Incidental Mutation 'R5221:Lin9'
| ID |
402297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
042794-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5221 (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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
| C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
| Ccser1 |
T |
C |
6: 61,289,075 (GRCm39) |
S413P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,504,140 (GRCm39) |
C306S |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
| Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
| Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
| Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
| Kl |
G |
T |
5: 150,912,616 (GRCm39) |
L788F |
probably damaging |
Het |
| Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Sltm |
T |
G |
9: 70,486,685 (GRCm39) |
L450R |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
| Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
| Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
| Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
| Trappc14 |
C |
T |
5: 138,260,502 (GRCm39) |
S308N |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
| Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
possibly 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 |
|
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'- CTACTTCAGGACTTGAGCTACC -3'
(R):5'- TTGGAAATAGCAGAGTCCTGAAAAC -3'
Sequencing Primer
(F):5'- CAGGACTTGAGCTACCAATATTATG -3'
(R):5'- GAGTCCTGAAAACCCACATAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation