Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02221:Lin9'

285157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lin9

Ensembl Gene

ENSMUSG00000058729

Gene Name

lin-9 homolog (C. elegans)

Synonyms

2700022J23Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02221

Quality Score

Status

Chromosome

Chromosomal Location

180641150-180690694 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180650834 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 53 (M53L)

Ref Sequence

ENSEMBL: ENSMUSP00000141530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000192561] [ENSMUST00000192725] [ENSMUST00000193892]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085804

SMART Domains

Protein: ENSMUSP00000082960
Gene: ENSMUSG00000058729

Domain	Start	End	E-Value	Type
DIRP	127	232	2.93e-67	SMART
coiled coil region	354	412	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC
low complexity region	445	458	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191744

Predicted Effect

probably benign
Transcript: ENSMUST00000192561
AA Change: M69L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: M69L

Domain	Start	End	E-Value	Type
DIRP	143	248	2.2e-71	SMART
coiled coil region	370	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192725
AA Change: M64L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: M64L

Domain	Start	End	E-Value	Type
DIRP	103	208	2.2e-71	SMART
coiled coil region	330	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193892
AA Change: M53L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729
AA Change: M53L

Domain	Start	End	E-Value	Type
DIRP	127	232	2.2e-71	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194373

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show increased body weight. Mice homozygous for a gene-trap allele die shortly after implantation with defects in early embryogenesis. Homozygous deletion in adult mice causes premature death, intestinal epithelium atrophy, and abnormal mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,356,948	I24M	probably benign	Het
Ano5	G	A	7: 51,570,323	D390N	probably damaging	Het
Atp2c2	A	G	8: 119,744,334	Y407C	probably damaging	Het
B430306N03Rik	T	C	17: 48,324,195		probably benign	Het
BC052040	T	C	2: 115,639,066		probably null	Het
Cd44	A	T	2: 102,846,513	M269K	probably benign	Het
Cpped1	G	T	16: 11,828,528	P144Q	probably damaging	Het
Epas1	C	T	17: 86,827,847	T636M	possibly damaging	Het
Hsd17b3	G	T	13: 64,089,051	H26Q	probably benign	Het
Ighv8-9	A	G	12: 115,468,327		probably benign	Het
Itih1	A	T	14: 30,929,587	C883S	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lcn3	A	T	2: 25,766,160	M76L	probably benign	Het
Mast1	A	G	8: 84,918,755	V687A	possibly damaging	Het
Mmd2	C	T	5: 142,569,457		probably benign	Het
Mroh2b	T	C	15: 4,923,641	L619S	probably damaging	Het
Ngef	T	C	1: 87,540,696	T114A	probably benign	Het
Nlrp12	T	C	7: 3,240,967	D305G	possibly damaging	Het
Nlrp1a	A	T	11: 71,123,118	F435L	possibly damaging	Het
Nup188	A	G	2: 30,330,641	I909V	possibly damaging	Het
Osbpl3	A	C	6: 50,327,367		probably benign	Het
P2ry2	G	T	7: 100,998,114	P328H	possibly damaging	Het
Prex2	A	T	1: 11,061,345	N46I	probably benign	Het
Prss42	T	C	9: 110,803,175	F325L	possibly damaging	Het
Reep5	A	G	18: 34,349,797	F120L	probably damaging	Het
Scg3	G	T	9: 75,683,657	F23L	probably damaging	Het
Scx	A	G	15: 76,459,095	D200G	probably benign	Het
Setd5	C	T	6: 113,121,170		probably benign	Het
Tcf4	T	A	18: 69,347,367	S23R	probably damaging	Het
Ttc4	A	G	4: 106,676,596		probably null	Het
Tyro3	T	A	2: 119,812,590	C627S	probably benign	Het
Yipf2	T	C	9: 21,591,468	N106S	possibly damaging	Het
Zfp619	T	C	7: 39,536,910	L788P	probably benign	Het
Zfp831	G	A	2: 174,643,726	V65I	probably benign	Het
Zgpat	T	C	2: 181,378,858	S275P	probably benign	Het

Other mutations in Lin9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Lin9	APN	1	180667367	missense	probably damaging	1.00
IGL02233:Lin9	APN	1	180689300	missense	probably damaging	0.98
IGL02370:Lin9	APN	1	180688018	missense	probably damaging	1.00
IGL02794:Lin9	APN	1	180651879	missense	probably damaging	1.00
R0278:Lin9	UTSW	1	180665923	missense	probably damaging	1.00
R1488:Lin9	UTSW	1	180688285	missense	possibly damaging	0.61
R3808:Lin9	UTSW	1	180659111	missense	probably null	0.32
R3809:Lin9	UTSW	1	180659111	missense	probably null	0.32
R3884:Lin9	UTSW	1	180688065	nonsense	probably null
R3978:Lin9	UTSW	1	180668792	missense	possibly damaging	0.94
R4600:Lin9	UTSW	1	180681194	missense	probably damaging	0.99
R4625:Lin9	UTSW	1	180689280	missense	probably damaging	0.99
R4730:Lin9	UTSW	1	180665851	nonsense	probably null
R4987:Lin9	UTSW	1	180668764	missense	probably damaging	1.00
R5034:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5035:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5045:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5046:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5148:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5180:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5181:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5221:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5222:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5329:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5332:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5633:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5634:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5696:Lin9	UTSW	1	180659081	missense	probably benign	0.00
R5812:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5813:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5814:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R5851:Lin9	UTSW	1	180669198	missense	probably benign	0.01
R7046:Lin9	UTSW	1	180667370	missense	probably damaging	1.00
R7084:Lin9	UTSW	1	180688096	missense	probably benign	0.11
R8163:Lin9	UTSW	1	180659126	missense	probably damaging	1.00
R8421:Lin9	UTSW	1	180665800	missense	probably damaging	1.00
R8776:Lin9	UTSW	1	180668885	critical splice donor site	unknown
R8776-TAIL:Lin9	UTSW	1	180668885	critical splice donor site	unknown
Z1177:Lin9	UTSW	1	180650802	missense	probably benign	0.08

Posted On

2015-04-16