Incidental Mutation 'R3884:Lin9'
| ID |
310576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
040797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 180515630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 427
(G427*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027778]
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027778
|
| SMART Domains |
Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
HOX
|
86 |
148 |
1.58e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085803
AA Change: G451*
|
| SMART Domains |
Protein: ENSMUSP00000082959
Gene: ENSMUSG00000058729
AA Change: G451*
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
127 |
232 |
2.93e-67 |
SMART |
|
coiled coil region
|
354 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192561
AA Change: G467*
|
| SMART Domains |
Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: G467*
| 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: ENSMUST00000192725
AA Change: G427*
|
| SMART Domains |
Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: G427*
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Gabra4 |
T |
C |
5: 71,814,600 (GRCm39) |
D40G |
probably benign |
Het |
| Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,632,359 (GRCm39) |
P398S |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
| Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
| Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
| Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,267,081 (GRCm39) |
N507S |
possibly damaging |
Het |
| Slc38a7 |
C |
T |
8: 96,572,809 (GRCm39) |
G141R |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,209,753 (GRCm39) |
M346T |
probably damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCACATTCATGTCCACAC -3'
(R):5'- AAGGAATTCAGGTCTCCTCCC -3'
Sequencing Primer
(F):5'- CACACATAGCATTGTCAGGGTGTG -3'
(R):5'- TCTGCCAGACACTACAGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation