Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Lin9'

729262

Institutional Source

Beutler Lab

Gene Symbol

Lin9

Ensembl Gene

ENSMUSG00000058729

Gene Name

lin-9 DREAM MuvB core complex component

Synonyms

2700022J23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180468715-180518252 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180496733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 341 (S341C)

Ref Sequence

ENSEMBL: ENSMUSP00000141331 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192561
AA Change: S341C

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: S341C

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: S301C

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: S301C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly damaging	Het

Other mutations in Lin9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Lin9	APN	1	180,494,932 (GRCm39)	missense	probably damaging	1.00
IGL02221:Lin9	APN	1	180,478,399 (GRCm39)	missense	probably benign	0.03
IGL02233:Lin9	APN	1	180,516,865 (GRCm39)	missense	probably damaging	0.98
IGL02370:Lin9	APN	1	180,515,583 (GRCm39)	missense	probably damaging	1.00
IGL02794:Lin9	APN	1	180,479,444 (GRCm39)	missense	probably damaging	1.00
grosbeak	UTSW	1	180,496,450 (GRCm39)	critical splice donor site	probably null
linnet	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R0278:Lin9	UTSW	1	180,493,488 (GRCm39)	missense	probably damaging	1.00
R1488:Lin9	UTSW	1	180,515,850 (GRCm39)	missense	possibly damaging	0.61
R3808:Lin9	UTSW	1	180,486,676 (GRCm39)	missense	probably null	0.32
R3809:Lin9	UTSW	1	180,486,676 (GRCm39)	missense	probably null	0.32
R3884:Lin9	UTSW	1	180,515,630 (GRCm39)	nonsense	probably null
R3978:Lin9	UTSW	1	180,496,357 (GRCm39)	missense	possibly damaging	0.94
R4600:Lin9	UTSW	1	180,508,759 (GRCm39)	missense	probably damaging	0.99
R4625:Lin9	UTSW	1	180,516,845 (GRCm39)	missense	probably damaging	0.99
R4730:Lin9	UTSW	1	180,493,416 (GRCm39)	nonsense	probably null
R4987:Lin9	UTSW	1	180,496,329 (GRCm39)	missense	probably damaging	1.00
R5034:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5035:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5045:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5046:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5148:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5180:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5181:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5221:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5222:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5329:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5332:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5633:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5634:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5696:Lin9	UTSW	1	180,486,646 (GRCm39)	missense	probably benign	0.00
R5812:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5813:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5814:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R5851:Lin9	UTSW	1	180,496,763 (GRCm39)	missense	probably benign	0.01
R7046:Lin9	UTSW	1	180,494,935 (GRCm39)	missense	probably damaging	1.00
R7084:Lin9	UTSW	1	180,515,661 (GRCm39)	missense	probably benign	0.11
R8163:Lin9	UTSW	1	180,486,691 (GRCm39)	missense	probably damaging	1.00
R8421:Lin9	UTSW	1	180,493,365 (GRCm39)	missense	probably damaging	1.00
R8776:Lin9	UTSW	1	180,496,450 (GRCm39)	critical splice donor site	probably null
R8776-TAIL:Lin9	UTSW	1	180,496,450 (GRCm39)	critical splice donor site	probably null
R9264:Lin9	UTSW	1	180,494,912 (GRCm39)	missense	probably damaging	0.99
R9283:Lin9	UTSW	1	180,493,493 (GRCm39)	missense	probably damaging	1.00
Z1177:Lin9	UTSW	1	180,478,367 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCTACTTCAGGACTTGAGCTACC -3'
(R):5'- AGTCCTGAAAACCCACATAGTG -3'

Sequencing Primer
(F):5'- CAGGACTTGAGCTACCAATATTATG -3'
(R):5'- GTGAAGACATTCAGTTTCCC -3'

Posted On

2022-10-06