Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Ltn1'

554795

Institutional Source

Beutler Lab

Gene Symbol

Ltn1

Ensembl Gene

ENSMUSG00000052299

Gene Name

listerin E3 ubiquitin protein ligase 1

Synonyms

Listerin, Zfp294, Rnf160, 4930528H02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4366001 (G1)

Quality Score

135.008

Status

Not validated

Chromosome

Chromosomal Location

87173539-87229500 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87177728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1634 (R1634*)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably null
Transcript: ENSMUST00000039449
AA Change: R1634*

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: R1634*

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: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,786 (GRCm39)	S870I	possibly damaging	Het
Abca13	T	C	11: 9,244,962 (GRCm39)	V2275A	probably benign	Het
Abcb5	T	C	12: 118,899,833 (GRCm39)	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,858,109 (GRCm39)		probably benign	Het
Add3	C	T	19: 53,205,298 (GRCm39)	P16L	unknown	Het
Akap9	T	A	5: 4,096,221 (GRCm39)	D2365E	probably benign	Het
Asah1	A	G	8: 41,796,783 (GRCm39)	S300P	possibly damaging	Het
Astn1	A	T	1: 158,424,779 (GRCm39)	H655L	probably benign	Het
Astn1	A	T	1: 158,424,781 (GRCm39)	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,586,224 (GRCm39)	T13S	probably benign	Het
Camsap2	A	G	1: 136,208,055 (GRCm39)	F478L		Het
Card10	G	A	15: 78,671,631 (GRCm39)	S611L	probably benign	Het
Cep68	T	C	11: 20,190,007 (GRCm39)	N335S	probably benign	Het
Chac1	T	C	2: 119,181,986 (GRCm39)	W35R	probably damaging	Het
Cntn6	T	C	6: 104,809,498 (GRCm39)	V511A	probably benign	Het
Cpne9	G	T	6: 113,271,707 (GRCm39)	G356W	probably damaging	Het
Dnah10	C	A	5: 124,852,588 (GRCm39)	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,573,438 (GRCm39)	N239D	probably benign	Het
Dock5	T	C	14: 68,062,123 (GRCm39)	K415R	possibly damaging	Het
Dtd2	C	A	12: 52,046,582 (GRCm39)	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,473,608 (GRCm39)	F127S	probably damaging	Het
Ermp1	T	C	19: 29,606,189 (GRCm39)	H375R	probably benign	Het
Frem2	A	T	3: 53,560,622 (GRCm39)	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,248,712 (GRCm39)	I325R	probably benign	Het
Gpr179	T	C	11: 97,227,677 (GRCm39)	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,226,214 (GRCm39)	E234V	probably null	Het
Itpr1	T	A	6: 108,470,718 (GRCm39)	C2215*	probably null	Het
Lynx1	A	T	15: 74,623,258 (GRCm39)	M58K	possibly damaging	Het
Macc1	T	C	12: 119,410,684 (GRCm39)	V484A	probably benign	Het
Map3k9	C	T	12: 81,819,535 (GRCm39)	V240M	possibly damaging	Het
Mars1	A	G	10: 127,135,267 (GRCm39)	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,540,826 (GRCm39)	M156V	probably benign	Het
Mchr1	G	T	15: 81,121,417 (GRCm39)	V56L	probably benign	Het
Mlxip	C	T	5: 123,533,173 (GRCm39)	P61S	probably benign	Het
Mtarc1	A	G	1: 184,539,383 (GRCm39)	F96S	probably benign	Het
Muc4	A	G	16: 32,575,542 (GRCm39)	T1557A	unknown	Het
Myt1	T	C	2: 181,467,731 (GRCm39)	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215 (GRCm39)	S76T	probably benign	Het
Ntrk2	A	G	13: 59,208,149 (GRCm39)	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,340,901 (GRCm39)	R215S	unknown	Het
Or10x1	T	C	1: 174,196,656 (GRCm39)	Y58H	probably damaging	Het
Or5m10b	T	C	2: 85,699,226 (GRCm39)	C97R	probably damaging	Het
Or5m8	A	T	2: 85,822,385 (GRCm39)	N75Y	probably damaging	Het
Or5w1b	C	T	2: 87,475,534 (GRCm39)	W311*	probably null	Het
Perm1	G	T	4: 156,303,192 (GRCm39)	V579L	probably benign	Het
Phyhipl	A	G	10: 70,404,788 (GRCm39)	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,144,842 (GRCm39)	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,309,268 (GRCm39)	T213P	probably damaging	Het
Pomt2	A	T	12: 87,163,303 (GRCm39)		probably null	Het
Ptcd1	A	G	5: 145,088,145 (GRCm39)	V622A	probably benign	Het
Ptn	T	A	6: 36,718,284 (GRCm39)	H127L	probably benign	Het
Ptprk	A	T	10: 28,462,015 (GRCm39)	M1193L	probably benign	Het
Ptpru	G	A	4: 131,527,023 (GRCm39)	P650S	probably benign	Het
Pum2	T	A	12: 8,783,390 (GRCm39)	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,582,446 (GRCm39)	T1458A	probably damaging	Het
Sap130	C	T	18: 31,810,462 (GRCm39)	A470V	probably benign	Het
Sertad2	C	A	11: 20,598,116 (GRCm39)	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,814,414 (GRCm39)	M324L	unknown	Het
Sh3bp4	A	G	1: 89,073,156 (GRCm39)	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653 (GRCm39)	D410E	probably benign	Het
Spata31	C	A	13: 65,069,319 (GRCm39)	S489*	probably null	Het
Taok3	T	A	5: 117,366,050 (GRCm39)	M367K	probably benign	Het
Tfap2a	T	C	13: 40,874,850 (GRCm39)	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,877,867 (GRCm39)	L279F	possibly damaging	Het
Tmpo	A	G	10: 90,999,172 (GRCm39)	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,023,517 (GRCm39)	I218L	probably benign	Het
Tti2	A	G	8: 31,641,224 (GRCm39)	E116G	probably benign	Het
Vmn2r59	A	T	7: 41,695,205 (GRCm39)	N402K	possibly damaging	Het

Other mutations in Ltn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Ltn1	APN	16	87,215,378 (GRCm39)	missense	probably benign	0.03
IGL01139:Ltn1	APN	16	87,212,897 (GRCm39)	missense	probably benign	0.04
IGL01359:Ltn1	APN	16	87,202,581 (GRCm39)	splice site	probably benign
IGL01503:Ltn1	APN	16	87,217,695 (GRCm39)	critical splice donor site	probably benign
IGL01529:Ltn1	APN	16	87,178,359 (GRCm39)	missense	probably benign	0.00
IGL02437:Ltn1	APN	16	87,194,889 (GRCm39)	missense	probably benign	0.04
IGL02658:Ltn1	APN	16	87,212,662 (GRCm39)	missense	probably damaging	1.00
IGL02890:Ltn1	APN	16	87,206,185 (GRCm39)	splice site	probably null
IGL02899:Ltn1	APN	16	87,179,547 (GRCm39)	missense	probably benign	0.34
IGL02902:Ltn1	APN	16	87,176,693 (GRCm39)	missense	possibly damaging	0.70
IGL03128:Ltn1	APN	16	87,212,832 (GRCm39)	missense	probably benign	0.00
IGL03392:Ltn1	APN	16	87,222,499 (GRCm39)	missense	probably damaging	1.00
IGL03046:Ltn1	UTSW	16	87,202,509 (GRCm39)	missense	probably benign	0.10
PIT4305001:Ltn1	UTSW	16	87,217,211 (GRCm39)	missense	probably damaging	1.00
R0126:Ltn1	UTSW	16	87,222,528 (GRCm39)	missense	probably benign	0.00
R0164:Ltn1	UTSW	16	87,202,407 (GRCm39)	splice site	probably benign
R0165:Ltn1	UTSW	16	87,202,407 (GRCm39)	splice site	probably benign
R0280:Ltn1	UTSW	16	87,194,726 (GRCm39)	missense	probably damaging	1.00
R0565:Ltn1	UTSW	16	87,212,898 (GRCm39)	missense	probably benign	0.01
R0733:Ltn1	UTSW	16	87,209,395 (GRCm39)	missense	probably benign	0.01
R1034:Ltn1	UTSW	16	87,194,025 (GRCm39)	splice site	probably null
R1252:Ltn1	UTSW	16	87,212,918 (GRCm39)	missense	probably benign	0.00
R1524:Ltn1	UTSW	16	87,178,444 (GRCm39)	missense	probably damaging	1.00
R1746:Ltn1	UTSW	16	87,208,669 (GRCm39)	missense	possibly damaging	0.86
R1826:Ltn1	UTSW	16	87,212,504 (GRCm39)	missense	probably damaging	1.00
R1831:Ltn1	UTSW	16	87,197,034 (GRCm39)	missense	possibly damaging	0.94
R1839:Ltn1	UTSW	16	87,213,152 (GRCm39)	nonsense	probably null
R1860:Ltn1	UTSW	16	87,213,231 (GRCm39)	missense	probably benign	0.06
R1997:Ltn1	UTSW	16	87,178,525 (GRCm39)	missense	probably damaging	1.00
R2109:Ltn1	UTSW	16	87,212,530 (GRCm39)	missense	probably benign	0.03
R2134:Ltn1	UTSW	16	87,179,601 (GRCm39)	missense	probably damaging	1.00
R2135:Ltn1	UTSW	16	87,179,601 (GRCm39)	missense	probably damaging	1.00
R2193:Ltn1	UTSW	16	87,224,535 (GRCm39)	missense	probably damaging	1.00
