Incidental Mutation 'R8163:Lin9'
| ID |
633603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
067589-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180486691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 126
(R126W)
|
| 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 damaging
Transcript: ENSMUST00000192561
AA Change: R126W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: R126W
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
143 |
248 |
2.2e-71 |
SMART |
|
coiled coil region
|
370 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192725
AA Change: R86W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: R86W
| 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: R110W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729
AA Change: R110W
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
127 |
232 |
2.2e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194638
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
A |
G |
11: 109,304,883 (GRCm39) |
I11V |
unknown |
Het |
| Ago3 |
G |
T |
4: 126,262,377 (GRCm39) |
T391K |
probably benign |
Het |
| Asap1 |
A |
G |
15: 63,963,899 (GRCm39) |
W1100R |
probably damaging |
Het |
| Bbof1 |
T |
C |
12: 84,473,536 (GRCm39) |
S289P |
possibly damaging |
Het |
| Cd3d |
T |
C |
9: 44,896,952 (GRCm39) |
F109L |
probably benign |
Het |
| Cebpd |
A |
T |
16: 15,705,841 (GRCm39) |
E218V |
probably damaging |
Het |
| Cfl1 |
T |
C |
19: 5,543,528 (GRCm39) |
|
probably benign |
Het |
| Cpa2 |
A |
C |
6: 30,564,350 (GRCm39) |
I394L |
probably damaging |
Het |
| Ddx50 |
C |
A |
10: 62,475,678 (GRCm39) |
V348F |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Echs1 |
A |
G |
7: 139,692,357 (GRCm39) |
V130A |
possibly damaging |
Het |
| Eif2s2 |
A |
G |
2: 154,734,621 (GRCm39) |
S2P |
probably benign |
Het |
| Fastk |
A |
G |
5: 24,649,273 (GRCm39) |
I38T |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,055 (GRCm39) |
R3779C |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,881 (GRCm39) |
N2511I |
possibly damaging |
Het |
| Fbxw13 |
G |
A |
9: 109,012,122 (GRCm39) |
T315I |
probably benign |
Het |
| Fzd5 |
A |
T |
1: 64,774,352 (GRCm39) |
Y470N |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gpr25 |
T |
C |
1: 136,187,596 (GRCm39) |
D339G |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,233,907 (GRCm39) |
|
probably null |
Het |
| Il5 |
T |
A |
11: 53,614,813 (GRCm39) |
M125K |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,714 (GRCm39) |
T717I |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,823,014 (GRCm39) |
F403S |
probably damaging |
Het |
| Krt26 |
T |
C |
11: 99,220,498 (GRCm39) |
I451V |
probably benign |
Het |
| Krt88 |
T |
C |
15: 101,351,389 (GRCm39) |
L132P |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,518,966 (GRCm39) |
G245V |
probably damaging |
Het |
| Lap3 |
C |
T |
5: 45,669,389 (GRCm39) |
R513* |
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,506,688 (GRCm39) |
I1760K |
unknown |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,777 (GRCm39) |
R175H |
probably damaging |
Het |
| N4bp2l2 |
A |
G |
5: 150,584,774 (GRCm39) |
L60P |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,343,828 (GRCm39) |
F142S |
probably damaging |
Het |
| Nktr |
TAGAAG |
TAG |
9: 121,579,929 (GRCm39) |
|
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,552 (GRCm39) |
I27V |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,137,231 (GRCm39) |
H152Q |
probably damaging |
Het |
| Plaa |
C |
G |
4: 94,457,640 (GRCm39) |
V777L |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,908 (GRCm39) |
T187A |
probably benign |
Het |
| Pzp |
T |
G |
6: 128,489,157 (GRCm39) |
I485L |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,782,629 (GRCm39) |
Y703N |
probably damaging |
Het |
| Rngtt |
G |
A |
4: 33,325,109 (GRCm39) |
C110Y |
probably damaging |
Het |
| Rps10 |
G |
A |
17: 27,853,085 (GRCm39) |
R95C |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,745 (GRCm39) |
I1658F |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,306,433 (GRCm39) |
W702R |
|
Het |
| Taf6 |
G |
T |
5: 138,180,238 (GRCm39) |
Q339K |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tmem198 |
C |
T |
1: 75,459,671 (GRCm39) |
P209S |
possibly damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,603,660 (GRCm39) |
A613T |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,857,720 (GRCm39) |
E2651K |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,873,545 (GRCm39) |
V255I |
|
Het |
| Zfhx3 |
A |
G |
8: 109,675,925 (GRCm39) |
D2325G |
probably damaging |
Het |
| Zfp36l2 |
T |
C |
17: 84,494,551 (GRCm39) |
N29D |
possibly damaging |
Het |
| Zfp692 |
T |
A |
11: 58,201,199 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGGGAGGTTTGCTTGATAACAA -3'
(R):5'- AGGGAAGGGACACTGTGACT -3'
Sequencing Primer
(F):5'- GGCTGGCCTTGAACTCAGAAATTC -3'
(R):5'- AAGGGACACTGTGACTAGAATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation