Incidental Mutation 'R5634:Lin9'
| ID |
440011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lin9
|
| Ensembl Gene |
ENSMUSG00000058729 |
| Gene Name |
lin-9 DREAM MuvB core complex component |
| Synonyms |
2700022J23Rik |
| MMRRC Submission |
043285-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5634 (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: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (60/61) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,921 (GRCm39) |
|
probably benign |
Het |
| Aen |
A |
T |
7: 78,552,255 (GRCm39) |
T34S |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,302,875 (GRCm39) |
V280E |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,693 (GRCm39) |
H395R |
probably benign |
Het |
| Ccrl2 |
T |
A |
9: 110,885,055 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,902,800 (GRCm39) |
F497S |
probably damaging |
Het |
| Cfap54 |
C |
A |
10: 92,740,125 (GRCm39) |
|
probably benign |
Het |
| Cimap1b |
T |
A |
15: 89,262,410 (GRCm39) |
T70S |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,749 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,381,694 (GRCm39) |
Y1756N |
probably damaging |
Het |
| Cyp2c54 |
G |
A |
19: 40,060,858 (GRCm39) |
A95V |
possibly damaging |
Het |
| Dcdc5 |
A |
G |
2: 106,234,325 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
T |
C |
11: 117,943,752 (GRCm39) |
|
probably null |
Het |
| Eepd1 |
A |
T |
9: 25,514,849 (GRCm39) |
N552I |
probably benign |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,792 (GRCm39) |
R1218W |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,505,871 (GRCm39) |
I467F |
possibly damaging |
Het |
| Ffar4 |
GCTTCTT |
GCTT |
19: 38,102,373 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpha2 |
A |
G |
19: 6,276,890 (GRCm39) |
T25A |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,792,843 (GRCm39) |
I297F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,531 (GRCm39) |
G3924R |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,223,893 (GRCm39) |
D97Y |
probably damaging |
Het |
| Igdcc4 |
G |
A |
9: 65,041,828 (GRCm39) |
G1131D |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,578,536 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
C |
A |
1: 63,101,442 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,707 (GRCm39) |
T454A |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,437,084 (GRCm39) |
V360L |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,432,840 (GRCm39) |
N1267S |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,803,576 (GRCm39) |
N15S |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,698,915 (GRCm39) |
F22S |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,040 (GRCm39) |
C548* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,387 (GRCm39) |
E268G |
possibly damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,686,833 (GRCm39) |
C527R |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,601,570 (GRCm39) |
C412S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
A |
G |
2: 111,137,437 (GRCm39) |
I296V |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,372,429 (GRCm39) |
C215Y |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,803,255 (GRCm39) |
T343A |
probably benign |
Het |
| Pja2 |
C |
T |
17: 64,599,862 (GRCm39) |
V541M |
probably damaging |
Het |
| Plxna4 |
G |
A |
6: 32,214,658 (GRCm39) |
Q608* |
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,690,542 (GRCm39) |
D398E |
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,009,780 (GRCm39) |
D8V |
probably damaging |
Het |
| Pstk |
A |
C |
7: 130,973,072 (GRCm39) |
D57A |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,990,255 (GRCm39) |
I53V |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,728,924 (GRCm39) |
F159L |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,486,601 (GRCm39) |
M411V |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,220,830 (GRCm39) |
D943G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,742,540 (GRCm39) |
T790A |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,722,310 (GRCm39) |
L242P |
probably damaging |
Het |
| Snx25 |
T |
C |
8: 46,494,428 (GRCm39) |
D819G |
possibly damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,383,506 (GRCm39) |
V183A |
probably damaging |
Het |
| Tcf4 |
C |
A |
18: 69,769,918 (GRCm39) |
S8R |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,649,515 (GRCm39) |
D531G |
probably benign |
Het |
| Uap1l1 |
A |
C |
2: 25,254,145 (GRCm39) |
C271G |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,201,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vinac1 |
A |
T |
2: 128,881,406 (GRCm39) |
D173E |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,155 (GRCm39) |
M137K |
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 |
|
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 |
|
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 |
2016-11-08 |
Incidental Mutation