Incidental Mutation 'R3809:Lin9'
ID |
275077 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lin9
|
Ensembl Gene |
ENSMUSG00000058729 |
Gene Name |
lin-9 DREAM MuvB core complex component |
Synonyms |
2700022J23Rik |
MMRRC Submission |
040766-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3809 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 180486676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000085803
AA Change: I105V
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082959 Gene: ENSMUSG00000058729 AA Change: I105V
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 null
Transcript: ENSMUST00000192561
AA Change: I121V
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141331 Gene: ENSMUSG00000058729 AA Change: I121V
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: I81V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729 AA Change: I81V
Domain | Start | End | E-Value | Type |
DIRP
|
103 |
208 |
2.2e-71 |
SMART |
coiled coil region
|
330 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000192725
AA Change: I81V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141503 Gene: ENSMUSG00000058729 AA Change: I81V
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
AA Change: I105V
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141530 Gene: ENSMUSG00000058729 AA Change: I105V
Domain | Start | End | E-Value | Type |
DIRP
|
127 |
232 |
2.2e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194638
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
3425401B19Rik |
T |
C |
14: 32,385,650 (GRCm39) |
Y105C |
possibly damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Apol7e |
A |
T |
15: 77,602,262 (GRCm39) |
T287S |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,037,057 (GRCm39) |
N561K |
probably benign |
Het |
Armc3 |
G |
T |
2: 19,305,476 (GRCm39) |
A757S |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,799,240 (GRCm39) |
S295T |
probably benign |
Het |
Brd4 |
T |
A |
17: 32,430,244 (GRCm39) |
K686N |
possibly damaging |
Het |
Btnl6 |
T |
C |
17: 34,727,202 (GRCm39) |
T443A |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,306,922 (GRCm39) |
T1801A |
probably damaging |
Het |
Celsr2 |
G |
A |
3: 108,310,555 (GRCm39) |
T1509I |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,545,836 (GRCm39) |
M370I |
probably benign |
Het |
Col6a6 |
C |
G |
9: 105,657,891 (GRCm39) |
V774L |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,245,836 (GRCm39) |
S264R |
probably benign |
Het |
Ctnna2 |
A |
T |
6: 76,931,740 (GRCm39) |
V620D |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
Frmd4b |
G |
A |
6: 97,300,690 (GRCm39) |
L214F |
possibly damaging |
Het |
Fstl1 |
T |
A |
16: 37,647,113 (GRCm39) |
L161Q |
probably damaging |
Het |
Hdac1 |
A |
G |
4: 129,418,113 (GRCm39) |
F94S |
probably damaging |
Het |
Hlf |
T |
C |
11: 90,278,929 (GRCm39) |
D45G |
probably benign |
Het |
Hps3 |
A |
T |
3: 20,072,976 (GRCm39) |
M501K |
probably damaging |
Het |
Ighv14-4 |
A |
G |
12: 114,140,174 (GRCm39) |
Y79H |
probably damaging |
Het |
Ip6k1 |
T |
A |
9: 107,923,086 (GRCm39) |
V406D |
probably damaging |
Het |
Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,678,664 (GRCm39) |
T944A |
probably benign |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,614,136 (GRCm39) |
R195G |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,146,801 (GRCm39) |
I2821T |
possibly damaging |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,889,271 (GRCm39) |
K271N |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Or56b1 |
A |
T |
7: 104,285,540 (GRCm39) |
I220L |
possibly damaging |
Het |
Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Pfdn1 |
C |
T |
18: 36,584,145 (GRCm39) |
G63D |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,208 (GRCm39) |
F405L |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,992,209 (GRCm39) |
M50V |
probably null |
Het |
Plekha8 |
C |
A |
6: 54,596,334 (GRCm39) |
S198R |
probably benign |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rnf217 |
T |
A |
10: 31,379,804 (GRCm39) |
I473F |
possibly damaging |
Het |
Sec16a |
G |
C |
2: 26,331,825 (GRCm39) |
N63K |
possibly damaging |
Het |
Sik3 |
A |
G |
9: 46,130,784 (GRCm39) |
D1240G |
probably benign |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc2a3 |
A |
G |
6: 122,709,388 (GRCm39) |
I337T |
probably benign |
Het |
Tent4a |
A |
G |
13: 69,661,115 (GRCm39) |
V51A |
probably damaging |
Het |
Tinag |
C |
T |
9: 76,859,187 (GRCm39) |
D474N |
probably benign |
Het |
Ublcp1 |
A |
G |
11: 44,349,109 (GRCm39) |
F242L |
probably benign |
Het |
Ucp1 |
C |
A |
8: 84,017,270 (GRCm39) |
A20D |
probably damaging |
Het |
Ugt1a7c |
C |
T |
1: 88,023,104 (GRCm39) |
R88W |
possibly damaging |
Het |
Wipf3 |
A |
G |
6: 54,458,780 (GRCm39) |
D45G |
probably damaging |
Het |
Zfp592 |
G |
A |
7: 80,674,280 (GRCm39) |
A415T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTGTTATTGAGTCTTTTGAGCAC -3'
(R):5'- TACAGAAGAGGTGACAGCTTATAAC -3'
Sequencing Primer
(F):5'- GGCTGGCCTTGAACTCAGAAATTC -3'
(R):5'- GAAGAGGTGACAGCTTATAACATTTG -3'
|
Posted On |
2015-04-02 |