Incidental Mutation 'R3978:Lin9'
| ID |
311104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
040941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3978 (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 180496357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 298
(I298N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000192561]
[ENSMUST00000192725]
[ENSMUST00000193892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085803
AA Change: I282N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082959
Gene: ENSMUSG00000058729
AA Change: I282N
| 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 |
possibly damaging
Transcript: ENSMUST00000192561
AA Change: I298N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729
AA Change: I298N
| Domain | Start | End | E-Value | Type |
|---|
|
DIRP
|
143 |
248 |
2.2e-71 |
SMART |
|
coiled coil region
|
370 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192725
AA Change: I258N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729
AA Change: I258N
| 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 |
0.2153 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,435 (GRCm39) |
T61A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,237,554 (GRCm39) |
V743I |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,261,503 (GRCm39) |
D453G |
probably damaging |
Het |
| Atp2b1 |
C |
A |
10: 98,832,795 (GRCm39) |
|
probably null |
Het |
| Azin1 |
A |
T |
15: 38,498,957 (GRCm39) |
N135K |
probably damaging |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,798,274 (GRCm39) |
T1662A |
probably benign |
Het |
| Cog8 |
T |
A |
8: 107,779,669 (GRCm39) |
I203F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,078 (GRCm39) |
H2094R |
probably damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,690,737 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,486,129 (GRCm39) |
E276G |
probably damaging |
Het |
| Fam171a1 |
A |
C |
2: 3,226,072 (GRCm39) |
M402L |
probably benign |
Het |
| Fga |
A |
T |
3: 82,937,490 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,197,207 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
C |
T |
3: 142,335,747 (GRCm39) |
T149I |
possibly damaging |
Het |
| Gm9631 |
A |
G |
11: 121,834,394 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,407,862 (GRCm39) |
T136I |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,583,354 (GRCm39) |
V172M |
probably damaging |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,349,073 (GRCm39) |
I535V |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,530 (GRCm39) |
V949A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il27ra |
G |
A |
8: 84,767,313 (GRCm39) |
T170I |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,623 (GRCm39) |
Y456H |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,808,753 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or5p61 |
A |
G |
7: 107,758,819 (GRCm39) |
M87T |
possibly damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,206,757 (GRCm39) |
H661L |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,242,253 (GRCm39) |
I13T |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,909 (GRCm39) |
M757T |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,522,393 (GRCm39) |
T296A |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,154,136 (GRCm39) |
R472H |
probably benign |
Het |
| Rhcg |
T |
C |
7: 79,267,147 (GRCm39) |
E43G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,759 (GRCm39) |
|
probably null |
Het |
| Rorb |
A |
G |
19: 18,915,254 (GRCm39) |
V468A |
probably benign |
Het |
| Rxrb |
C |
T |
17: 34,255,300 (GRCm39) |
P209L |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,929,092 (GRCm39) |
T1438K |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,201 (GRCm39) |
C163S |
possibly damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,239 (GRCm39) |
D110N |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,515,859 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,039 (GRCm39) |
V305A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,732,033 (GRCm39) |
M621L |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,546 (GRCm39) |
D301V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Syt15 |
T |
A |
14: 33,945,061 (GRCm39) |
C203S |
probably benign |
Het |
| Tdrd1 |
A |
G |
19: 56,855,066 (GRCm39) |
R1171G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,210 (GRCm39) |
V30A |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,785,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,881,670 (GRCm39) |
Y470F |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
Het |
| Wee1 |
G |
T |
7: 109,723,762 (GRCm39) |
D226Y |
probably damaging |
Het |
| Yap1 |
C |
T |
9: 8,004,285 (GRCm39) |
G36D |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,348 (GRCm39) |
I951T |
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 |
|
|
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'- AGTTACCGCCCCAGTCTTACAC -3'
(R):5'- TAGCTCAAGTCCTGAAGTAGCTG -3'
Sequencing Primer
(F):5'- ACAGCTCAATGAGTGCTTGC -3'
(R):5'- GCTCAAGTCCTGAAGTAGCTGTAATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation