Incidental Mutation 'R7052:Ino80'
| ID |
547640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80
|
| Ensembl Gene |
ENSMUSG00000034154 |
| Gene Name |
INO80 complex subunit |
| Synonyms |
INO80, Inoc1, 4632409L19Rik, 2310079N15Rik |
| MMRRC Submission |
045149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R7052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119203523-119308168 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 119257068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049920]
[ENSMUST00000110808]
|
| AlphaFold |
Q6ZPV2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049920
|
| SMART Domains |
Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
131 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
242 |
N/A |
INTRINSIC |
|
Pfam:DBINO
|
275 |
407 |
6.6e-50 |
PFAM |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
DEXDc
|
516 |
714 |
6.27e-37 |
SMART |
|
low complexity region
|
907 |
923 |
N/A |
INTRINSIC |
|
HELICc
|
1134 |
1217 |
2.86e-22 |
SMART |
|
low complexity region
|
1270 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1436 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1450 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1483 |
N/A |
INTRINSIC |
|
low complexity region
|
1510 |
1521 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110808
|
| SMART Domains |
Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
131 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
242 |
N/A |
INTRINSIC |
|
Pfam:DBINO
|
272 |
412 |
8.8e-55 |
PFAM |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
DEXDc
|
516 |
714 |
6.27e-37 |
SMART |
|
low complexity region
|
907 |
923 |
N/A |
INTRINSIC |
|
PDB:3MWY|W
|
1098 |
1136 |
6e-7 |
PDB |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele die around E7.5 and show absence of anterior and distal visceral endoderm. Another null allele results in embryonic lethality by E13.5-E14.5 with severe growth retardation and developmental defects. Heterozygotes show defects in hindlimb extension reflex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,604,261 (GRCm39) |
R658H |
probably benign |
Het |
| Als2cl |
C |
T |
9: 110,727,151 (GRCm39) |
R906C |
probably damaging |
Het |
| Asb8 |
T |
C |
15: 98,034,282 (GRCm39) |
H91R |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
| Bves |
G |
A |
10: 45,222,386 (GRCm39) |
R172H |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,763,177 (GRCm39) |
N59I |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,724 (GRCm39) |
V782D |
probably damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,096,466 (GRCm39) |
Y1544F |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,554 (GRCm39) |
L383S |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,056 (GRCm39) |
N119K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,237,569 (GRCm39) |
D1023E |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,172,262 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
A |
14: 45,544,040 (GRCm39) |
K55* |
probably null |
Het |
| Fam209 |
G |
A |
2: 172,314,751 (GRCm39) |
G80D |
possibly damaging |
Het |
| Fam89b |
G |
A |
19: 5,779,276 (GRCm39) |
R94C |
probably damaging |
Het |
| Fut1 |
A |
G |
7: 45,269,181 (GRCm39) |
*323W |
probably null |
Het |
| Garin2 |
C |
T |
12: 78,766,176 (GRCm39) |
T315I |
probably benign |
Het |
| Gm47985 |
T |
A |
1: 151,058,890 (GRCm39) |
F177Y |
possibly damaging |
Het |
| Gstm7 |
T |
A |
3: 107,838,633 (GRCm39) |
D37V |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,503,484 (GRCm39) |
S38C |
possibly damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,343 (GRCm39) |
T70A |
|
Het |
| Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,310,785 (GRCm39) |
N197S |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,040 (GRCm39) |
C86* |
probably null |
Het |
| Lonp1 |
A |
T |
17: 56,933,549 (GRCm39) |
F109I |
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,046,074 (GRCm39) |
S312L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,525 (GRCm39) |
Q706L |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,008,874 (GRCm39) |
H315R |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,456,053 (GRCm39) |
R146P |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,358,855 (GRCm39) |
Y794H |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,949 (GRCm39) |
N886K |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,192,077 (GRCm39) |
R1047G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,887,027 (GRCm39) |
L31Q |
probably damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,990 (GRCm39) |
S155T |
probably benign |
Het |
| Or6c38 |
T |
C |
10: 128,929,744 (GRCm39) |
Y33C |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,012 (GRCm39) |
N495S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,565,497 (GRCm39) |
Q1070R |
probably benign |
Het |
| Pax1 |
G |
A |
2: 147,207,824 (GRCm39) |
R232H |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,582 (GRCm39) |
N511S |
probably damaging |
Het |
| Pigs |
C |
T |
11: 78,232,211 (GRCm39) |
L448F |
probably damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,533,077 (GRCm39) |
Y235C |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,558,212 (GRCm39) |
I297K |
possibly damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,742,684 (GRCm39) |
V82I |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,074 (GRCm39) |
L17P |
probably damaging |
Het |
| Riok1 |
C |
T |
13: 38,220,991 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
C |
A |
9: 75,568,664 (GRCm39) |
E358* |
probably null |
Het |
| Siglec15 |
T |
C |
18: 78,091,946 (GRCm39) |
E85G |
probably damaging |
Het |
| Snx20 |
T |
C |
8: 89,356,606 (GRCm39) |
H70R |
probably benign |
Het |
| Spi1 |
T |
A |
2: 90,943,685 (GRCm39) |
S76R |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,111 (GRCm39) |
S463P |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,080,126 (GRCm39) |
I13T |
unknown |
Het |
| Tmem132e |
T |
C |
11: 82,328,189 (GRCm39) |
S406P |
probably damaging |
Het |
| Top1mt |
T |
C |
15: 75,540,560 (GRCm39) |
N237S |
possibly damaging |
Het |
| Trav6d-4 |
G |
A |
14: 52,991,053 (GRCm39) |
V30M |
possibly damaging |
Het |
| Trp73 |
A |
T |
4: 154,149,140 (GRCm39) |
M217K |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,414,134 (GRCm39) |
I32T |
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,396 (GRCm39) |
M157T |
probably benign |
Het |
| Vmn2r100 |
C |
T |
17: 19,751,556 (GRCm39) |
S533F |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,507 (GRCm39) |
M160K |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ino80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Ino80
|
APN |
2 |
119,287,199 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01404:Ino80
|
APN |
2 |
119,287,199 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01985:Ino80
|
APN |
2 |
119,263,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02039:Ino80
|
APN |
2 |
119,210,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Ino80
|
APN |
2 |
119,275,938 (GRCm39) |
splice site |
probably benign |
|
|
IGL02726:Ino80
|
APN |
2 |
119,272,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chosen
|
UTSW |
2 |
119,212,750 (GRCm39) |
splice site |
probably null |
|
|
PIT4677001:Ino80
|
UTSW |
2 |
119,208,026 (GRCm39) |
missense |
probably benign |
|
|
R0004:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0113:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Ino80
|
UTSW |
2 |
119,261,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0189:Ino80
|
UTSW |
2 |
119,210,160 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0363:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Ino80
|
UTSW |
2 |
119,261,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Ino80
|
UTSW |
2 |
119,212,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0580:Ino80
|
UTSW |
2 |
119,213,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Ino80
|
UTSW |
2 |
119,213,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Ino80
|
UTSW |
2 |
119,213,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1275:Ino80
|
UTSW |
2 |
119,257,536 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1470:Ino80
|
UTSW |
2 |
119,210,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Ino80
|
UTSW |
2 |
119,210,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Ino80
|
UTSW |
2 |
119,255,746 (GRCm39) |
nonsense |
probably null |
|
|
R1510:Ino80
|
UTSW |
2 |
119,280,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Ino80
|
UTSW |
2 |
119,277,509 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1613:Ino80
|
UTSW |
2 |
119,223,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Ino80
|
UTSW |
2 |
119,212,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Ino80
|
UTSW |
2 |
119,248,890 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1795:Ino80
|
UTSW |
2 |
119,237,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Ino80
|
UTSW |
2 |
119,257,151 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2105:Ino80
|
UTSW |
2 |
119,262,410 (GRCm39) |
missense |
probably null |
1.00 |
|
R2113:Ino80
|
UTSW |
2 |
119,284,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3618:Ino80
|
UTSW |
2 |
119,277,353 (GRCm39) |
missense |
probably null |
0.81 |
|
R4572:Ino80
|
UTSW |
2 |
119,232,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Ino80
|
UTSW |
2 |
119,261,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Ino80
|
UTSW |
2 |
119,273,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Ino80
|
UTSW |
2 |
119,262,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Ino80
|
UTSW |
2 |
119,213,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Ino80
|
UTSW |
2 |
119,242,910 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5499:Ino80
|
UTSW |
2 |
119,272,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Ino80
|
UTSW |
2 |
119,232,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Ino80
|
UTSW |
2 |
119,276,056 (GRCm39) |
missense |
probably benign |
|
|
R5740:Ino80
|
UTSW |
2 |
119,261,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Ino80
|
UTSW |
2 |
119,270,028 (GRCm39) |
intron |
probably benign |
|
|
R5914:Ino80
|
UTSW |
2 |
119,288,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6000:Ino80
|
UTSW |
2 |
119,204,989 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6263:Ino80
|
UTSW |
2 |
119,213,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Ino80
|
UTSW |
2 |
119,281,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Ino80
|
UTSW |
2 |
119,213,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Ino80
|
UTSW |
2 |
119,204,994 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7163:Ino80
|
UTSW |
2 |
119,223,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Ino80
|
UTSW |
2 |
119,257,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7202:Ino80
|
UTSW |
2 |
119,204,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7218:Ino80
|
UTSW |
2 |
119,288,608 (GRCm39) |
missense |
probably benign |
|
|
R7389:Ino80
|
UTSW |
2 |
119,273,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7419:Ino80
|
UTSW |
2 |
119,210,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7437:Ino80
|
UTSW |
2 |
119,273,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7607:Ino80
|
UTSW |
2 |
119,212,750 (GRCm39) |
splice site |
probably null |
|
|
R7702:Ino80
|
UTSW |
2 |
119,273,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7975:Ino80
|
UTSW |
2 |
119,286,948 (GRCm39) |
splice site |
probably null |
|
|
R7978:Ino80
|
UTSW |
2 |
119,269,874 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8376:Ino80
|
UTSW |
2 |
119,272,968 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8469:Ino80
|
UTSW |
2 |
119,210,074 (GRCm39) |
missense |
probably benign |
|
|
R8720:Ino80
|
UTSW |
2 |
119,232,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Ino80
|
UTSW |
2 |
119,237,389 (GRCm39) |
missense |
probably benign |
|
|
R8958:Ino80
|
UTSW |
2 |
119,213,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Ino80
|
UTSW |
2 |
119,210,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9319:Ino80
|
UTSW |
2 |
119,205,005 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9346:Ino80
|
UTSW |
2 |
119,257,439 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9370:Ino80
|
UTSW |
2 |
119,232,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Ino80
|
UTSW |
2 |
119,280,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9641:Ino80
|
UTSW |
2 |
119,275,965 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9650:Ino80
|
UTSW |
2 |
119,277,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTAAGGTTCTTAAGGCC -3'
(R):5'- TCCACAAGGGACAGTAATGACTG -3'
Sequencing Primer
(F):5'- CCATCTAATGGGAGCCTTAATAATGC -3'
(R):5'- GACTGACCATTTCTTTTCTTAGGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation