Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Ltn1'

46159

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

038756-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87416010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 554 (K554N)

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: K554N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: K554N

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

noncoding transcript
Transcript: ENSMUST00000083713

Predicted Effect

probably benign
Transcript: ENSMUST00000232095
AA Change: K554N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,864,336	H1010L	probably benign	Het
A2ml1	C	A	6: 128,568,743	E474*	probably null	Het
Agtr1b	T	C	3: 20,315,674	H256R	probably damaging	Het
Amacr	C	T	15: 10,981,946	A46V	possibly damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Caskin2	T	C	11: 115,801,016	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,461,042		probably benign	Het
Cd180	A	G	13: 102,702,874		probably benign	Het
Cemip	G	A	7: 83,964,110	H627Y	probably damaging	Het
Cep131	G	T	11: 120,073,762	H289Q	probably damaging	Het
Cep350	G	A	1: 155,961,195		probably benign	Het
Cfap52	A	T	11: 67,949,599	C169S	probably benign	Het
Cps1	A	T	1: 67,166,449	T544S	possibly damaging	Het
Cul7	T	C	17: 46,652,003	S187P	probably damaging	Het
Dhx40	C	A	11: 86,771,167	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,306,917	Q174K	probably benign	Het
Efna5	T	C	17: 62,881,036	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,607,889	H176R	probably benign	Het
Exoc3	A	G	13: 74,182,275		probably null	Het
Fam135b	T	A	15: 71,490,837	N232Y	possibly damaging	Het
Fam214b	A	T	4: 43,034,647		probably benign	Het
Fndc9	C	T	11: 46,238,157	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,624,021	A286V	probably damaging	Het
Gm609	T	A	16: 45,444,173		probably benign	Het
Immt	T	A	6: 71,846,483		probably benign	Het
Ipo7	T	C	7: 110,049,593		probably benign	Het
Ipo8	A	T	6: 148,786,723	L747H	probably damaging	Het
Ireb2	A	T	9: 54,899,983	N610Y	probably damaging	Het
Irs2	A	G	8: 11,004,592	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,595,264	M458K	probably benign	Het
Kl	A	G	5: 150,980,944	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,684,286		probably benign	Het
Lamb1	A	C	12: 31,298,915	I649L	probably benign	Het
Lipm	A	C	19: 34,116,506	L274F	probably benign	Het
Lrfn3	A	G	7: 30,360,791	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,607,028	D223A	probably damaging	Het
Mertk	T	C	2: 128,771,483	I473T	probably benign	Het
Mfsd12	C	A	10: 81,361,409	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705	D89G	probably damaging	Het
Myo5a	T	A	9: 75,180,112	N1083K	probably benign	Het
Ncapd3	C	T	9: 27,087,998	A1290V	probably benign	Het
Nefm	A	G	14: 68,124,621	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,897,625	R220H	probably damaging	Het
Olfr1189	T	A	2: 88,592,009	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,759,444	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,320,767	S67P	possibly damaging	Het
Per3	A	T	4: 151,033,952	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,980,117		probably benign	Het
Ppp1r15b	G	T	1: 133,136,653		probably benign	Het
Psmd2	G	T	16: 20,660,426	L678F	probably null	Het
Ptch2	A	G	4: 117,106,143		probably benign	Het
Ranbp2	T	A	10: 58,476,336	D959E	probably benign	Het
Rph3al	C	T	11: 75,833,401		probably null	Het
Sec31b	T	A	19: 44,524,553	E499V	probably damaging	Het
Sel1l	T	C	12: 91,811,889	I667M	probably benign	Het
Sel1l	C	A	12: 91,813,945	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,352,069	I123F	probably damaging	Het
Smarca2	G	A	19: 26,681,875	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,536,358		probably benign	Het
Spink12	C	A	18: 44,104,688	S11*	probably null	Het
Sstr2	A	T	11: 113,625,619	I342F	probably benign	Het
Stxbp1	T	C	2: 32,819,848	T78A	probably benign	Het
Trim11	T	A	11: 58,990,584	S434R	probably damaging	Het
Ubr2	T	C	17: 46,955,886	E1113G	probably damaging	Het
Upb1	T	A	10: 75,428,354		probably benign	Het
Vit	T	A	17: 78,624,837	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,411,166	I22V	probably benign	Het
Vps25	T	C	11: 101,258,905		probably benign	Het
Wbp2	G	T	11: 116,082,385	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,217,306	D980G	probably benign	Het
Xkr8	A	C	4: 132,730,917		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
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
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

Predicted Primers

PCR Primer
(F):5'- TCACAGCATCGGAGGGCACTATAC -3'
(R):5'- CCAGCCAGAAGCAGATGTGAAGTC -3'

Sequencing Primer
(F):5'- GAGGGCACTATACAAGATGTCCAC -3'
(R):5'- AGCAGATGTGAAGTCCGTTC -3'

Posted On

2013-06-11