Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Ltn1'

679162

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 #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87381493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1616 (Q1616L)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: Q1616L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: Q1616L

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: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	C	17: 56,882,218	I209L	probably benign	Het
Aadat	C	T	8: 60,540,124	T373I	possibly damaging	Het
Abca13	T	C	11: 9,291,653	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,684,341	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,812,173	N4D	possibly damaging	Het
Acad8	A	G	9: 26,999,489	M3T	probably benign	Het
Adcyap1r1	C	T	6: 55,497,095	T472I	probably damaging	Het
Ank3	A	T	10: 70,004,841	K1890N	possibly damaging	Het
Asic1	G	A	15: 99,671,945	C49Y	probably benign	Het
Atp1a1	T	C	3: 101,591,231	N215S	probably damaging	Het
C87436	A	G	6: 86,445,792	Y116C	probably damaging	Het
Car5a	T	C	8: 121,944,780	D5G	probably benign	Het
Ccdc169	T	C	3: 55,150,947		probably null	Het
Ccdc93	A	G	1: 121,499,241	R586G	probably damaging	Het
Cep295	A	G	9: 15,326,711	V131A	probably damaging	Het
Cox5a	A	G	9: 57,529,046	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,512,647	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,295,465	E390G	probably damaging	Het
Dab2	C	A	15: 6,435,790	N707K		Het
Dock10	A	T	1: 80,505,430	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,301,876		probably null	Het
Eif4a3	T	C	11: 119,299,932	D22G	probably benign	Het
Fam160a2	T	C	7: 105,388,270	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,592,464		probably null	Het
Gm10330	A	G	12: 23,779,886	L98P	probably benign	Het
Gm5108	A	G	5: 67,976,956	*102W	probably null	Het
Gpr149	A	C	3: 62,531,057	S560A	probably damaging	Het
Haspin	T	C	11: 73,136,604	D553G	probably benign	Het
Hsf1	C	T	15: 76,497,851	H104Y	probably benign	Het
Ifi203	T	C	1: 173,928,928	T430A	unknown	Het
Itih2	G	A	2: 10,098,011	Q771*	probably null	Het
Kazald1	T	A	19: 45,076,956	L92Q	probably damaging	Het
Krt19	T	C	11: 100,141,154	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,619,085	V79E	possibly damaging	Het
Mdc1	A	G	17: 35,847,951	K408E	probably benign	Het
Nalcn	A	T	14: 123,323,872	M738K	probably benign	Het
Ncoa4	T	C	14: 32,172,891	L125P	probably damaging	Het
Ncor2	G	T	5: 125,029,189	R810S		Het
Neb	C	T	2: 52,237,129	G348D		Het
Nfat5	T	A	8: 107,368,596	F1156L	probably damaging	Het
Oit3	G	A	10: 59,441,646	T13I	unknown	Het
Olfr1135	A	C	2: 87,672,223	L48W	probably damaging	Het
Olfr1404	T	C	1: 173,216,497	I282T	probably damaging	Het
Olfr490	A	G	7: 108,287,082	F15L	probably damaging	Het
Olfr552	T	A	7: 102,604,504	I50N	probably damaging	Het
Olfr785	G	T	10: 129,410,213	M282I	probably benign	Het
Opa1	A	C	16: 29,605,522	Q230P	probably damaging	Het
Papd7	G	T	13: 69,503,709	T531N	possibly damaging	Het
Parpbp	T	C	10: 88,110,327	H410R	probably null	Het
Pex5l	A	G	3: 32,953,184	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,166,399	R344L	probably benign	Het
Prrc2b	T	C	2: 32,214,941	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,845,152	G94S	possibly damaging	Het
Ptprk	T	A	10: 28,483,207	Y598*	probably null	Het
Rfx5	C	A	3: 94,957,164	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,162,890	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,337,986	V92A	probably benign	Het
Shank2	C	A	7: 144,411,528	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,195	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,814,540	E1084D	probably benign	Het
Smurf1	T	A	5: 144,883,612	R549*	probably null	Het
Sprr2b	T	C	3: 92,317,725	C93R	unknown	Het
Tcn2	G	T	11: 3,923,569	S259Y	probably damaging	Het
Tex43	T	C	18: 56,592,465	F66L	probably damaging	Het
Tle1	A	G	4: 72,158,288	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 145,223,580	G264D	probably damaging	Het
Tnks2	T	A	19: 36,845,688	N118K	probably damaging	Het
Topaz1	G	T	9: 122,797,865		probably benign	Het
Traf3ip1	A	G	1: 91,516,074		probably benign	Het
Ttk	A	G	9: 83,839,269	E69G	probably damaging	Het
Tulp3	T	C	6: 128,334,003	D87G	probably benign	Het
Usp38	C	T	8: 80,981,850	G1033D	probably damaging	Het
Usp44	T	A	10: 93,857,913	N707K	probably benign	Het
Vipas39	T	A	12: 87,259,084	R112*	probably null	Het
Vmn1r185	A	C	7: 26,611,781	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,806,053	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863	T148I	probably benign	Het
Wdr41	G	A	13: 95,015,112	R260H	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Wnk2	A	T	13: 49,068,235	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,305,257	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,001,654	N18D	possibly 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
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
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'- GTCCAGAGTAACACAGAGTAGTC -3'
(R):5'- GCACATGTATCACTAACCTGGG -3'

Sequencing Primer
(F):5'- CACAGAGTAGTCAGAAAATGAGGTTG -3'
(R):5'- CACATGTATCACTAACCTGGGATTTG -3'

Posted On

2021-08-02