Incidental Mutation 'IGL02370:Lin9'
ID |
290892 |
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 # |
IGL02370
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 180515583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 451
(C451F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192561
AA Change: C451F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729 AA Change: C451F
Domain | Start | End | E-Value | Type |
DIRP
|
143 |
248 |
2.2e-71 |
SMART |
coiled coil region
|
370 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192725
AA Change: C411F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729 AA Change: C411F
Domain | Start | End | E-Value | Type |
DIRP
|
103 |
208 |
2.2e-71 |
SMART |
coiled coil region
|
330 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193162
|
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 |
noncoding transcript
Transcript: ENSMUST00000194847
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732471J01Rik |
T |
C |
7: 25,084,313 (GRCm39) |
|
probably benign |
Het |
Abra |
T |
C |
15: 41,732,640 (GRCm39) |
D142G |
probably damaging |
Het |
Aldh9a1 |
A |
G |
1: 167,184,101 (GRCm39) |
N199D |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,753,933 (GRCm39) |
I1130N |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,013,085 (GRCm39) |
I312V |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,554,541 (GRCm39) |
M367V |
possibly damaging |
Het |
Clec12a |
C |
T |
6: 129,331,539 (GRCm39) |
A160V |
possibly damaging |
Het |
Cnnm1 |
T |
C |
19: 43,460,389 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
T |
13: 64,899,565 (GRCm39) |
M976K |
probably benign |
Het |
Cyp27b1 |
T |
C |
10: 126,886,543 (GRCm39) |
|
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,757,852 (GRCm39) |
L226Q |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,674,556 (GRCm39) |
V407A |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,624,937 (GRCm39) |
S201P |
probably damaging |
Het |
Exoc3 |
A |
T |
13: 74,340,880 (GRCm39) |
V308D |
probably benign |
Het |
Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
Gbx2 |
A |
T |
1: 89,856,871 (GRCm39) |
|
probably benign |
Het |
Hnf1b |
A |
C |
11: 83,773,559 (GRCm39) |
T253P |
possibly damaging |
Het |
Inhca |
A |
G |
9: 103,140,273 (GRCm39) |
V482A |
probably benign |
Het |
Itih5 |
A |
T |
2: 10,191,786 (GRCm39) |
Y107F |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,781,159 (GRCm39) |
N677S |
probably benign |
Het |
Knstrn |
T |
A |
2: 118,654,269 (GRCm39) |
|
probably null |
Het |
Mast1 |
A |
C |
8: 85,638,883 (GRCm39) |
V1482G |
probably benign |
Het |
Mroh4 |
A |
G |
15: 74,497,390 (GRCm39) |
F144L |
probably benign |
Het |
Myrf |
T |
C |
19: 10,191,504 (GRCm39) |
N945D |
probably benign |
Het |
Nfrkb |
G |
A |
9: 31,300,308 (GRCm39) |
G33D |
probably benign |
Het |
Or5m9b |
C |
A |
2: 85,905,132 (GRCm39) |
T16K |
probably damaging |
Het |
P2ry13 |
T |
C |
3: 59,116,886 (GRCm39) |
I297M |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,645 (GRCm39) |
|
probably null |
Het |
Pitpnm3 |
A |
G |
11: 71,942,684 (GRCm39) |
Y868H |
probably benign |
Het |
Pou2f3 |
G |
A |
9: 43,048,643 (GRCm39) |
R266W |
probably damaging |
Het |
Rcn3 |
T |
C |
7: 44,732,757 (GRCm39) |
S304G |
probably benign |
Het |
Rinl |
A |
G |
7: 28,494,397 (GRCm39) |
|
probably null |
Het |
Sema5a |
T |
C |
15: 32,682,445 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
A |
G |
8: 126,207,008 (GRCm39) |
L565P |
probably damaging |
Het |
Slc5a9 |
A |
G |
4: 111,734,826 (GRCm39) |
I656T |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,920,752 (GRCm39) |
K2404R |
probably damaging |
Het |
Tars3 |
C |
A |
7: 65,310,913 (GRCm39) |
P314Q |
probably benign |
Het |
Tbc1d14 |
C |
T |
5: 36,652,562 (GRCm39) |
V627I |
possibly damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,354 (GRCm39) |
D124G |
possibly damaging |
Het |
Tfcp2 |
A |
T |
15: 100,410,185 (GRCm39) |
V394D |
probably damaging |
Het |
Trerf1 |
C |
T |
17: 47,625,387 (GRCm39) |
|
noncoding transcript |
Het |
Ucp2 |
A |
G |
7: 100,147,591 (GRCm39) |
N190S |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,284,453 (GRCm39) |
Q498R |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,969,221 (GRCm39) |
I4N |
probably damaging |
Het |
Zfp574 |
T |
G |
7: 24,779,014 (GRCm39) |
I12S |
possibly damaging |
Het |
Zscan29 |
T |
A |
2: 120,994,314 (GRCm39) |
E522V |
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 |
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 |
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 |