Incidental Mutation 'IGL02794:Lin9'
ID |
359909 |
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 # |
IGL02794
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180479444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 59
(K59N)
|
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 damaging
Transcript: ENSMUST00000192561
AA Change: K75N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729 AA Change: K75N
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 damaging
Transcript: ENSMUST00000193892
AA Change: K59N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141530 Gene: ENSMUSG00000058729 AA Change: K59N
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
Akt2 |
G |
T |
7: 27,328,806 (GRCm39) |
R176L |
probably benign |
Het |
Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,071,653 (GRCm39) |
M481V |
probably benign |
Het |
Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
Gm1527 |
A |
G |
3: 28,949,829 (GRCm39) |
T30A |
unknown |
Het |
Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
Gucy2c |
T |
A |
6: 136,690,146 (GRCm39) |
Q744L |
probably damaging |
Het |
Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
Slc40a1 |
A |
T |
1: 45,948,668 (GRCm39) |
Y537* |
probably null |
Het |
Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
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 |
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 |
2015-12-18 |