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

Listerin, Zfp294, Rnf160, 4930528H02Rik

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

87173539-87229500 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87209395 bp (GRCm39)

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
Abl1	A	G	2: 31,668,957 (GRCm39)	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,579,783 (GRCm39)	I476V	possibly damaging	Het
Apba2	T	C	7: 64,399,912 (GRCm39)	I689T	probably damaging	Het
AU018091	A	G	7: 3,209,001 (GRCm39)	Y362H	probably damaging	Het
Castor2	T	C	5: 134,165,054 (GRCm39)	F208L	possibly damaging	Het
Cdh26	T	C	2: 178,128,724 (GRCm39)	S759P	probably damaging	Het
Clcc1	A	G	3: 108,582,056 (GRCm39)	Q387R	probably benign	Het
Cobl	C	T	11: 12,315,167 (GRCm39)	G259R	probably benign	Het
Col4a1	C	T	8: 11,268,934 (GRCm39)	R968Q	possibly damaging	Het
Ddr2	A	G	1: 169,832,381 (GRCm39)		probably benign	Het
Dera	C	A	6: 137,773,846 (GRCm39)	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,471,725 (GRCm39)	E659A	probably damaging	Het
Dus2	G	T	8: 106,772,702 (GRCm39)		probably null	Het
Ears2	T	A	7: 121,647,352 (GRCm39)	I311F	possibly damaging	Het
Eml4	T	A	17: 83,761,893 (GRCm39)	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,213,616 (GRCm39)	M147L	probably benign	Het
Fam171a2	T	A	11: 102,330,548 (GRCm39)	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,648,921 (GRCm39)	H155Q	probably null	Het
Fem1b	G	T	9: 62,704,125 (GRCm39)	N378K	possibly damaging	Het
Fut11	C	A	14: 20,745,427 (GRCm39)	Y119*	probably null	Het
Gm6797	T	C	X: 8,511,388 (GRCm39)		noncoding transcript	Het
Gstt4	T	C	10: 75,653,148 (GRCm39)	D138G	probably benign	Het
Hprt1	G	A	X: 52,091,027 (GRCm39)	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,595,799 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,547,108 (GRCm39)	S621T	probably benign	Het
Ints6l	C	G	X: 55,550,172 (GRCm39)	A699G	probably benign	Het
Kctd3	A	G	1: 188,729,247 (GRCm39)		probably benign	Het
Kntc1	G	T	5: 123,928,979 (GRCm39)	V1252L	probably null	Het
Lama5	A	T	2: 179,822,511 (GRCm39)	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,551,113 (GRCm39)	L187F	probably damaging	Het
Lrp3	A	T	7: 34,901,545 (GRCm39)	L758M	possibly damaging	Het
Mcm5	A	G	8: 75,853,876 (GRCm39)	K710R	probably benign	Het
Mllt10	A	G	2: 18,208,577 (GRCm39)		probably benign	Het
Nbr1	T	A	11: 101,467,197 (GRCm39)	M864K	probably benign	Het
Nkiras2	T	C	11: 100,515,758 (GRCm39)		probably null	Het
Nlrp4d	T	A	7: 10,116,449 (GRCm39)	E144V	probably benign	Het
Nppc	T	C	1: 86,597,356 (GRCm39)		probably benign	Het
Ormdl2	T	A	10: 128,655,868 (GRCm39)	Q94L	probably damaging	Het
Paox	G	C	7: 139,707,440 (GRCm39)	D88H	probably damaging	Het
Prl7a2	T	C	13: 27,846,671 (GRCm39)	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Prss54	T	C	8: 96,286,368 (GRCm39)	D235G	possibly damaging	Het
Rwdd3	T	C	3: 120,965,256 (GRCm39)	M24V	probably benign	Het
Serpinb6e	T	A	13: 34,025,201 (GRCm39)	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,825,594 (GRCm39)	A530T	probably benign	Het
Slc28a1	T	C	7: 80,774,648 (GRCm39)	I165T	probably benign	Het
Slco6d1	T	A	1: 98,355,994 (GRCm39)	L143*	probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,469,320 (GRCm39)	L7P	probably benign	Het
Spata31e2	T	A	1: 26,722,013 (GRCm39)	T1056S	possibly damaging	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
St8sia2	C	T	7: 73,610,588 (GRCm39)	G232S	probably benign	Het
Sun1	A	G	5: 139,216,918 (GRCm39)	H255R	possibly damaging	Het
Tent2	T	A	13: 93,291,547 (GRCm39)	Q365L	probably benign	Het
Ube2k	A	G	5: 65,738,795 (GRCm39)	I95V	probably damaging	Het
Ube2m	C	A	7: 12,769,679 (GRCm39)	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,169,147 (GRCm39)	M661K	probably benign	Het
Wdr47	A	T	3: 108,525,939 (GRCm39)	D154V	probably damaging	Het
Zfp113	A	G	5: 138,143,845 (GRCm39)	V135A	probably benign	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
PIT4366001:Ltn1	UTSW	16	87,177,728 (GRCm39)	nonsense	probably null
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
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'- CCAGGAGGTGGAAAGGATTATCAACCC -3'
(R):5'- TCCAGTCCCTGCTTTAGAAAGTCAGAG -3'

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

Posted On

2013-09-03