Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Ltn1'

677282

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 #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87381545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1599 (T1599A)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably damaging
Transcript: ENSMUST00000039449
AA Change: T1599A

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

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: T1599A

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

Meta Mutation Damage Score

0.4419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,406	S977C	possibly damaging	Het
4921507P07Rik	A	T	6: 50,574,048	Y474N	possibly damaging	Het
Abca8a	T	A	11: 110,069,479	D646V	probably damaging	Het
Adss	T	A	1: 177,769,960	Y378F	probably damaging	Het
Akap6	C	T	12: 53,141,536	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159	Y43C	probably benign	Het
Alk	A	C	17: 71,895,763	V1159G	probably damaging	Het
Alx3	A	T	3: 107,600,694	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,162,311		probably benign	Het
Atf7ip	C	A	6: 136,587,143	L787I	probably benign	Het
Bbs9	A	T	9: 22,678,938	E657D	possibly damaging	Het
Bean1	G	A	8: 104,182,120		probably null	Het
Cactin	G	T	10: 81,321,248	R13L	unknown	Het
Ccdc178	T	C	18: 22,067,664	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,324,562	I583T	probably damaging	Het
Ccl8	T	C	11: 82,116,107	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,639,007	K199N	probably damaging	Het
Cnbp	G	A	6: 87,845,664	S39L	probably benign	Het
Cnih3	T	A	1: 181,409,872		probably benign	Het
Cnksr3	A	T	10: 7,140,201		probably benign	Het
Cntn1	A	G	15: 92,261,499	I512V	probably benign	Het
Col20a1	A	G	2: 180,998,503		probably benign	Het
Col28a1	A	T	6: 8,127,360		probably benign	Het
Col6a2	A	T	10: 76,614,907	Y63*	probably null	Het
Copa	T	G	1: 172,097,745	F190V	probably damaging	Het
Crisp4	A	C	1: 18,136,924		probably benign	Het
Cxcl2	C	T	5: 90,904,226	Q64*	probably null	Het
Cxcr5	T	C	9: 44,514,252	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,372,606	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,241,193	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198	D57A	probably benign	Het
Ddx11	T	A	17: 66,143,465	S492T	probably benign	Het
Dhx34	C	T	7: 16,216,451	R264H	probably damaging	Het
Dnah3	T	A	7: 119,962,152	I328F		Het
Dnah5	C	T	15: 28,327,740	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,708,312	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,310,396	N982D	probably benign	Het
Dync1h1	A	G	12: 110,616,738	D423G	probably damaging	Het
Ect2l	A	C	10: 18,172,835	L213V	probably damaging	Het
Fam210a	T	C	18: 68,276,144	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266		probably null	Het
Fastkd5	T	C	2: 130,615,191	E493G	probably benign	Het
Fbxo38	T	C	18: 62,526,201	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,411	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,636,333		probably benign	Het
Frmd4b	G	T	6: 97,412,519	P129T	probably benign	Het
Galnt13	C	A	2: 54,880,126	A310E	probably benign	Het
Gm4884	T	A	7: 41,044,684	Y692*	probably null	Het
Gm6309	T	A	5: 146,168,293	D270V	probably damaging	Het
Grip1	G	T	10: 119,454,287		probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kdf1	G	T	4: 133,528,194	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,053,708	C169*	probably null	Het
Kmt2c	G	T	5: 25,315,079	T2011K	probably benign	Het
Lama1	G	A	17: 67,773,784	G1269E		Het
Lamb3	C	T	1: 193,334,874	A791V	probably benign	Het
Leng9	G	T	7: 4,148,775	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,987,604	V746L	probably benign	Het
Lrp5	T	A	19: 3,652,170	S216C	probably damaging	Het
Map2k1	G	T	9: 64,187,324	N345K	probably damaging	Het
Map4k1	T	A	7: 28,989,437	D304E	probably benign	Het
Mcpt1	C	T	14: 56,019,065	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,027,696	K116R	probably benign	Het
Morc2a	G	T	11: 3,678,584	A346S	probably damaging	Het
Mybpc3	A	T	2: 91,123,892	Q370L	probably benign	Het
Nars2	T	C	7: 97,002,888	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,469,971	Y118N	probably damaging	Het
Nek11	A	T	9: 105,295,372		probably null	Het
Notch4	T	C	17: 34,584,496	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,564,125	I536T	probably benign	Het
Olfr771	T	C	10: 129,160,465	Y173C	probably benign	Het
Pbld1	A	T	10: 63,076,447	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,763,124	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,374,560	D242G	probably damaging	Het
Pnmt	T	A	11: 98,387,754	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,833,437	N758K	probably damaging	Het
Prex2	A	G	1: 11,170,575		probably benign	Het
Prss3	A	T	6: 41,377,578	L7Q	probably damaging	Het
Prss43	T	A	9: 110,830,978	L370Q	probably damaging	Het
Rac1	A	T	5: 143,508,130	V104E	probably damaging	Het
Rgs9	T	C	11: 109,275,623	Y107C	probably damaging	Het
Rnase13	C	T	14: 51,922,483	W66*	probably null	Het
Rrp1b	G	A	17: 32,051,714	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,519,768	S309P	probably benign	Het
Serpine3	T	A	14: 62,665,138	L66Q	probably damaging	Het
Smc5	C	T	19: 23,213,870	V924M	probably damaging	Het
Srgap1	A	T	10: 121,925,640		probably benign	Het
Stab1	T	C	14: 31,161,814	E262G	possibly damaging	Het
Ston2	A	G	12: 91,639,724	*896R	probably null	Het
Syt6	A	G	3: 103,625,625	M442V	probably benign	Het
Tap1	T	C	17: 34,189,562		probably null	Het
Tbx3	A	C	5: 119,680,559	S420R	probably benign	Het
Tespa1	A	T	10: 130,362,447	Q446L	probably benign	Het
Tifab	T	C	13: 56,176,295	M112V	probably benign	Het
Trpv5	A	T	6: 41,653,258	S633T	possibly damaging	Het
Ttn	T	C	2: 76,853,892	K838R	unknown	Het
Ttn	A	T	2: 76,914,466	V5413E	probably damaging	Het
Tub	C	A	7: 109,029,586	N415K		Het
Vmn2r3	T	C	3: 64,274,962	M439V	probably benign	Het
Vps13c	A	G	9: 67,943,454	D2231G	probably benign	Het
Wbp1	C	T	6: 83,119,932	C118Y	unknown	Het
Zdhhc20	C	T	14: 57,890,214		probably benign	Het
Zfp217	T	A	2: 170,114,471	N869I	probably benign	Het
Zfp677	T	C	17: 21,398,088	I469T	probably benign	Het
Zmym2	T	A	14: 56,947,872		probably benign	Het
Zzef1	T	G	11: 72,796,576	S94A	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
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
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'- ATGTCCAGAGTAACACAGAGTAGTC -3'
(R):5'- TGCACATGTATCACTAACCTGGG -3'

Sequencing Primer
(F):5'- CACAGAGTAGTCAGAAAATGAGGTTG -3'
(R):5'- CACATGTATCACTAACCTGGGATTTG -3'

Posted On

2021-08-02