Mutagenetix > Incidental Mutation

Incidental Mutation 'R0733:Ltn1'

67130

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

038914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87412507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 740 (I740F)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449
AA Change: I740F

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: I740F

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 benign
Transcript: ENSMUST00000232095

Meta Mutation Damage Score

0.1663

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,932	T1056S	possibly damaging	Het
Abl1	A	G	2: 31,778,945	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,752,218	I476V	possibly damaging	Het
Apba2	T	C	7: 64,750,164	I689T	probably damaging	Het
AU018091	A	G	7: 3,159,161	Y362H	probably damaging	Het
Cdh26	T	C	2: 178,486,931	S759P	probably damaging	Het
Clcc1	A	G	3: 108,674,740	Q387R	probably benign	Het
Cobl	C	T	11: 12,365,167	G259R	probably benign	Het
Col4a1	C	T	8: 11,218,934	R968Q	possibly damaging	Het
Ddr2	A	G	1: 170,004,812		probably benign	Het
Dera	C	A	6: 137,796,848	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,338,668	E659A	probably damaging	Het
Dus2	G	T	8: 106,046,070		probably null	Het
Ears2	T	A	7: 122,048,129	I311F	possibly damaging	Het
Eml4	T	A	17: 83,454,464	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,329,416	M147L	probably benign	Het
Fam171a2	T	A	11: 102,439,722	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,443,923	H155Q	probably null	Het
Fem1b	G	T	9: 62,796,843	N378K	possibly damaging	Het
Fut11	C	A	14: 20,695,359	Y119*	probably null	Het
Gatsl2	T	C	5: 134,136,215	F208L	possibly damaging	Het
Gm6797	T	C	X: 8,645,149		noncoding transcript	Het
Gstt4	T	C	10: 75,817,314	D138G	probably benign	Het
Hprt	G	A	X: 53,002,150	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,668,077		probably benign	Het
Ints6l	T	A	X: 56,501,748	S621T	probably benign	Het
Ints6l	C	G	X: 56,504,812	A699G	probably benign	Het
Kctd3	A	G	1: 188,997,050		probably benign	Het
Kntc1	G	T	5: 123,790,916	V1252L	probably null	Het
Lama5	A	T	2: 180,180,718	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,661,101	L187F	probably damaging	Het
Lrp3	A	T	7: 35,202,120	L758M	possibly damaging	Het
Mcm5	A	G	8: 75,127,248	K710R	probably benign	Het
Mllt10	A	G	2: 18,203,766		probably benign	Het
Nbr1	T	A	11: 101,576,371	M864K	probably benign	Het
Nkiras2	T	C	11: 100,624,932		probably null	Het
Nlrp4d	T	A	7: 10,382,522	E144V	probably benign	Het
Nppc	T	C	1: 86,669,634		probably benign	Het
Ormdl2	T	A	10: 128,819,999	Q94L	probably damaging	Het
Paox	G	C	7: 140,127,527	D88H	probably damaging	Het
Papd4	T	A	13: 93,155,039	Q365L	probably benign	Het
Prl7a2	T	C	13: 27,662,688	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Prss54	T	C	8: 95,559,740	D235G	possibly damaging	Het
Rwdd3	T	C	3: 121,171,607	M24V	probably benign	Het
Serpinb6e	T	A	13: 33,841,218	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,372,560	A530T	probably benign	Het
Slc28a1	T	C	7: 81,124,900	I165T	probably benign	Het
Slco6d1	T	A	1: 98,428,269	L143*	probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx27	A	G	3: 94,562,013	L7P	probably benign	Het
Spsb1	C	T	4: 149,906,917	V65I	probably benign	Het
St8sia2	C	T	7: 73,960,840	G232S	probably benign	Het
Sun1	A	G	5: 139,231,163	H255R	possibly damaging	Het
Ube2k	A	G	5: 65,581,452	I95V	probably damaging	Het
Ube2m	C	A	7: 13,035,752	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,192,188	M661K	probably benign	Het
Wdr47	A	T	3: 108,618,623	D154V	probably damaging	Het
Zfp113	A	G	5: 138,145,583	V135A	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGAGGTGGAAAGGATTATCAACCC -3'
(R):5'- TCCAGTCCCTGCTTTAGAAAGTCAGAG -3'

Sequencing Primer
(F):5'- ACCCTGCTATAAAGCTGGAGTTG -3'
(R):5'- GTTGGAGTAATGTAACCAAGCTG -3'

Posted On

2013-09-03