Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:Ltn1'

293303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltn1

Ensembl Gene

ENSMUSG00000052299

Gene Name

listerin E3 ubiquitin protein ligase 1

Synonyms

4930528H02Rik, Rnf160, Zfp294, Listerin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

87376651-87432612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87398001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1337 (T1337A)

Ref Sequence

ENSEMBL: ENSMUSP00000038775 (fasta)

Gene Model

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

AlphaFold

Q6A009

Predicted Effect

probably benign
Transcript: ENSMUST00000039449
AA Change: T1337A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038775
Gene: ENSMUSG00000052299
AA Change: T1337A

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,229,377 (GRCm38)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,229,382 (GRCm38)	P402L	probably damaging	Het
Abca16	T	G	7: 120,533,729 (GRCm38)	C1294G	probably benign	Het
Abca7	T	A	10: 80,008,389 (GRCm38)	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,834,369 (GRCm38)	D356G	probably benign	Het
BC004004	T	C	17: 29,298,697 (GRCm38)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,988,731 (GRCm38)	S215G	probably damaging	Het
Bptf	C	T	11: 107,074,695 (GRCm38)	M1109I	probably benign	Het
Brat1	C	T	5: 140,712,808 (GRCm38)	A245V	possibly damaging	Het
Cask	G	A	X: 13,537,621 (GRCm38)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,811,978 (GRCm38)		probably null	Het
Cibar2	T	C	8: 120,174,786 (GRCm38)	E60G	probably damaging	Het
Clic6	A	T	16: 92,530,929 (GRCm38)	I541F	probably damaging	Het
Clnk	C	T	5: 38,774,566 (GRCm38)		probably null	Het
Cntnap1	T	A	11: 101,186,851 (GRCm38)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,698,495 (GRCm38)	S132P	probably benign	Het
Cyp4f13	G	T	17: 32,930,608 (GRCm38)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,101,816 (GRCm38)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,298,267 (GRCm38)	T500A	probably benign	Het
Gbe1	T	A	16: 70,434,658 (GRCm38)		probably benign	Het
Gli2	T	A	1: 118,836,003 (GRCm38)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,735,863 (GRCm38)		probably benign	Het
Hdgf	C	T	3: 87,914,485 (GRCm38)	R168C	probably damaging	Het
Heph	A	G	X: 96,473,027 (GRCm38)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,525,787 (GRCm38)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,327,945 (GRCm38)	R289C	probably damaging	Het
Leng8	C	T	7: 4,142,093 (GRCm38)	A164V	probably damaging	Het
Mast3	C	A	8: 70,780,558 (GRCm38)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,830,216 (GRCm38)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 27,063,968 (GRCm38)		probably benign	Het
Nipbl	T	C	15: 8,359,074 (GRCm38)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,313,441 (GRCm38)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,214,241 (GRCm38)	N239S	probably benign	Het
Ogfr	A	G	2: 180,589,536 (GRCm38)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,681,200 (GRCm38)	S145T	probably benign	Het
Or4c58	A	G	2: 89,844,784 (GRCm38)	L63P	probably damaging	Het
Pcna	A	T	2: 132,251,235 (GRCm38)		probably benign	Het
Pdia3	T	A	2: 121,433,648 (GRCm38)	V326E	probably damaging	Het
Phf8	T	A	X: 151,631,360 (GRCm38)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,916 (GRCm38)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm38)	D284Y	probably damaging	Het
Samd8	A	G	14: 21,775,423 (GRCm38)	Y212C	probably benign	Het
Sash3	C	A	X: 48,158,795 (GRCm38)	Q169K	probably benign	Het
Scyl1	C	T	19: 5,766,196 (GRCm38)	G324S	probably damaging	Het
Sec62	G	A	3: 30,818,847 (GRCm38)	G360R	unknown	Het
Sis	T	C	3: 72,919,614 (GRCm38)		probably null	Het
Slc6a1	T	A	6: 114,308,617 (GRCm38)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,216,110 (GRCm38)	D264G	probably damaging	Het
Tgm3	G	T	2: 130,030,041 (GRCm38)		probably null	Het
Tnrc6b	T	G	15: 80,880,457 (GRCm38)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,298,232 (GRCm38)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,140,850 (GRCm38)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,363,933 (GRCm38)	V304M	probably damaging	Het
Wtap	T	C	17: 12,967,733 (GRCm38)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,268,847 (GRCm38)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,588,417 (GRCm38)	T484I	probably damaging	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
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
R6969:Ltn1	UTSW	16	87,415,690 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2015-04-16