Mutagenetix > Incidental Mutations

Incidental Mutation 'R3978:Lin9'

311104

Institutional Source

Beutler Lab

Gene Symbol

Lin9

Ensembl Gene

ENSMUSG00000058729

Gene Name

lin-9 homolog (C. elegans)

Synonyms

2700022J23Rik

MMRRC Submission

040941-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180641150-180690694 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180668792 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 298 (I298N)

Ref Sequence

ENSEMBL: ENSMUSP00000141331 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085803
AA Change: I282N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000082959
Gene: ENSMUSG00000058729
AA Change: I282N

Domain	Start	End	E-Value	Type
DIRP	127	232	2.93e-67	SMART
coiled coil region	354	412	N/A	INTRINSIC

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

possibly damaging
Transcript: ENSMUST00000192561
AA Change: I298N

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: I298N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192725
AA Change: I258N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: I258N

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

SMART Domains

Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194638

Meta Mutation Damage Score

0.2153

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 138,183,674	T61A	probably benign	Het
Adam28	A	G	14: 68,610,994	V671A	probably benign	Het
Ankhd1	A	T	18: 36,647,613	H1906L	probably damaging	Het
Ano5	G	A	7: 51,587,806	V743I	probably benign	Het
Arfgef1	A	G	1: 10,209,634	V236A	probably benign	Het
Arid2	A	G	15: 96,363,622	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,996,933		probably null	Het
Azin1	A	T	15: 38,498,713	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,017,188	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,962,412	T1662A	probably benign	Het
Cog8	T	A	8: 107,053,037	I203F	probably damaging	Het
Col6a6	T	C	9: 105,698,879	H2094R	probably damaging	Het
Cybb	T	C	X: 9,444,588	Y425C	probably damaging	Het
Dab2	A	G	15: 6,435,163		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,897,088		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,897,089		probably benign	Het
Eif3i	T	C	4: 129,592,336	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,225,035	M402L	probably benign	Het
Fga	A	T	3: 83,030,183		probably null	Het
Foxp2	A	G	6: 15,197,208		probably benign	Het
Gbp2	C	T	3: 142,629,986	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,943,568	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,517,850	T136I	probably benign	Het
Gprc5b	C	T	7: 118,984,131	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,621,101	V449L	probably benign	Het
Hdlbp	T	C	1: 93,421,351	I535V	probably damaging	Het
Helb	A	G	10: 120,089,625	V949A	probably benign	Het
Hoxc13	T	C	15: 102,921,240	V18A	possibly damaging	Het
Hr	A	G	14: 70,563,584	T699A	probably benign	Het
Il27ra	G	A	8: 84,040,684	T170I	probably benign	Het
Insm2	T	C	12: 55,600,838	Y456H	probably benign	Het
Katna1	T	C	10: 7,752,754	M249T	probably damaging	Het
Lyst	G	A	13: 13,634,168	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,377,931	D685E	probably damaging	Het
Oasl1	C	T	5: 114,932,898	T274I	probably damaging	Het
Olfr485	A	G	7: 108,159,612	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,073,685	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,830,629	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,192,254	I13T	probably benign	Het
Psmd1	T	C	1: 86,128,187	M757T	probably benign	Het
Rdh19	A	T	10: 127,850,075	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,615,111	T296A	possibly damaging	Het
Rgl2	G	A	17: 33,935,162	R472H	probably benign	Het
Rhcg	T	C	7: 79,617,399	E43G	probably benign	Het
Rif1	T	A	2: 52,116,747		probably null	Het
Rorb	A	G	19: 18,937,890	V468A	probably benign	Het
Rxrb	C	T	17: 34,036,326	P209L	possibly damaging	Het
Sbf2	G	T	7: 110,329,885	T1438K	probably benign	Het
Setd3	A	T	12: 108,157,942	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,489,827	D110N	probably benign	Het
Slc26a3	T	A	12: 31,465,860		probably null	Het
Slc5a5	A	G	8: 70,889,395	V305A	probably benign	Het
Slc6a6	A	T	6: 91,755,052	M621L	probably benign	Het
Smgc	A	T	15: 91,860,348	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,035,160	D172G	possibly damaging	Het
Syt15	T	A	14: 34,223,104	C203S	probably benign	Het
Tdrd1	A	G	19: 56,866,634	R1171G	probably benign	Het
Trp63	A	G	16: 25,820,740		probably benign	Het
Tspan9	A	G	6: 127,967,247	V30A	probably damaging	Het
Ubp1	A	T	9: 113,956,705		probably null	Het
Vmn2r68	T	A	7: 85,232,462	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,653,957		probably null	Het
Wee1	G	T	7: 110,124,555	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,284	G36D	probably damaging	Het
Zmym6	T	C	4: 127,123,555	I951T	possibly damaging	Het

Other mutations in Lin9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Lin9	APN	1	180667367	missense	probably damaging	1.00
IGL02221:Lin9	APN	1	180650834	missense	probably benign	0.03
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
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
Z1177:Lin9	UTSW	1	180650802	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGTTACCGCCCCAGTCTTACAC -3'
(R):5'- TAGCTCAAGTCCTGAAGTAGCTG -3'

Sequencing Primer
(F):5'- ACAGCTCAATGAGTGCTTGC -3'
(R):5'- GCTCAAGTCCTGAAGTAGCTGTAATG -3'

Posted On

2015-04-29