probably benign	Het
Mamdc2	T	C	19: 23,334,029	D487G	probably damaging	Het
Mmp3	A	C	9: 7,446,985	K55T	probably benign	Het
Mob1b	A	G	5: 88,753,234	I167V	probably benign	Het
Mocs3	A	G	2: 168,231,881	N416S	probably damaging	Het
Mtrr	A	G	13: 68,577,621	F123S	probably damaging	Het
Muc5b	A	G	7: 141,865,175	T3953A	possibly damaging	Het
Myh7	G	A	14: 54,973,319	Q1714*	probably null	Het
Nrf1	A	G	6: 30,098,450	K114E	possibly damaging	Het
Olfr275	A	G	4: 52,825,849	T151A	probably benign	Het
Olfr288	A	T	15: 98,186,958	S280T	probably benign	Het
Olfr822	A	G	10: 130,075,006	I199V	probably benign	Het
Prob1	T	C	18: 35,653,233	D656G	possibly damaging	Het
Rbm24	A	T	13: 46,428,968	Y121F	probably benign	Het
Rbm24	C	T	13: 46,429,291	Q229*	probably null	Het
Rd3l	C	T	12: 111,980,052	V97I	probably benign	Het
Rere	G	A	4: 150,617,339	R25H	probably damaging	Het
Rgs20	T	C	1: 4,912,415	M144V	probably benign	Het
Robo1	A	G	16: 72,978,581	I665V	probably benign	Het
Slc18b1	T	C	10: 23,822,943	L339S	probably damaging	Het
Slc25a17	G	A	15: 81,338,047	L75F	probably damaging	Het
Snx29	A	G	16: 11,571,716	N226D	probably benign	Het
Tmprss11b	A	G	5: 86,664,962		probably null	Het
Tpp2	T	C	1: 43,970,440	V478A	probably damaging	Het
Unc13b	A	G	4: 43,239,918	E746G	probably benign	Het
Urb2	A	G	8: 124,028,040	E162G	probably benign	Het
Vwf	C	T	6: 125,570,559	Q198*	probably null	Het
Zhx3	T	C	2: 160,781,699	M183V	probably damaging	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
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
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'- AATCATTTGGAAGGCTAACTGC -3'
(R):5'- AAGTTTTCATTCAGCGGGATTC -3'

Sequencing Primer
(F):5'- ACACAGTGAGCTTGAGTCTTTC -3'
(R):5'- CATTCAGCGGGATTCCTTTTTAG -3'

Posted On

2020-06-30