Incidental Mutation 'IGL02220:Lin9'
ID |
285096 |
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 # |
IGL02220
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 180494932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 218
(I218T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141503
(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 damaging
Transcript: ENSMUST00000192561
AA Change: I258T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729 AA Change: I258T
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: I218T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729 AA Change: I218T
Domain | Start | End | E-Value | Type |
DIRP
|
103 |
208 |
2.2e-71 |
SMART |
coiled coil region
|
330 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193892
AA Change: I242T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141530 Gene: ENSMUSG00000058729 AA Change: I242T
Domain | Start | End | E-Value | Type |
DIRP
|
127 |
232 |
2.2e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194638
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,310,395 (GRCm39) |
D460G |
probably damaging |
Het |
Ankrd9 |
T |
C |
12: 110,943,933 (GRCm39) |
M1V |
probably null |
Het |
Anks1 |
T |
C |
17: 28,273,681 (GRCm39) |
I977T |
probably damaging |
Het |
Bcar1 |
T |
C |
8: 112,437,839 (GRCm39) |
D767G |
possibly damaging |
Het |
Bcl6 |
A |
T |
16: 23,793,641 (GRCm39) |
I102N |
probably damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,392,078 (GRCm39) |
G473D |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,140,903 (GRCm39) |
H3148Q |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,141 (GRCm39) |
V1263A |
possibly damaging |
Het |
Crtc2 |
T |
C |
3: 90,166,455 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,067,738 (GRCm39) |
G825S |
possibly damaging |
Het |
Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
Dnah17 |
G |
T |
11: 117,963,793 (GRCm39) |
Y2506* |
probably null |
Het |
Enam |
T |
A |
5: 88,652,418 (GRCm39) |
L1309* |
probably null |
Het |
Fbxo15 |
G |
A |
18: 84,982,317 (GRCm39) |
|
probably null |
Het |
Fgfbp1 |
T |
C |
5: 44,136,828 (GRCm39) |
K155E |
probably damaging |
Het |
Foxj2 |
C |
T |
6: 122,815,540 (GRCm39) |
|
probably benign |
Het |
Fuca1 |
A |
G |
4: 135,666,530 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,184 (GRCm39) |
|
noncoding transcript |
Het |
H2-Eb2 |
C |
T |
17: 34,544,661 (GRCm39) |
|
probably benign |
Het |
Insr |
A |
T |
8: 3,209,578 (GRCm39) |
F1168L |
probably damaging |
Het |
Isx |
T |
A |
8: 75,619,333 (GRCm39) |
V175E |
possibly damaging |
Het |
Kansl3 |
T |
C |
1: 36,407,070 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
C |
A |
11: 115,736,205 (GRCm39) |
A126D |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,876,083 (GRCm39) |
E488G |
possibly damaging |
Het |
Maml3 |
A |
G |
3: 51,597,639 (GRCm39) |
V369A |
possibly damaging |
Het |
Mthfsl |
A |
G |
9: 88,597,708 (GRCm39) |
I14T |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,119,923 (GRCm39) |
|
probably benign |
Het |
Nfkbil1 |
T |
C |
17: 35,439,722 (GRCm39) |
R264G |
possibly damaging |
Het |
Or4c3d |
A |
G |
2: 89,882,038 (GRCm39) |
L210P |
probably damaging |
Het |
Pde5a |
G |
T |
3: 122,542,031 (GRCm39) |
A174S |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,606,382 (GRCm39) |
I1173N |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,035,512 (GRCm39) |
R1171L |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,172,131 (GRCm39) |
D595G |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,042,742 (GRCm39) |
|
probably benign |
Het |
Samsn1 |
A |
G |
16: 75,680,763 (GRCm39) |
|
probably null |
Het |
Sbno2 |
T |
A |
10: 79,908,202 (GRCm39) |
T66S |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,862,338 (GRCm39) |
I326F |
probably damaging |
Het |
Slc12a1 |
T |
C |
2: 125,030,190 (GRCm39) |
|
probably null |
Het |
Slc18a2 |
A |
G |
19: 59,264,988 (GRCm39) |
E324G |
probably benign |
Het |
Slc40a1 |
A |
T |
1: 45,950,495 (GRCm39) |
M319K |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,956,608 (GRCm39) |
Y287H |
possibly damaging |
Het |
Stx4a |
A |
G |
7: 127,441,672 (GRCm39) |
E63G |
possibly damaging |
Het |
Sv2a |
T |
C |
3: 96,098,032 (GRCm39) |
F545S |
probably benign |
Het |
Svop |
T |
C |
5: 114,203,589 (GRCm39) |
D65G |
probably benign |
Het |
Tex30 |
A |
T |
1: 44,126,182 (GRCm39) |
S182R |
probably benign |
Het |
Tmem121b |
T |
C |
6: 120,469,298 (GRCm39) |
D473G |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,210,941 (GRCm39) |
|
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,769,679 (GRCm39) |
S490P |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,115,746 (GRCm39) |
T82A |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,283,573 (GRCm39) |
D589G |
possibly damaging |
Het |
Zscan29 |
A |
C |
2: 120,997,170 (GRCm39) |
S184A |
probably damaging |
Het |
|
Other mutations in Lin9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |