Incidental Mutation 'IGL03201:Ino80d'
ID |
412975 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ino80d
|
Ensembl Gene |
ENSMUSG00000040865 |
Gene Name |
INO80 complex subunit D |
Synonyms |
A430093A21Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03201
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 63097467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 809
(T809K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097718]
[ENSMUST00000133236]
[ENSMUST00000137511]
[ENSMUST00000153992]
[ENSMUST00000165066]
[ENSMUST00000172416]
|
AlphaFold |
Q66JY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097718
AA Change: T809K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095325 Gene: ENSMUSG00000040865 AA Change: T809K
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
101 |
N/A |
INTRINSIC |
low complexity region
|
153 |
158 |
N/A |
INTRINSIC |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
336 |
402 |
1.2e-22 |
PFAM |
low complexity region
|
414 |
459 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
low complexity region
|
647 |
666 |
N/A |
INTRINSIC |
low complexity region
|
706 |
722 |
N/A |
INTRINSIC |
low complexity region
|
802 |
821 |
N/A |
INTRINSIC |
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133236
AA Change: T809K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123430 Gene: ENSMUSG00000040865 AA Change: T809K
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
101 |
N/A |
INTRINSIC |
low complexity region
|
153 |
158 |
N/A |
INTRINSIC |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
337 |
401 |
4.3e-20 |
PFAM |
low complexity region
|
414 |
459 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
low complexity region
|
647 |
666 |
N/A |
INTRINSIC |
low complexity region
|
706 |
722 |
N/A |
INTRINSIC |
low complexity region
|
802 |
821 |
N/A |
INTRINSIC |
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137511
|
SMART Domains |
Protein: ENSMUSP00000119118 Gene: ENSMUSG00000040865
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
101 |
N/A |
INTRINSIC |
low complexity region
|
153 |
158 |
N/A |
INTRINSIC |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
336 |
402 |
4.3e-23 |
PFAM |
low complexity region
|
414 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153992
|
SMART Domains |
Protein: ENSMUSP00000115332 Gene: ENSMUSG00000040865
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
101 |
N/A |
INTRINSIC |
low complexity region
|
153 |
158 |
N/A |
INTRINSIC |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
336 |
402 |
4.3e-23 |
PFAM |
low complexity region
|
414 |
431 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165066
AA Change: T914K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130864 Gene: ENSMUSG00000040865 AA Change: T914K
Domain | Start | End | E-Value | Type |
Pfam:zf-C3Hc3H
|
18 |
79 |
5.9e-21 |
PFAM |
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
low complexity region
|
258 |
263 |
N/A |
INTRINSIC |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
442 |
506 |
7e-21 |
PFAM |
low complexity region
|
519 |
564 |
N/A |
INTRINSIC |
low complexity region
|
640 |
654 |
N/A |
INTRINSIC |
low complexity region
|
752 |
771 |
N/A |
INTRINSIC |
low complexity region
|
811 |
827 |
N/A |
INTRINSIC |
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1016 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172416
AA Change: T809K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127378 Gene: ENSMUSG00000040865 AA Change: T809K
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
101 |
N/A |
INTRINSIC |
low complexity region
|
153 |
158 |
N/A |
INTRINSIC |
low complexity region
|
249 |
260 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
Pfam:zf-C3Hc3H
|
336 |
402 |
1.2e-22 |
PFAM |
low complexity region
|
414 |
459 |
N/A |
INTRINSIC |
low complexity region
|
535 |
549 |
N/A |
INTRINSIC |
low complexity region
|
647 |
666 |
N/A |
INTRINSIC |
low complexity region
|
706 |
722 |
N/A |
INTRINSIC |
low complexity region
|
802 |
821 |
N/A |
INTRINSIC |
low complexity region
|
890 |
911 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188100
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
probably benign |
Het |
|
Other mutations in Ino80d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00813:Ino80d
|
APN |
1 |
63,132,462 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01552:Ino80d
|
APN |
1 |
63,097,136 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01960:Ino80d
|
APN |
1 |
63,097,306 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02374:Ino80d
|
APN |
1 |
63,125,220 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL03248:Ino80d
|
APN |
1 |
63,107,341 (GRCm39) |
critical splice donor site |
probably null |
|
Creepy
|
UTSW |
1 |
63,118,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
Friable
|
UTSW |
1 |
63,101,285 (GRCm39) |
missense |
probably damaging |
1.00 |
Herpes
|
UTSW |
1 |
63,104,993 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4696001:Ino80d
|
UTSW |
1 |
63,125,145 (GRCm39) |
missense |
probably benign |
|
R0153:Ino80d
|
UTSW |
1 |
63,097,477 (GRCm39) |
missense |
probably damaging |
0.97 |
R0371:Ino80d
|
UTSW |
1 |
63,097,115 (GRCm39) |
utr 3 prime |
probably benign |
|
R0416:Ino80d
|
UTSW |
1 |
63,125,435 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1738:Ino80d
|
UTSW |
1 |
63,132,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R2341:Ino80d
|
UTSW |
1 |
63,104,985 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2351:Ino80d
|
UTSW |
1 |
63,124,994 (GRCm39) |
missense |
probably benign |
0.00 |
R2870:Ino80d
|
UTSW |
1 |
63,100,198 (GRCm39) |
critical splice donor site |
probably null |
|
R2870:Ino80d
|
UTSW |
1 |
63,100,198 (GRCm39) |
critical splice donor site |
probably null |
|
R3814:Ino80d
|
UTSW |
1 |
63,113,583 (GRCm39) |
missense |
probably benign |
0.05 |
R3828:Ino80d
|
UTSW |
1 |
63,101,237 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3947:Ino80d
|
UTSW |
1 |
63,113,662 (GRCm39) |
missense |
probably benign |
0.16 |
R3949:Ino80d
|
UTSW |
1 |
63,113,662 (GRCm39) |
missense |
probably benign |
0.16 |
R5180:Ino80d
|
UTSW |
1 |
63,125,488 (GRCm39) |
start gained |
probably benign |
|
R5301:Ino80d
|
UTSW |
1 |
63,113,578 (GRCm39) |
missense |
probably benign |
|
R5338:Ino80d
|
UTSW |
1 |
63,098,098 (GRCm39) |
missense |
probably benign |
0.34 |
R5634:Ino80d
|
UTSW |
1 |
63,101,442 (GRCm39) |
intron |
probably benign |
|
R5716:Ino80d
|
UTSW |
1 |
63,097,856 (GRCm39) |
missense |
probably benign |
0.01 |
R5841:Ino80d
|
UTSW |
1 |
63,097,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R6219:Ino80d
|
UTSW |
1 |
63,118,206 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6222:Ino80d
|
UTSW |
1 |
63,097,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R6283:Ino80d
|
UTSW |
1 |
63,101,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:Ino80d
|
UTSW |
1 |
63,097,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R6835:Ino80d
|
UTSW |
1 |
63,113,485 (GRCm39) |
missense |
probably benign |
|
R6897:Ino80d
|
UTSW |
1 |
63,104,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Ino80d
|
UTSW |
1 |
63,104,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R7403:Ino80d
|
UTSW |
1 |
63,101,378 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7644:Ino80d
|
UTSW |
1 |
63,097,930 (GRCm39) |
missense |
probably benign |
0.18 |
R7816:Ino80d
|
UTSW |
1 |
63,125,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Ino80d
|
UTSW |
1 |
63,097,837 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9169:Ino80d
|
UTSW |
1 |
63,097,930 (GRCm39) |
missense |
probably benign |
0.18 |
R9170:Ino80d
|
UTSW |
1 |
63,132,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Ino80d
|
UTSW |
1 |
63,104,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Ino80d
|
UTSW |
1 |
63,097,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9618:Ino80d
|
UTSW |
1 |
63,101,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |