Incidental Mutation 'IGL01552:Ino80d'
| ID |
90619 |
| 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 # |
IGL01552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 63097136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097718]
[ENSMUST00000133236]
[ENSMUST00000137511]
[ENSMUST00000153992]
[ENSMUST00000165066]
[ENSMUST00000172416]
|
| AlphaFold |
Q66JY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097718
|
| SMART Domains |
Protein: ENSMUSP00000095325
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 |
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 benign
Transcript: ENSMUST00000133236
|
| SMART Domains |
Protein: ENSMUSP00000123430
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
|
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 benign
Transcript: ENSMUST00000165066
|
| SMART Domains |
Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
| 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 benign
Transcript: ENSMUST00000172416
|
| SMART Domains |
Protein: ENSMUSP00000127378
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 |
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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
| Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
| Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
| Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
| Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
| Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
| Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
| Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
| Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation