Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Ltn1'

363620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltn1

Ensembl Gene

ENSMUSG00000052299

Gene Name

listerin E3 ubiquitin protein ligase 1

Synonyms

4930528H02Rik, Rnf160, Zfp294, Listerin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87379805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1704 (N1704K)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039449
AA Change: N1704K

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: N1704K

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 86,046,365	V135F	possibly damaging	Het
Aatk	T	C	11: 120,011,777	T541A	probably benign	Het
Abcc1	T	C	16: 14,423,127	L516P	probably damaging	Het
Actl6a	T	A	3: 32,722,642	V350E	possibly damaging	Het
Afm	A	G	5: 90,526,363	K245E	possibly damaging	Het
Agr3	T	C	12: 35,946,916	V63A	probably damaging	Het
Arhgef28	A	T	13: 97,946,875	M1162K	probably damaging	Het
BC003331	C	A	1: 150,384,428		probably null	Het
Casq2	T	A	3: 102,086,797	C53*	probably null	Het
Ccdc181	T	C	1: 164,279,901	V51A	probably benign	Het
Cd101	A	G	3: 101,018,994		probably benign	Het
Csdc2	T	C	15: 81,948,600	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,021,558		probably benign	Het
Dnph1	A	G	17: 46,498,501		probably benign	Het
Egf	T	C	3: 129,681,147	T1124A	probably benign	Het
Gm13089	A	G	4: 143,698,343	C177R	probably damaging	Het
Gpr45	A	G	1: 43,033,211	E338G	possibly damaging	Het
Grb14	A	C	2: 64,938,418	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,118,917	S77G	possibly damaging	Het
Helb	A	G	10: 120,089,485	S996P	probably benign	Het
Huwe1	A	G	X: 151,886,766	E1405G	probably damaging	Het
Ifi47	T	C	11: 49,095,790	I128T	probably benign	Het
Ift140	T	A	17: 25,090,762	Y1089N	probably damaging	Het
Il1r1	A	T	1: 40,302,409	H324L	probably benign	Het
Irx1	C	T	13: 71,959,855	R236H	probably benign	Het
Itpr3	T	C	17: 27,104,556	V1185A	probably benign	Het
Kif19a	T	C	11: 114,785,570	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,403,558	Y65*	probably null	Het
Med1	T	C	11: 98,156,509		probably benign	Het
Meis2	T	A	2: 116,063,323	H36L	probably damaging	Het
Mier2	T	C	10: 79,549,622	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,170		probably null	Het
Muc4	A	G	16: 32,750,394	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,289,401	V935E	probably benign	Het
Ndufa7	T	C	17: 33,829,658		probably benign	Het
Nipal1	A	G	5: 72,668,062	E366G	possibly damaging	Het
Nobox	A	T	6: 43,305,683	N263K	probably benign	Het
Notch2	A	G	3: 98,111,574	D684G	probably damaging	Het
Olfr1136	T	C	2: 87,693,000	N294S	probably damaging	Het
Olfr1255	T	A	2: 89,817,164	Y273*	probably null	Het
Olfr303	T	C	7: 86,394,535		probably benign	Het
Olfr31	A	G	14: 14,328,789	H226R	probably benign	Het
Olfr494	C	A	7: 108,368,129	T213K	probably damaging	Het
Plau	A	C	14: 20,839,897	D270A	possibly damaging	Het
Pof1b	T	C	X: 112,649,112		probably null	Het
Prtn3	A	T	10: 79,881,933		probably null	Het
Ptges3	T	A	10: 128,068,747	D26E	probably benign	Het
Pxmp2	T	C	5: 110,281,294	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,083,107	R106G	probably benign	Het
Rnf208	T	C	2: 25,243,762	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,871,981	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,832,255		probably null	Het
Rsbn1	G	T	3: 103,953,656	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,342,716	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,518,222	D531N	probably benign	Het
Sox13	A	G	1: 133,389,466	L143P	probably damaging	Het
Stx2	C	T	5: 128,992,221	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,793,087		probably benign	Het
Ttc26	A	C	6: 38,425,162	S530R	probably benign	Het
Tubgcp5	C	T	7: 55,806,607	Q316*	probably null	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unc5d	G	A	8: 28,875,606	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,406,916	I126V	probably benign	Het
Zfp410	T	A	12: 84,331,820		probably null	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
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
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

Posted On

2015-12-18