R2307:Ltn1	UTSW	16	87,229,312 (GRCm39)	critical splice donor site	probably null
R2376:Ltn1	UTSW	16	87,217,695 (GRCm39)	critical splice donor site	probably null
R3054:Ltn1	UTSW	16	87,200,961 (GRCm39)	missense	probably benign	0.32
R3404:Ltn1	UTSW	16	87,213,103 (GRCm39)	missense	probably damaging	0.98
R3405:Ltn1	UTSW	16	87,213,103 (GRCm39)	missense	probably damaging	0.98
R3618:Ltn1	UTSW	16	87,217,787 (GRCm39)	missense	probably damaging	1.00
R4065:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4066:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4067:Ltn1	UTSW	16	87,213,118 (GRCm39)	missense	possibly damaging	0.84
R4288:Ltn1	UTSW	16	87,194,876 (GRCm39)	missense	possibly damaging	0.57
R4436:Ltn1	UTSW	16	87,202,502 (GRCm39)	missense	probably benign	0.17
R4535:Ltn1	UTSW	16	87,223,174 (GRCm39)	missense	probably damaging	1.00
R4581:Ltn1	UTSW	16	87,198,912 (GRCm39)	critical splice donor site	probably null
R4669:Ltn1	UTSW	16	87,215,375 (GRCm39)	missense	possibly damaging	0.90
R4715:Ltn1	UTSW	16	87,215,382 (GRCm39)	missense	probably damaging	0.98
R4830:Ltn1	UTSW	16	87,176,582 (GRCm39)	missense	probably damaging	1.00
R4887:Ltn1	UTSW	16	87,195,697 (GRCm39)	nonsense	probably null
R4961:Ltn1	UTSW	16	87,194,679 (GRCm39)	missense	probably benign
R4992:Ltn1	UTSW	16	87,202,475 (GRCm39)	missense	possibly damaging	0.70
R5073:Ltn1	UTSW	16	87,224,628 (GRCm39)	missense	probably damaging	0.99
R5288:Ltn1	UTSW	16	87,212,899 (GRCm39)	missense	possibly damaging	0.80
R5802:Ltn1	UTSW	16	87,212,569 (GRCm39)	missense	probably benign	0.17
R5907:Ltn1	UTSW	16	87,178,391 (GRCm39)	missense	possibly damaging	0.94
R6180:Ltn1	UTSW	16	87,224,677 (GRCm39)	missense	probably damaging	1.00
R6194:Ltn1	UTSW	16	87,212,698 (GRCm39)	missense	probably damaging	1.00
R6257:Ltn1	UTSW	16	87,208,662 (GRCm39)	missense	possibly damaging	0.74
R6301:Ltn1	UTSW	16	87,217,194 (GRCm39)	missense	probably benign
R6481:Ltn1	UTSW	16	87,175,868 (GRCm39)	missense	probably damaging	1.00
R6525:Ltn1	UTSW	16	87,217,074 (GRCm39)	missense	probably damaging	1.00
R6958:Ltn1	UTSW	16	87,194,679 (GRCm39)	missense	probably benign
R6969:Ltn1	UTSW	16	87,212,578 (GRCm39)	missense	probably damaging	1.00
R7002:Ltn1	UTSW	16	87,220,361 (GRCm39)	missense	probably benign
R7038:Ltn1	UTSW	16	87,221,759 (GRCm39)	missense	probably damaging	1.00
R7062:Ltn1	UTSW	16	87,224,491 (GRCm39)	missense	probably damaging	0.98
R7152:Ltn1	UTSW	16	87,224,529 (GRCm39)	missense	probably damaging	1.00
R7180:Ltn1	UTSW	16	87,215,382 (GRCm39)	missense	probably damaging	0.98
R7247:Ltn1	UTSW	16	87,206,275 (GRCm39)	missense	probably benign	0.00
R7454:Ltn1	UTSW	16	87,194,700 (GRCm39)	missense	probably benign	0.03
R7471:Ltn1	UTSW	16	87,194,787 (GRCm39)	missense	probably benign
R7511:Ltn1	UTSW	16	87,205,716 (GRCm39)	missense	possibly damaging	0.63
R7691:Ltn1	UTSW	16	87,195,574 (GRCm39)	missense	probably damaging	0.99
R7702:Ltn1	UTSW	16	87,223,166 (GRCm39)	missense	probably damaging	1.00
R7761:Ltn1	UTSW	16	87,208,681 (GRCm39)	missense	probably benign
R8002:Ltn1	UTSW	16	87,212,835 (GRCm39)	missense	probably benign	0.17
R8101:Ltn1	UTSW	16	87,215,385 (GRCm39)	missense	probably damaging	1.00
R8142:Ltn1	UTSW	16	87,178,529 (GRCm39)	missense	probably benign	0.21
R8214:Ltn1	UTSW	16	87,177,691 (GRCm39)	missense	probably benign	0.02
R8674:Ltn1	UTSW	16	87,195,673 (GRCm39)	missense	probably benign
R8783:Ltn1	UTSW	16	87,207,247 (GRCm39)	missense	probably benign	0.30
R8839:Ltn1	UTSW	16	87,215,390 (GRCm39)	missense	probably damaging	1.00
R8885:Ltn1	UTSW	16	87,178,433 (GRCm39)	missense	probably damaging	1.00
R8889:Ltn1	UTSW	16	87,229,230 (GRCm39)	intron	probably benign
R8892:Ltn1	UTSW	16	87,229,230 (GRCm39)	intron	probably benign
R8919:Ltn1	UTSW	16	87,178,381 (GRCm39)	missense	probably damaging	0.98
R8970:Ltn1	UTSW	16	87,212,926 (GRCm39)	missense	probably benign
R9113:Ltn1	UTSW	16	87,224,532 (GRCm39)	missense	probably damaging	1.00
R9206:Ltn1	UTSW	16	87,197,298 (GRCm39)	missense	probably benign	0.00
R9208:Ltn1	UTSW	16	87,197,298 (GRCm39)	missense	probably benign	0.00
R9234:Ltn1	UTSW	16	87,194,089 (GRCm39)	missense	probably damaging	0.98
R9421:Ltn1	UTSW	16	87,215,375 (GRCm39)	missense	possibly damaging	0.90
R9558:Ltn1	UTSW	16	87,220,295 (GRCm39)	missense	probably benign	0.05
R9654:Ltn1	UTSW	16	87,207,227 (GRCm39)	missense	probably benign	0.00
R9738:Ltn1	UTSW	16	87,222,524 (GRCm39)	missense	probably damaging	1.00
X0028:Ltn1	UTSW	16	87,199,022 (GRCm39)	missense	probably benign	0.01
Z1177:Ltn1	UTSW	16	87,198,925 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTCTAGTGTGAGTGACCAG -3'
(R):5'- TGCCTGGAATCAGATCAATGATG -3'

Sequencing Primer
(F):5'- TGTGAGTGACCAGTGCGCTC -3'
(R):5'- ATCAGATCAATGATGAGTTTATGTCC -3'

Posted On

2019-06-07