Mutagenetix > Incidental Mutation

Incidental Mutation 'R7152:Ltn1'

554222

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 #

R7152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87427641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 65 (F65S)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: F65S

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

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: F65S

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: F65S

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

Meta Mutation Damage Score

0.7877

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC067074	T	C	13: 113,318,850	F477L		Het
Btnl10	A	G	11: 58,922,397	N284S	probably benign	Het
Casz1	C	G	4: 148,901,291		probably benign	Het
Cdkn2c	A	T	4: 109,665,038	F37I	probably damaging	Het
Cdyl2	T	C	8: 116,624,327	K22E	probably damaging	Het
Cers1	T	C	8: 70,318,251	W104R	probably damaging	Het
Cgrrf1	T	A	14: 46,853,477	Y223*	probably null	Het
Cited2	C	A	10: 17,724,386	N147K	probably benign	Het
Clip2	A	T	5: 134,496,241	L904Q	probably damaging	Het
Cntln	T	C	4: 84,884,700	V79A	possibly damaging	Het
Cntnap1	C	T	11: 101,177,326	R55W	probably damaging	Het
Ctnna2	T	A	6: 76,980,824	T481S	possibly damaging	Het
Ddx17	T	C	15: 79,530,263	T570A	possibly damaging	Het
Epha7	A	G	4: 28,935,826	K483E	possibly damaging	Het
Eps8l2	A	T	7: 141,355,765	I150F	possibly damaging	Het
Esyt1	A	G	10: 128,515,760	S827P	possibly damaging	Het
Fbxl13	T	A	5: 21,582,067	I291F	possibly damaging	Het
Foxd3	A	C	4: 99,657,325	H234P	probably benign	Het
Ggta1	T	A	2: 35,402,699	M199L	probably benign	Het
Hist2h3b	A	G	3: 96,268,938	D82G	probably benign	Het
Ighv5-15	T	C	12: 113,826,697	E101G	probably benign	Het
Igkv8-18	T	C	6: 70,356,221	L49P	probably damaging	Het
Itpr1	T	C	6: 108,394,407		probably null	Het
Klhl36	C	T	8: 119,870,214	T218M	probably benign	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Ndst3	T	A	3: 123,552,656	I642F	possibly damaging	Het
Neb	T	C	2: 52,263,545	D2456G	probably damaging	Het
Nphp1	A	G	2: 127,753,979	M522T	probably benign	Het
Olfr1080	C	T	2: 86,553,329	S265N	probably benign	Het
Olfr639	T	A	7: 104,012,019	M228L	probably benign	Het
Pam	T	A	1: 97,885,740	M322L	probably damaging	Het
Pcdhgb1	C	A	18: 37,681,801	H448Q	probably benign	Het
Pcnt	T	C	10: 76,411,360		probably null	Het
Pgm3	A	T	9: 86,567,540	D142E	probably benign	Het
Pomgnt2	C	T	9: 121,983,523	G64D	probably damaging	Het
Sds	A	T	5: 120,481,651		probably null	Het
Sirpb1b	G	T	3: 15,542,170	Q351K	probably benign	Het
Slc2a12	T	A	10: 22,665,554	M436K	probably benign	Het
Slc9a5	G	A	8: 105,368,393	G872D	probably benign	Het
Stxbp2	T	G	8: 3,632,583	S57R	probably benign	Het
Sult2a6	T	A	7: 14,222,520	D272V	probably benign	Het
Supt5	A	G	7: 28,323,900	M318T	probably benign	Het
Tdpoz3	T	C	3: 93,826,465	V149A	probably damaging	Het
Tead2	T	A	7: 45,220,447	S124T	possibly damaging	Het
Tssc4	T	A	7: 143,070,402	V149D	probably damaging	Het
Ttn	C	T	2: 76,853,161	A906T		Het
Uspl1	A	G	5: 149,187,778	T2A	possibly damaging	Het
Vmn1r124	G	A	7: 21,260,259	P120L	probably benign	Het
Vmn1r37	T	C	6: 66,731,899	Y170H	probably benign	Het
Vnn3	T	A	10: 23,851,615	V11E	possibly damaging	Het
Zbtb7b	C	T	3: 89,380,902	R203H	probably benign	Het
Zfhx3	T	C	8: 108,948,207	V1963A	possibly damaging	Het
Zfp324	C	A	7: 12,966,271	A19E	probably benign	Het
Zfyve26	T	C	12: 79,279,114	S784G	probably benign	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
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
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'- CCCCTATCGTGAATATATGATCATGTG -3'
(R):5'- GTCAAACTACTTGGTTCAAAACAGAGC -3'

Sequencing Primer
(F):5'- GTGGTTCAAAATGTTTCAGAGCAAC -3'
(R):5'- CTTGGTTCAAAACAGAGCATTATCTC -3'

Posted On

2019-05-15