Incidental Mutation 'R3828:Ino80d'
| ID |
273832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80d
|
| Ensembl Gene |
ENSMUSG00000040865 |
| Gene Name |
INO80 complex subunit D |
| Synonyms |
A430093A21Rik |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63101237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 463
(M463K)
|
| 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: M463K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: M463K
| 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: M463K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: M463K
| 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 |
possibly damaging
Transcript: ENSMUST00000165066
AA Change: M568K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: M568K
| 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: M463K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: M463K
| 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
|
| Meta Mutation Damage Score |
0.1162 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACATGCCACTGTTCAAAGGG -3'
(R):5'- GCGCACTAACATACCAGGAGTC -3'
Sequencing Primer
(F):5'- GCCACTGTTCAAAGGGTTTTAAGC -3'
(R):5'- TGGAGAAGGTTCTTAAAAGTGTTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation