Incidental Mutation 'IGL02221:Lin9'
ID |
285157 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lin9
|
Ensembl Gene |
ENSMUSG00000058729 |
Gene Name |
lin-9 DREAM MuvB core complex component |
Synonyms |
2700022J23Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02221
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180478399 bp (GRCm39)
|
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]
|
AlphaFold |
no structure available at present |
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: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
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 |
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 |
R9696:Lin9
|
UTSW |
1 |
180,496,733 (GRCm39) |
missense |
possibly damaging |
0.60 |
Z1177:Lin9
|
UTSW |
1 |
180,478,367 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2015-04-16 |