Incidental Mutation 'R5332:Lin9'
| ID |
423295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5332 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180496763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 351
(L351I)
|
| 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 benign
Transcript: ENSMUST00000085803
AA Change: L335I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082959
Gene: ENSMUSG00000058729
AA Change: L335I
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
127 |
232 |
2.93e-67 |
SMART |
|
coiled coil region
|
354 |
412 |
N/A |
INTRINSIC |
|
| 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 benign
Transcript: ENSMUST00000192561
AA Change: L351I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: L351I
| 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
AA Change: L311I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: L311I
| 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 |
0.0673 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
| Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
| Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
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 |
|
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'- GCTACTTCAGGACTTGAGCTACC -3'
(R):5'- TTGGAAATAGCAGAGTCCTGAAAAC -3'
Sequencing Primer
(F):5'- CAGGACTTGAGCTACCAATATTATG -3'
(R):5'- GAGTCCTGAAAACCCACATAGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation