Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Ltn1'

544632

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 #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87423473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 245 (D245E)

Ref Sequence

ENSEMBL: ENSMUSP00000156299 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449
AA Change: D245E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: D245E

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
AA Change: D245E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,941,564	S1308P	probably damaging	Het
Abl2	A	T	1: 156,559,133	R29W	probably damaging	Het
Adam6b	C	A	12: 113,489,707	S48*	probably null	Het
Adamts18	T	A	8: 113,775,290	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,905,876	S229G	probably benign	Het
Apol10a	G	A	15: 77,484,846	R15H	possibly damaging	Het
Bend4	T	A	5: 67,398,259	T535S	probably benign	Het
Blm	T	C	7: 80,469,753	K1024R	probably benign	Het
Brca2	T	C	5: 150,539,918	V1049A	probably benign	Het
Cerk	T	C	15: 86,156,594	Y188C	possibly damaging	Het
Cic	C	T	7: 25,272,196	R451C	probably damaging	Het
Col18a1	A	T	10: 77,166,343	V10E	unknown	Het
Cplx1	T	A	5: 108,520,316	K58M	probably damaging	Het
Crybg1	T	A	10: 43,998,835	D759V	probably damaging	Het
Cwc25	A	T	11: 97,748,071	N342K	probably damaging	Het
Dab2	A	T	15: 6,435,365	T566S	probably benign	Het
Depdc5	G	A	5: 32,877,158		probably null	Het
Dip2b	T	A	15: 100,160,465	N408K	probably benign	Het
Dnah12	T	C	14: 26,876,998	I3631T	probably damaging	Het
Dnase1	A	G	16: 4,039,546	I236V	possibly damaging	Het
Duox1	C	T	2: 122,319,877	Q196*	probably null	Het
Eef2k	G	A	7: 120,891,932	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,362	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200	A1007V	probably benign	Het
Fsip2	T	A	2: 82,989,343	I5140N	possibly damaging	Het
Gan	T	C	8: 117,195,847	C440R	possibly damaging	Het
Garnl3	T	A	2: 33,054,193	H73L	possibly damaging	Het
Gid8	T	G	2: 180,713,303	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960	L39F	possibly damaging	Het
Gm5868	T	A	5: 72,586,420		probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427	S306P	probably damaging	Het
Hdac4	T	G	1: 91,968,361	K729T	possibly damaging	Het
Hist2h2be	A	G	3: 96,221,373	I70V	probably benign	Het
Igfbp2	C	T	1: 72,849,645	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,417,389	I13L	probably benign	Het
Il18r1	G	A	1: 40,474,853	S73N	probably benign	Het
Immt	T	C	6: 71,861,040	V244A	probably damaging	Het
Irs1	T	C	1: 82,288,260	Y745C	probably benign	Het
Itpr3	T	C	17: 27,110,580	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,521	I45K	probably damaging	Het
Lamp3	G	T	16: 19,655,422	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,115,458	H528Q	probably benign	Het
Mnat1	T	C	12: 73,230,705		probably benign	Het
Mpp6	C	T	6: 50,162,662	P116L	probably benign	Het
Mprip	A	C	11: 59,761,190	M1907L	probably benign	Het
Mut	T	A	17: 40,941,383	I272N	possibly damaging	Het
Nfu1	C	A	6: 87,016,272	H131Q	probably benign	Het
Nup188	T	A	2: 30,323,568	S670R	probably damaging	Het
Olfr1090	T	C	2: 86,754,681	D19G	probably benign	Het
Olfr1477	A	G	19: 13,502,675	N111D	probably benign	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pbrm1	T	A	14: 31,064,820	D631E	probably benign	Het
Prss40	A	T	1: 34,552,400		probably null	Het
Rnf13	A	G	3: 57,833,612	N274S	probably damaging	Het
Rtl1	T	A	12: 109,593,947	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,075,263	H291L	possibly damaging	Het
Senp5	A	G	16: 31,983,775	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,647,208		probably null	Het
Serpina1e	T	C	12: 103,948,079	I329V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,034		unknown	Het
Smc5	A	G	19: 23,231,883	V639A	probably benign	Het
Speg	T	A	1: 75,423,268	V2453E	probably damaging	Het
Syt2	T	A	1: 134,744,104	F207I	probably damaging	Het
Tchp	C	T	5: 114,708,796	S48L	probably benign	Het
Trim12a	A	G	7: 104,304,176	S243P	possibly damaging	Het
Ttn	T	C	2: 76,798,217	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,107,837	M188K	probably benign	Het
Vps11	G	A	9: 44,355,079	T437I	probably damaging	Het
Xrn1	C	T	9: 96,047,790	T1498I	probably benign	Het
Zfp236	A	G	18: 82,691,576		probably null	Het
Zfp316	T	C	5: 143,263,355	D175G	unknown	Het
Zmynd11	A	G	13: 9,694,330	L256P	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
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'- CAGAGGCGTAACCATCACAATG -3'
(R):5'- GCTTTAGACGCAAAGGCACAC -3'

Sequencing Primer
(F):5'- CCTGATCTACAAAGTGAGTTCCAGG -3'
(R):5'- GGCACACAAGCTAAATACATGTG -3'

Posted On

2019-05-13