Incidental Mutation 'IGL02374:Ino80d'
ID |
291017 |
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 # |
IGL02374
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63125220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097718]
[ENSMUST00000133236]
[ENSMUST00000137511]
[ENSMUST00000153992]
[ENSMUST00000165066]
[ENSMUST00000172416]
|
AlphaFold |
Q66JY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097718
AA Change: I81V
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095325 Gene: ENSMUSG00000040865 AA Change: I81V
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 |
possibly damaging
Transcript: ENSMUST00000133236
AA Change: I81V
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123430 Gene: ENSMUSG00000040865 AA Change: I81V
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
AA Change: I81V
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000119118 Gene: ENSMUSG00000040865 AA Change: I81V
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
AA Change: I81V
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115332 Gene: ENSMUSG00000040865 AA Change: I81V
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 benign
Transcript: ENSMUST00000165066
AA Change: I186V
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000130864 Gene: ENSMUSG00000040865 AA Change: I186V
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 |
possibly damaging
Transcript: ENSMUST00000172416
AA Change: I81V
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127378 Gene: ENSMUSG00000040865 AA Change: I81V
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably damaging |
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 |
IGL03201:Ino80d
|
APN |
1 |
63,097,467 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |