Incidental Mutation 'R8421:Lin9'
| ID |
653174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
067898-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180468715-180518252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 180493365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 197
(F197Y)
|
| 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: F197Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: F197Y
| 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: F157Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: F157Y
| 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: F181Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729
AA Change: F181Y
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
127 |
232 |
2.2e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194638
|
| Meta Mutation Damage Score |
0.1191 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,880,486 (GRCm39) |
E1239G |
unknown |
Het |
| Actn3 |
T |
C |
19: 4,911,741 (GRCm39) |
M806V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,048,812 (GRCm39) |
T676A |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,379,085 (GRCm39) |
Q12K |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,384 (GRCm39) |
V157D |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,791 (GRCm39) |
M163K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,518,487 (GRCm39) |
M117K |
probably benign |
Het |
| Ccdc87 |
T |
C |
19: 4,891,313 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 105,348,602 (GRCm39) |
R142K |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,886,718 (GRCm39) |
V431I |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,966 (GRCm39) |
D719G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,948,595 (GRCm39) |
F88S |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,968,122 (GRCm38) |
D261G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,102,477 (GRCm39) |
D2641G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,480 (GRCm39) |
V2174D |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,142 (GRCm39) |
L244P |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,765,379 (GRCm39) |
D620E |
unknown |
Het |
| Ide |
A |
G |
19: 37,255,403 (GRCm39) |
V800A |
|
Het |
| Ikbkb |
A |
T |
8: 23,168,804 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 40,615,435 (GRCm39) |
Y3656F |
|
Het |
| Mapkbp1 |
C |
A |
2: 119,849,431 (GRCm39) |
N708K |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,279 (GRCm39) |
M179T |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Mrpl35 |
T |
C |
6: 71,793,151 (GRCm39) |
K167E |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,366,935 (GRCm39) |
V594A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,102,269 (GRCm39) |
T356A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,111,174 (GRCm39) |
Y1692C |
probably damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,247 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,698,491 (GRCm39) |
|
probably null |
Het |
| Oxnad1 |
T |
G |
14: 31,821,431 (GRCm39) |
I172S |
probably benign |
Het |
| Padi4 |
C |
A |
4: 140,475,533 (GRCm39) |
C544F |
probably damaging |
Het |
| Pard3 |
A |
C |
8: 127,867,158 (GRCm39) |
|
probably benign |
Het |
| Plvap |
G |
A |
8: 71,964,176 (GRCm39) |
T62M |
probably damaging |
Het |
| Potefam1 |
T |
A |
2: 111,048,955 (GRCm39) |
K275* |
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,822 (GRCm39) |
A463V |
probably damaging |
Het |
| Prss21 |
T |
A |
17: 24,088,342 (GRCm39) |
D102E |
possibly damaging |
Het |
| Psmb10 |
G |
T |
8: 106,663,342 (GRCm39) |
Q182K |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,849,968 (GRCm39) |
P319S |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm39) |
Q1161* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,826,929 (GRCm39) |
E112G |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,094,786 (GRCm39) |
T393A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,413,734 (GRCm39) |
E954G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,958,972 (GRCm39) |
I79F |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,561 (GRCm39) |
K135E |
probably benign |
Het |
| Ube2q2l |
T |
C |
6: 136,378,350 (GRCm39) |
E160G |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,178,304 (GRCm39) |
E3044G |
unknown |
Het |
| Usf3 |
A |
T |
16: 44,037,572 (GRCm39) |
Q684L |
possibly damaging |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,459 (GRCm39) |
M218K |
possibly damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r67 |
A |
C |
7: 84,785,893 (GRCm39) |
L704R |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,483 (GRCm39) |
T755A |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,017,331 (GRCm39) |
T381A |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,620 (GRCm39) |
D957G |
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 |
|
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 |
|
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'- ACAGGGAGTGCTTTAGCTGC -3'
(R):5'- CTTCCTAAGTGTAGAGTCGACGC -3'
Sequencing Primer
(F):5'- GTGCTTTAGCTGCTGAGTCATCAC -3'
(R):5'- CGCCATCTGGGTTACATGAAGATAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation