Incidental Mutation 'R5034:Lin9'
ID |
389422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lin9
|
Ensembl Gene |
ENSMUSG00000058729 |
Gene Name |
lin-9 DREAM MuvB core complex component |
Synonyms |
2700022J23Rik |
MMRRC Submission |
042625-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5034 (G1)
|
Quality Score |
225 |
Status
|
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
97% (67/69) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,136,090 (GRCm39) |
S482T |
probably benign |
Het |
Adam6b |
G |
T |
12: 113,454,547 (GRCm39) |
G455C |
probably damaging |
Het |
Ahsg |
C |
A |
16: 22,717,650 (GRCm39) |
P237Q |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,552,193 (GRCm39) |
S1312G |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,603,458 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,649 (GRCm39) |
H1677R |
probably damaging |
Het |
Cops7a |
A |
G |
6: 124,939,583 (GRCm39) |
|
probably null |
Het |
Csmd2 |
G |
A |
4: 127,952,901 (GRCm39) |
A117T |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,683 (GRCm39) |
R3153G |
possibly damaging |
Het |
Dctn4 |
A |
G |
18: 60,685,956 (GRCm39) |
N342D |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,499,004 (GRCm39) |
I953N |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,814,219 (GRCm39) |
S290P |
probably damaging |
Het |
Dsc1 |
T |
A |
18: 20,228,084 (GRCm39) |
Y424F |
possibly damaging |
Het |
Far2 |
C |
A |
6: 148,074,939 (GRCm39) |
L391M |
probably benign |
Het |
Foxd3 |
G |
A |
4: 99,545,327 (GRCm39) |
G156S |
probably damaging |
Het |
Galk2 |
A |
T |
2: 125,771,495 (GRCm39) |
E173D |
probably benign |
Het |
Hcar1 |
T |
C |
5: 124,017,732 (GRCm39) |
|
probably benign |
Het |
Hsd17b11 |
C |
T |
5: 104,166,087 (GRCm39) |
V91M |
possibly damaging |
Het |
Ighv1-77 |
C |
T |
12: 115,825,494 (GRCm39) |
C115Y |
probably damaging |
Het |
Ighv9-2 |
A |
G |
12: 114,073,025 (GRCm39) |
F9S |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,292,736 (GRCm39) |
|
probably benign |
Het |
Kif21a |
T |
A |
15: 90,852,561 (GRCm39) |
R890W |
probably null |
Het |
Magel2 |
A |
T |
7: 62,029,616 (GRCm39) |
H840L |
unknown |
Het |
Mrgpra4 |
A |
G |
7: 47,631,317 (GRCm39) |
F95L |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,104,440 (GRCm39) |
L1436P |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,334,976 (GRCm39) |
P943S |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,952,502 (GRCm39) |
R4153* |
probably null |
Het |
Oosp2 |
T |
C |
19: 11,628,899 (GRCm39) |
I67M |
probably damaging |
Het |
Or5m13b |
C |
A |
2: 85,753,891 (GRCm39) |
S93Y |
probably damaging |
Het |
Pcdh9 |
T |
A |
14: 93,564,285 (GRCm39) |
D1023V |
probably benign |
Het |
Pcdhb14 |
T |
C |
18: 37,581,859 (GRCm39) |
S322P |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,151,231 (GRCm39) |
D285G |
probably benign |
Het |
Pde5a |
G |
C |
3: 122,646,235 (GRCm39) |
G809R |
probably damaging |
Het |
Pde5a |
G |
T |
3: 122,646,236 (GRCm39) |
G809V |
probably damaging |
Het |
Pphln1 |
T |
C |
15: 93,350,010 (GRCm39) |
V120A |
probably benign |
Het |
Rictor |
T |
C |
15: 6,797,576 (GRCm39) |
S311P |
probably damaging |
Het |
Rilpl1 |
T |
C |
5: 124,631,887 (GRCm39) |
D153G |
probably damaging |
Het |
Rmdn3 |
G |
T |
2: 118,978,058 (GRCm39) |
A181E |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,301,633 (GRCm39) |
V369M |
probably damaging |
Het |
Scyl1 |
T |
A |
19: 5,810,022 (GRCm39) |
R601S |
probably benign |
Het |
Sdcbp |
G |
A |
4: 6,393,118 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,425,265 (GRCm39) |
T53A |
probably damaging |
Het |
Sfpq |
A |
G |
4: 126,917,462 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,127,134 (GRCm39) |
Y163H |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,812,048 (GRCm39) |
|
probably null |
Het |
Sspo |
A |
T |
6: 48,457,757 (GRCm39) |
N3231Y |
possibly damaging |
Het |
Tcf3 |
A |
G |
10: 80,253,377 (GRCm39) |
V218A |
possibly damaging |
Het |
Tgm3 |
T |
C |
2: 129,879,404 (GRCm39) |
V332A |
possibly damaging |
Het |
Tmprss11f |
C |
T |
5: 86,739,243 (GRCm39) |
|
probably benign |
Het |
Trbv4 |
A |
G |
6: 41,036,624 (GRCm39) |
T50A |
probably benign |
Het |
Trdv2-2 |
C |
A |
14: 54,198,882 (GRCm39) |
Y57* |
probably null |
Het |
Trim50 |
T |
C |
5: 135,396,147 (GRCm39) |
V365A |
possibly damaging |
Het |
Ubash3b |
T |
C |
9: 40,941,036 (GRCm39) |
Q245R |
probably benign |
Het |
Ulk3 |
T |
A |
9: 57,501,047 (GRCm39) |
V338E |
possibly damaging |
Het |
Usf3 |
A |
C |
16: 44,036,762 (GRCm39) |
K414T |
probably damaging |
Het |
Usp48 |
C |
T |
4: 137,334,068 (GRCm39) |
R161* |
probably null |
Het |
Vps18 |
A |
T |
2: 119,123,787 (GRCm39) |
D238V |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,390,611 (GRCm39) |
V368A |
probably damaging |
Het |
Zfp354c |
T |
C |
11: 50,705,866 (GRCm39) |
E403G |
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,508,072 (GRCm39) |
V476A |
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 |
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 |
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'- GCTACTTCAGGACTTGAGCTACC -3'
(R):5'- TGGAAATAGCAGAGTCCTGAAAACC -3'
Sequencing Primer
(F):5'- CAGGACTTGAGCTACCAATATTATG -3'
(R):5'- GAGTCCTGAAAACCCACATAGTG -3'
|
Posted On |
2016-06-06 |