Incidental Mutation 'R8776-TAIL:Lin9'
ID |
668053 |
Institutional Source |
Beutler Lab
|
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 # |
R8776-TAIL
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 180496450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192561]
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000192561
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729
Domain | Start | End | E-Value | Type |
DIRP
|
143 |
248 |
2.2e-71 |
SMART |
coiled coil region
|
370 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000192561
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729
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
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729
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 |
0.9498 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
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 |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2021-03-08 |