Incidental Mutation 'R6283:Ino80d'
| ID |
508026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80d
|
| Ensembl Gene |
ENSMUSG00000040865 |
| Gene Name |
INO80 complex subunit D |
| Synonyms |
A430093A21Rik |
| MMRRC Submission |
044453-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63101285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 447
(R447Q)
|
| 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: R447Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: R447Q
| 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: R447Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: R447Q
| 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: R552Q
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: R552Q
| 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: R447Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: R447Q
| 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 |
0.1202 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
| Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
| Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
| Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,971,022 (GRCm39) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
| Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
| Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
| Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
| Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
| Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
| Inpp4b |
C |
T |
8: 82,497,462 (GRCm39) |
T94M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
| Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
| Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
| Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
| Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
| Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
| Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,608 (GRCm39) |
E629G |
probably benign |
Het |
| Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
| Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
| Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,260,084 (GRCm39) |
S772P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
| Trpm8 |
C |
T |
1: 88,276,054 (GRCm39) |
H551Y |
probably benign |
Het |
| Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
| Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
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 |
|
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 |
|
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'- GGGTTAGTAGCATCAGGAGC -3'
(R):5'- TTGAAGTATGTAGAGGATGGCCATC -3'
Sequencing Primer
(F):5'- TTAGTAGCATCAGGAGCACAGAG -3'
(R):5'- TGGCTGCGCACTAACATAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation