Incidental Mutation 'R7978:Ino80'
| ID |
651012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80
|
| Ensembl Gene |
ENSMUSG00000034154 |
| Gene Name |
INO80 complex subunit |
| Synonyms |
INO80, 2310079N15Rik, 4632409L19Rik, Inoc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119373042-119477687 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 119439393 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 590
(R590S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049920]
[ENSMUST00000110808]
|
| AlphaFold |
Q6ZPV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049920
AA Change: R590S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051845
Gene: ENSMUSG00000034154
AA Change: R590S
| 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 |
possibly damaging
Transcript: ENSMUST00000110808
AA Change: R590S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106431
Gene: ENSMUSG00000034154
AA Change: R590S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,888,668 (GRCm38) |
I342N |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,472,073 (GRCm38) |
N453I |
possibly damaging |
Het |
| Aox4 |
C |
A |
1: 58,235,207 (GRCm38) |
S384Y |
probably damaging |
Het |
| Ap1g1 |
C |
T |
8: 109,837,767 (GRCm38) |
R315* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,974,863 (GRCm38) |
Y741H |
probably damaging |
Het |
| Cacna2d2 |
C |
G |
9: 107,518,257 (GRCm38) |
L661V |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,567,713 (GRCm38) |
H64Q |
probably damaging |
Het |
| Ccdc93 |
C |
A |
1: 121,499,231 (GRCm38) |
N582K |
possibly damaging |
Het |
| Cdh7 |
A |
G |
1: 109,994,105 (GRCm38) |
|
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 134,236,031 (GRCm38) |
N78D |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 105,007,991 (GRCm38) |
V132A |
probably damaging |
Het |
| Cwc25 |
G |
A |
11: 97,753,218 (GRCm38) |
Q230* |
probably null |
Het |
| Dsel |
G |
A |
1: 111,859,719 (GRCm38) |
R1029* |
probably null |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,178,361 (GRCm38) |
|
probably benign |
Het |
| Fam120a |
T |
C |
13: 48,902,274 (GRCm38) |
Y646C |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,092,804 (GRCm38) |
W576R |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,389,347 (GRCm38) |
N1787S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,920,352 (GRCm38) |
E904G |
probably benign |
Het |
| Igkv17-121 |
C |
T |
6: 68,036,822 (GRCm38) |
T2I |
unknown |
Het |
| Intu |
T |
A |
3: 40,697,639 (GRCm38) |
I842N |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,134,087 (GRCm38) |
T1015S |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,411,205 (GRCm38) |
|
probably null |
Het |
| Kcna10 |
A |
G |
3: 107,194,347 (GRCm38) |
E98G |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,710,613 (GRCm38) |
Y570N |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,359,678 (GRCm38) |
I923V |
probably benign |
Het |
| Kptn |
A |
G |
7: 16,125,772 (GRCm38) |
D307G |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,253,114 (GRCm38) |
Y704H |
probably damaging |
Het |
| Olfr103 |
A |
G |
17: 37,336,501 (GRCm38) |
F244L |
probably benign |
Het |
| Olfr1186 |
T |
A |
2: 88,525,670 (GRCm38) |
L29* |
probably null |
Het |
| Olfr1312 |
T |
C |
2: 112,042,178 (GRCm38) |
T285A |
possibly damaging |
Het |
| Olfr48 |
A |
T |
2: 89,844,267 (GRCm38) |
C235* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,715,950 (GRCm38) |
V218M |
probably damaging |
Het |
| Prkar2b |
T |
C |
12: 31,963,025 (GRCm38) |
H364R |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,404,855 (GRCm38) |
F809S |
probably damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,251,268 (GRCm38) |
S59P |
|
Het |
| Rgr |
A |
G |
14: 37,044,688 (GRCm38) |
F134L |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 94,623,125 (GRCm38) |
R47L |
probably damaging |
Het |
| Scd3 |
G |
T |
19: 44,234,249 (GRCm38) |
E113* |
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,536,908 (GRCm38) |
A476V |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 118,193,655 (GRCm38) |
E560G |
unknown |
Het |
| Snx3 |
A |
G |
10: 42,502,350 (GRCm38) |
D7G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,660,334 (GRCm38) |
|
probably benign |
Het |
| Tbc1d12 |
A |
G |
19: 38,916,841 (GRCm38) |
M667V |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,306,199 (GRCm38) |
V81E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,239,954 (GRCm38) |
I395F |
probably damaging |
Het |
| Tes |
C |
A |
6: 17,096,323 (GRCm38) |
N103K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,487,665 (GRCm38) |
Y336C |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,139,860 (GRCm38) |
N491S |
probably damaging |
Het |
| Tomt |
T |
C |
7: 101,900,347 (GRCm38) |
I245V |
probably damaging |
Het |
| Trbc1 |
T |
C |
6: 41,538,302 (GRCm38) |
L28P |
|
Het |
| Trp63 |
T |
C |
16: 25,820,686 (GRCm38) |
V208A |
unknown |
Het |
| Ttll8 |
G |
T |
15: 88,915,362 (GRCm38) |
N625K |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,399,938 (GRCm38) |
W786R |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,947,592 (GRCm38) |
I703F |
probably damaging |
Het |
|
| Other mutations in Ino80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Ino80
|
APN |
2 |
119,456,718 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL01404:Ino80
|
APN |
2 |
119,456,718 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
IGL01985:Ino80
|
APN |
2 |
119,433,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02039:Ino80
|
APN |
2 |
119,380,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02187:Ino80
|
APN |
2 |
119,445,457 (GRCm38) |
splice site |
probably benign |
|
|
IGL02726:Ino80
|
APN |
2 |
119,442,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Chosen
|
UTSW |
2 |
119,382,269 (GRCm38) |
splice site |
probably null |
|
|
PIT4677001:Ino80
|
UTSW |
2 |
119,377,545 (GRCm38) |
missense |
probably benign |
|
|
R0004:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0004:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0057:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0113:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0114:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0115:Ino80
|
UTSW |
2 |
119,431,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0138:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0189:Ino80
|
UTSW |
2 |
119,379,679 (GRCm38) |
missense |
probably benign |
0.36 |
|
R0363:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0364:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0365:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Ino80
|
UTSW |
2 |
119,431,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0532:Ino80
|
UTSW |
2 |
119,381,983 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0580:Ino80
|
UTSW |
2 |
119,383,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0610:Ino80
|
UTSW |
2 |
119,382,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0675:Ino80
|
UTSW |
2 |
119,383,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1275:Ino80
|
UTSW |
2 |
119,427,055 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1470:Ino80
|
UTSW |
2 |
119,379,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1470:Ino80
|
UTSW |
2 |
119,379,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1506:Ino80
|
UTSW |
2 |
119,425,265 (GRCm38) |
nonsense |
probably null |
|
|
R1510:Ino80
|
UTSW |
2 |
119,450,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1570:Ino80
|
UTSW |
2 |
119,447,028 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1613:Ino80
|
UTSW |
2 |
119,392,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1673:Ino80
|
UTSW |
2 |
119,381,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1773:Ino80
|
UTSW |
2 |
119,418,409 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1795:Ino80
|
UTSW |
2 |
119,406,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2093:Ino80
|
UTSW |
2 |
119,426,670 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R2105:Ino80
|
UTSW |
2 |
119,431,929 (GRCm38) |
missense |
probably null |
1.00 |
|
R2113:Ino80
|
UTSW |
2 |
119,454,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3618:Ino80
|
UTSW |
2 |
119,446,872 (GRCm38) |
missense |
probably null |
0.81 |
|
R4572:Ino80
|
UTSW |
2 |
119,402,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4649:Ino80
|
UTSW |
2 |
119,431,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4919:Ino80
|
UTSW |
2 |
119,442,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5113:Ino80
|
UTSW |
2 |
119,431,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5138:Ino80
|
UTSW |
2 |
119,383,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5458:Ino80
|
UTSW |
2 |
119,412,429 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5499:Ino80
|
UTSW |
2 |
119,441,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5502:Ino80
|
UTSW |
2 |
119,402,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5531:Ino80
|
UTSW |
2 |
119,445,575 (GRCm38) |
missense |
probably benign |
|
|
R5740:Ino80
|
UTSW |
2 |
119,431,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5892:Ino80
|
UTSW |
2 |
119,439,547 (GRCm38) |
intron |
probably benign |
|
|
R5914:Ino80
|
UTSW |
2 |
119,458,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6000:Ino80
|
UTSW |
2 |
119,374,508 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6263:Ino80
|
UTSW |
2 |
119,383,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Ino80
|
UTSW |
2 |
119,451,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6942:Ino80
|
UTSW |
2 |
119,383,502 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7052:Ino80
|
UTSW |
2 |
119,426,587 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7100:Ino80
|
UTSW |
2 |
119,374,513 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7163:Ino80
|
UTSW |
2 |
119,392,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7187:Ino80
|
UTSW |
2 |
119,426,591 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7202:Ino80
|
UTSW |
2 |
119,374,437 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7218:Ino80
|
UTSW |
2 |
119,458,127 (GRCm38) |
missense |
probably benign |
|
|
R7389:Ino80
|
UTSW |
2 |
119,442,529 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7419:Ino80
|
UTSW |
2 |
119,380,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7437:Ino80
|
UTSW |
2 |
119,442,586 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7607:Ino80
|
UTSW |
2 |
119,382,269 (GRCm38) |
splice site |
probably null |
|
|
R7702:Ino80
|
UTSW |
2 |
119,442,573 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7975:Ino80
|
UTSW |
2 |
119,456,467 (GRCm38) |
splice site |
probably null |
|
|
R8376:Ino80
|
UTSW |
2 |
119,442,487 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8469:Ino80
|
UTSW |
2 |
119,379,593 (GRCm38) |
missense |
probably benign |
|
|
R8720:Ino80
|
UTSW |
2 |
119,402,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8751:Ino80
|
UTSW |
2 |
119,406,908 (GRCm38) |
missense |
probably benign |
|
|
R8958:Ino80
|
UTSW |
2 |
119,383,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8992:Ino80
|
UTSW |
2 |
119,379,578 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9319:Ino80
|
UTSW |
2 |
119,374,524 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9346:Ino80
|
UTSW |
2 |
119,426,958 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R9370:Ino80
|
UTSW |
2 |
119,402,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9621:Ino80
|
UTSW |
2 |
119,450,015 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9641:Ino80
|
UTSW |
2 |
119,445,484 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9650:Ino80
|
UTSW |
2 |
119,446,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTAGCCTCTAAGCAAGTCTG -3'
(R):5'- GGCACAGTTTCTCTTGTTACAG -3'
Sequencing Primer
(F):5'- GCCTCTAAGCAAGTCTGTAAGTG -3'
(R):5'- GTTTTCCTACAGCAGGCTA -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation