Incidental Mutation 'R6720:Ino80d'
| ID |
529518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80d
|
| Ensembl Gene |
ENSMUSG00000040865 |
| Gene Name |
INO80 complex subunit D |
| Synonyms |
A430093A21Rik |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63086960-63153693 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 63097769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 708
(S708R)
|
| 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: S708R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095325
Gene: ENSMUSG00000040865
AA Change: S708R
| 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: S708R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123430
Gene: ENSMUSG00000040865
AA Change: S708R
| 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: S813R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130864
Gene: ENSMUSG00000040865
AA Change: S813R
| 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: S708R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127378
Gene: ENSMUSG00000040865
AA Change: S708R
| 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 |
0.0886 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,771,973 (GRCm39) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,563,501 (GRCm39) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,449,134 (GRCm39) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,709,611 (GRCm39) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,856,291 (GRCm39) |
N286D |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
| Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
possibly 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 |
|
R6283:Ino80d
|
UTSW |
1 |
63,101,285 (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'- GTTGACCACTCCTCCAAGTG -3'
(R):5'- CTGGACGAGAACCTACTCCATTC -3'
Sequencing Primer
(F):5'- AAGTGGCACCTCGAGCTGTG -3'
(R):5'- AGATCCAGGGGCAGTTCTCTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation