Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Ltn1'

543413

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

045079-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87415690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 661 (F661Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156299 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: F661Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: F661Y

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 damaging
Transcript: ENSMUST00000232095
AA Change: F661Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

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
Aak1	T	A	6: 86,981,335 (GRCm38)	L800H	unknown	Het
Ap2b1	T	A	11: 83,389,726 (GRCm38)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,153,679 (GRCm38)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,153,678 (GRCm38)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,326,643 (GRCm38)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,891,930 (GRCm38)	F19I	probably benign	Het
Bdp1	A	T	13: 100,074,531 (GRCm38)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,852,305 (GRCm38)	*427Q	probably null	Het
Chd9	A	C	8: 90,978,914 (GRCm38)	Q260P	probably benign	Het
Col16a1	A	T	4: 130,093,087 (GRCm38)		probably benign	Het
Csmd1	A	T	8: 17,216,789 (GRCm38)	N40K	possibly damaging	Het
Depdc5	T	G	5: 32,983,860 (GRCm38)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,358,238 (GRCm38)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,282,492 (GRCm38)	Q691R	probably damaging	Het
Dusp10	T	C	1: 184,068,888 (GRCm38)	L284P	probably damaging	Het
Efr3b	A	G	12: 3,968,624 (GRCm38)	V574A	probably benign	Het
Erc2	A	T	14: 27,898,596 (GRCm38)	I60F	probably damaging	Het
Exoc2	A	G	13: 30,911,178 (GRCm38)	V245A	probably benign	Het
Fasl	G	T	1: 161,781,675 (GRCm38)	F37L	probably damaging	Het
Fat3	G	A	9: 16,029,916 (GRCm38)	P1360S	probably benign	Het
Gm12666	A	G	4: 92,191,589 (GRCm38)	I54T	probably damaging	Het
Gpsm1	C	T	2: 26,340,543 (GRCm38)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,555,331 (GRCm38)	G124V	probably damaging	Het
Insm2	T	C	12: 55,600,178 (GRCm38)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,882,694 (GRCm38)	Y402H	possibly damaging	Het
Irx6	A	G	8: 92,677,330 (GRCm38)	E175G	probably damaging	Het
Kcnh8	C	T	17: 52,877,943 (GRCm38)	R418*	probably null	Het
Kif3c	G	A	12: 3,366,114 (GRCm38)	R45Q	probably benign	Het
Lpin1	A	G	12: 16,580,861 (GRCm38)	F12S	probably damaging	Het
Lrba	A	T	3: 86,619,590 (GRCm38)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,639,373 (GRCm38)	N200K	probably benign	Het
Lrrc7	G	A	3: 158,156,913 (GRCm38)	H1296Y	probably benign	Het
Macf1	T	C	4: 123,457,800 (GRCm38)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,257,536 (GRCm38)	A15P	probably damaging	Het
Myh2	T	C	11: 67,197,266 (GRCm38)	F1903L	probably benign	Het
Myom3	T	C	4: 135,801,060 (GRCm38)	L1072P	probably damaging	Het
Olfr1350	G	A	7: 6,570,321 (GRCm38)	C110Y	probably damaging	Het
Olfr1402	A	T	3: 97,410,802 (GRCm38)	Y126*	probably null	Het
Olfr680-ps1	T	C	7: 105,091,256 (GRCm38)	I128V	probably benign	Het
Olfr855	A	T	9: 19,584,590 (GRCm38)	T18S	possibly damaging	Het
Patl2	A	T	2: 122,128,929 (GRCm38)	V18D	possibly damaging	Het
Pkn1	T	C	8: 83,683,426 (GRCm38)	S395G	probably damaging	Het
Ptprm	A	G	17: 66,912,418 (GRCm38)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 185,236,012 (GRCm38)	L187P	probably damaging	Het
Ric1	A	T	19: 29,585,782 (GRCm38)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,985,737 (GRCm38)	K598R	probably benign	Het
Rnf40	A	G	7: 127,596,323 (GRCm38)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Sbsn	A	G	7: 30,753,191 (GRCm38)	T544A	probably benign	Het
Scaf1	C	A	7: 45,007,829 (GRCm38)		probably benign	Het
Sec24a	T	C	11: 51,700,816 (GRCm38)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,804,327 (GRCm38)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,308,826 (GRCm38)	V383F	probably damaging	Het
Slc5a2	A	G	7: 128,272,077 (GRCm38)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,464,808 (GRCm38)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,196,320 (GRCm38)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,865,125 (GRCm38)	A314T	probably damaging	Het
Sptb	A	T	12: 76,608,007 (GRCm38)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm38)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,241,542 (GRCm38)	Y424C	probably damaging	Het
Tgm3	A	G	2: 130,042,029 (GRCm38)	K536E	probably benign	Het
Tti2	A	G	8: 31,154,301 (GRCm38)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,374,048 (GRCm38)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm38)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,031,653 (GRCm38)		probably benign	Het
Zfp59	T	C	7: 27,853,497 (GRCm38)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,290,567 (GRCm38)	M144K	possibly damaging	Het
Zfp93	A	T	7: 24,275,381 (GRCm38)	K264*	probably null	Het

Other mutations in Ltn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Ltn1	APN	16	87,418,490 (GRCm38)	missense	probably benign	0.03
IGL01139:Ltn1	APN	16	87,416,009 (GRCm38)	missense	probably benign	0.04
IGL01359:Ltn1	APN	16	87,405,693 (GRCm38)	splice site	probably benign
IGL01503:Ltn1	APN	16	87,420,807 (GRCm38)	critical splice donor site	probably benign
IGL01529:Ltn1	APN	16	87,381,471 (GRCm38)	missense	probably benign	0.00
IGL02437:Ltn1	APN	16	87,398,001 (GRCm38)	missense	probably benign	0.04
IGL02658:Ltn1	APN	16	87,415,774 (GRCm38)	missense	probably damaging	1.00
IGL02890:Ltn1	APN	16	87,409,297 (GRCm38)	splice site	probably null
IGL02899:Ltn1	APN	16	87,382,659 (GRCm38)	missense	probably benign	0.34
IGL02902:Ltn1	APN	16	87,379,805 (GRCm38)	missense	possibly damaging	0.70
IGL03128:Ltn1	APN	16	87,415,944 (GRCm38)	missense	probably benign	0.00
IGL03392:Ltn1	APN	16	87,425,611 (GRCm38)	missense	probably damaging	1.00
IGL03046:Ltn1	UTSW	16	87,405,621 (GRCm38)	missense	probably benign	0.10
PIT4305001:Ltn1	UTSW	16	87,420,323 (GRCm38)	missense	probably damaging	1.00
PIT4366001:Ltn1	UTSW	16	87,380,840 (GRCm38)	nonsense	probably null
R0126:Ltn1	UTSW	16	87,425,640 (GRCm38)	missense	probably benign	0.00
R0164:Ltn1	UTSW	16	87,405,519 (GRCm38)	splice site	probably benign
R0165:Ltn1	UTSW	16	87,405,519 (GRCm38)	splice site	probably benign
R0280:Ltn1	UTSW	16	87,397,838 (GRCm38)	missense	probably damaging	1.00
R0565:Ltn1	UTSW	16	87,416,010 (GRCm38)	missense	probably benign	0.01
R0733:Ltn1	UTSW	16	87,412,507 (GRCm38)	missense	probably benign	0.01
R1034:Ltn1	UTSW	16	87,397,137 (GRCm38)	splice site	probably null
R1252:Ltn1	UTSW	16	87,416,030 (GRCm38)	missense	probably benign	0.00
R1524:Ltn1	UTSW	16	87,381,556 (GRCm38)	missense	probably damaging	1.00
R1746:Ltn1	UTSW	16	87,411,781 (GRCm38)	missense	possibly damaging	0.86
R1826:Ltn1	UTSW	16	87,415,616 (GRCm38)	missense	probably damaging	1.00
R1831:Ltn1	UTSW	16	87,400,146 (GRCm38)	missense	possibly damaging	0.94
R1839:Ltn1	UTSW	16	87,416,264 (GRCm38)	nonsense	probably null
R1860:Ltn1	UTSW	16	87,416,343 (GRCm38)	missense	probably benign	0.06
R1997:Ltn1	UTSW	16	87,381,637 (GRCm38)	missense	probably damaging	1.00
R2109:Ltn1	UTSW	16	87,415,642 (GRCm38)	missense	probably benign	0.03
R2134:Ltn1	UTSW	16	87,382,713 (GRCm38)	missense	probably damaging	1.00
R2135:Ltn1	UTSW	16	87,382,713 (GRCm38)	missense	probably damaging	1.00
R2193:Ltn1	UTSW	16	87,427,647 (GRCm38)	missense	probably damaging	1.00
R2307:Ltn1	UTSW	16	87,432,424 (GRCm38)	critical splice donor site	probably null
R2376:Ltn1	UTSW	16	87,420,807 (GRCm38)	critical splice donor site	probably null
R3054:Ltn1	UTSW	16	87,404,073 (GRCm38)	missense	probably benign	0.32
R3404:Ltn1	UTSW	16	87,416,215 (GRCm38)	missense	probably damaging	0.98
R3405:Ltn1	UTSW	16	87,416,215 (GRCm38)	missense	probably damaging	0.98
R3618:Ltn1	UTSW	16	87,420,899 (GRCm38)	missense	probably damaging	1.00
R4065:Ltn1	UTSW	16	87,416,230 (GRCm38)	missense	possibly damaging	0.84
R4066:Ltn1	UTSW	16	87,416,230 (GRCm38)	missense	possibly damaging	0.84
R4067:Ltn1	UTSW	16	87,416,230 (GRCm38)	missense	possibly damaging	0.84
R4288:Ltn1	UTSW	16	87,397,988 (GRCm38)	missense	possibly damaging	0.57
R4436:Ltn1	UTSW	16	87,405,614 (GRCm38)	missense	probably benign	0.17
R4535:Ltn1	UTSW	16	87,426,286 (GRCm38)	missense	probably damaging	1.00
R4581:Ltn1	UTSW	16	87,402,024 (GRCm38)	critical splice donor site	probably null
R4669:Ltn1	UTSW	16	87,418,487 (GRCm38)	missense	possibly damaging	0.90
R4715:Ltn1	UTSW	16	87,418,494 (GRCm38)	missense	probably damaging	0.98
R4830:Ltn1	UTSW	16	87,379,694 (GRCm38)	missense	probably damaging	1.00
R4887:Ltn1	UTSW	16	87,398,809 (GRCm38)	nonsense	probably null
R4961:Ltn1	UTSW	16	87,397,791 (GRCm38)	missense	probably benign
R4992:Ltn1	UTSW	16	87,405,587 (GRCm38)	missense	possibly damaging	0.70
R5073:Ltn1	UTSW	16	87,427,740 (GRCm38)	missense	probably damaging	0.99
R5288:Ltn1	UTSW	16	87,416,011 (GRCm38)	missense	possibly damaging	0.80
R5802:Ltn1	UTSW	16	87,415,681 (GRCm38)	missense	probably benign	0.17
R5907:Ltn1	UTSW	16	87,381,503 (GRCm38)	missense	possibly damaging	0.94
R6180:Ltn1	UTSW	16	87,427,789 (GRCm38)	missense	probably damaging	1.00
R6194:Ltn1	UTSW	16	87,415,810 (GRCm38)	missense	probably damaging	1.00
R6257:Ltn1	UTSW	16	87,411,774 (GRCm38)	missense	possibly damaging	0.74
R6301:Ltn1	UTSW	16	87,420,306 (GRCm38)	missense	probably benign
R6481:Ltn1	UTSW	16	87,378,980 (GRCm38)	missense	probably damaging	1.00
R6525:Ltn1	UTSW	16	87,420,186 (GRCm38)	missense	probably damaging	1.00
R6958:Ltn1	UTSW	16	87,397,791 (GRCm38)	missense	probably benign
R7002:Ltn1	UTSW	16	87,423,473 (GRCm38)	missense	probably benign
R7038:Ltn1	UTSW	16	87,424,871 (GRCm38)	missense	probably damaging	1.00
R7062:Ltn1	UTSW	16	87,427,603 (GRCm38)	missense	probably damaging	0.98
R7152:Ltn1	UTSW	16	87,427,641 (GRCm38)	missense	probably damaging	1.00
R7180:Ltn1	UTSW	16	87,418,494 (GRCm38)	missense	probably damaging	0.98
R7247:Ltn1	UTSW	16	87,409,387 (GRCm38)	missense	probably benign	0.00
R7454:Ltn1	UTSW	16	87,397,812 (GRCm38)	missense	probably benign	0.03
R7471:Ltn1	UTSW	16	87,397,899 (GRCm38)	missense	probably benign
R7511:Ltn1	UTSW	16	87,408,828 (GRCm38)	missense	possibly damaging	0.63
R7691:Ltn1	UTSW	16	87,398,686 (GRCm38)	missense	probably damaging	0.99
R7702:Ltn1	UTSW	16	87,426,278 (GRCm38)	missense	probably damaging	1.00
R7761:Ltn1	UTSW	16	87,411,793 (GRCm38)	missense	probably benign
R8002:Ltn1	UTSW	16	87,415,947 (GRCm38)	missense	probably benign	0.17
R8101:Ltn1	UTSW	16	87,418,497 (GRCm38)	missense	probably damaging	1.00
R8142:Ltn1	UTSW	16	87,381,641 (GRCm38)	missense	probably benign	0.21
R8214:Ltn1	UTSW	16	87,380,803 (GRCm38)	missense	probably benign	0.02
R8674:Ltn1	UTSW	16	87,398,785 (GRCm38)	missense	probably benign
R8783:Ltn1	UTSW	16	87,410,359 (GRCm38)	missense	probably benign	0.30
R8839:Ltn1	UTSW	16	87,418,502 (GRCm38)	missense	probably damaging	1.00
R8885:Ltn1	UTSW	16	87,381,545 (GRCm38)	missense	probably damaging	1.00
R8889:Ltn1	UTSW	16	87,432,342 (GRCm38)	intron	probably benign
R8892:Ltn1	UTSW	16	87,432,342 (GRCm38)	intron	probably benign
R8919:Ltn1	UTSW	16	87,381,493 (GRCm38)	missense	probably damaging	0.98
R8970:Ltn1	UTSW	16	87,416,038 (GRCm38)	missense	probably benign
R9113:Ltn1	UTSW	16	87,427,644 (GRCm38)	missense	probably damaging	1.00
R9206:Ltn1	UTSW	16	87,400,410 (GRCm38)	missense	probably benign	0.00
R9208:Ltn1	UTSW	16	87,400,410 (GRCm38)	missense	probably benign	0.00
R9234:Ltn1	UTSW	16	87,397,201 (GRCm38)	missense	probably damaging	0.98
R9421:Ltn1	UTSW	16	87,418,487 (GRCm38)	missense	possibly damaging	0.90
R9558:Ltn1	UTSW	16	87,423,407 (GRCm38)	missense	probably benign	0.05
R9654:Ltn1	UTSW	16	87,410,339 (GRCm38)	missense	probably benign	0.00
R9738:Ltn1	UTSW	16	87,425,636 (GRCm38)	missense	probably damaging	1.00
X0028:Ltn1	UTSW	16	87,402,134 (GRCm38)	missense	probably benign	0.01
Z1177:Ltn1	UTSW	16	87,402,037 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACAGCTCCCATGCTTATCC -3'
(R):5'- TGGCAGAGGTGAGCATTAGC -3'

Sequencing Primer
(F):5'- AACAGCTCCCATGCTTATCCTTACC -3'
(R):5'- CTTTGTCAACGAGCGGAAGTC -3'

Posted On

2018-11-28