Incidental Mutation 'R4208:Ino80b'
ID |
319022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ino80b
|
Ensembl Gene |
ENSMUSG00000030034 |
Gene Name |
INO80 complex subunit B |
Synonyms |
HMG1YL4, Hmga1l4, Znhit4, Papa1, 2510009I23Rik |
MMRRC Submission |
041037-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4208 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83098746-83102100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 83099314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 178
(P178R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000205023]
[ENSMUST00000151393]
[ENSMUST00000143814]
[ENSMUST00000146328]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032109
AA Change: P178R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000032109 Gene: ENSMUSG00000030034 AA Change: P178R
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
low complexity region
|
129 |
137 |
N/A |
INTRINSIC |
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
Pfam:PAPA-1
|
198 |
282 |
1.6e-27 |
PFAM |
Pfam:zf-HIT
|
294 |
325 |
6.1e-10 |
PFAM |
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032111
|
SMART Domains |
Protein: ENSMUSP00000032111 Gene: ENSMUSG00000030035
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:WBP-1
|
71 |
177 |
1.4e-50 |
PFAM |
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032114
|
SMART Domains |
Protein: ENSMUSP00000032114 Gene: ENSMUSG00000030036
Domain | Start | End | E-Value | Type |
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_63N
|
91 |
267 |
1.1e-54 |
PFAM |
Pfam:Glyco_hydro_63
|
349 |
832 |
7e-202 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113935
AA Change: P208R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109568 Gene: ENSMUSG00000030034 AA Change: P208R
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
69 |
N/A |
INTRINSIC |
low complexity region
|
159 |
167 |
N/A |
INTRINSIC |
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
Pfam:PAPA-1
|
228 |
309 |
4e-23 |
PFAM |
Pfam:zf-HIT
|
324 |
355 |
4.3e-11 |
PFAM |
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113936
|
SMART Domains |
Protein: ENSMUSP00000109569 Gene: ENSMUSG00000030035
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
Pfam:WBP-1
|
36 |
142 |
1.2e-50 |
PFAM |
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123394
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131936
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131939
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205023
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145403
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151393
|
SMART Domains |
Protein: ENSMUSP00000145130 Gene: ENSMUSG00000030035
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
Pfam:WBP-1
|
71 |
96 |
4.4e-6 |
PFAM |
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146328
|
SMART Domains |
Protein: ENSMUSP00000122900 Gene: ENSMUSG00000030035
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
Pfam:WBP-1
|
70 |
176 |
1.8e-50 |
PFAM |
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1582 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,910,060 (GRCm39) |
L284P |
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,071,840 (GRCm39) |
H128R |
probably benign |
Het |
Aoc1l2 |
A |
T |
6: 48,908,581 (GRCm39) |
D527V |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,192,063 (GRCm39) |
S557P |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Casp12 |
T |
C |
9: 5,346,629 (GRCm39) |
L52P |
probably damaging |
Het |
Cep126 |
C |
T |
9: 8,100,822 (GRCm39) |
E571K |
probably damaging |
Het |
Cfhr1 |
A |
G |
1: 139,475,616 (GRCm39) |
|
probably benign |
Het |
Cmah |
A |
G |
13: 24,601,410 (GRCm39) |
|
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,539 (GRCm39) |
P504S |
probably damaging |
Het |
Ctnna3 |
T |
A |
10: 64,795,557 (GRCm39) |
D758E |
probably benign |
Het |
Cyp2c65 |
T |
C |
19: 39,079,099 (GRCm39) |
S393P |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
F13b |
G |
T |
1: 139,444,079 (GRCm39) |
W471L |
probably damaging |
Het |
Fam181a |
A |
G |
12: 103,282,173 (GRCm39) |
D26G |
probably damaging |
Het |
Gabpb2 |
A |
G |
3: 95,111,245 (GRCm39) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,534,879 (GRCm39) |
|
noncoding transcript |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,362,768 (GRCm39) |
E557G |
probably benign |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
Lsr |
A |
G |
7: 30,672,519 (GRCm39) |
I27T |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,426 (GRCm39) |
T571A |
probably benign |
Het |
Or4c1 |
A |
T |
2: 89,133,270 (GRCm39) |
I222N |
probably damaging |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
Padi1 |
C |
A |
4: 140,544,538 (GRCm39) |
V552L |
possibly damaging |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
RP24-126A19.1 |
C |
A |
5: 146,832,606 (GRCm39) |
R123L |
noncoding transcript |
Het |
Scn10a |
T |
A |
9: 119,445,842 (GRCm39) |
E1438V |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,547,793 (GRCm39) |
D458E |
probably damaging |
Het |
Slitrk3 |
T |
A |
3: 72,958,490 (GRCm39) |
Y94F |
possibly damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trbv23 |
A |
T |
6: 41,193,022 (GRCm39) |
I6F |
probably benign |
Het |
Vmn1r87 |
A |
G |
7: 12,866,185 (GRCm39) |
V34A |
probably benign |
Het |
Zc3h7a |
C |
T |
16: 10,982,508 (GRCm39) |
E6K |
possibly damaging |
Het |
Zfp606 |
G |
A |
7: 12,228,102 (GRCm39) |
C683Y |
probably damaging |
Het |
|
Other mutations in Ino80b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00943:Ino80b
|
APN |
6 |
83,101,129 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02063:Ino80b
|
APN |
6 |
83,101,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R0310:Ino80b
|
UTSW |
6 |
83,101,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R2022:Ino80b
|
UTSW |
6 |
83,101,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R4051:Ino80b
|
UTSW |
6 |
83,099,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4052:Ino80b
|
UTSW |
6 |
83,099,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4114:Ino80b
|
UTSW |
6 |
83,101,121 (GRCm39) |
missense |
probably benign |
0.00 |
R4207:Ino80b
|
UTSW |
6 |
83,099,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Ino80b
|
UTSW |
6 |
83,101,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R5023:Ino80b
|
UTSW |
6 |
83,102,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Ino80b
|
UTSW |
6 |
83,101,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Ino80b
|
UTSW |
6 |
83,102,066 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6467:Ino80b
|
UTSW |
6 |
83,101,112 (GRCm39) |
splice site |
probably null |
|
R7024:Ino80b
|
UTSW |
6 |
83,099,306 (GRCm39) |
missense |
probably benign |
0.03 |
R8816:Ino80b
|
UTSW |
6 |
83,098,861 (GRCm39) |
missense |
probably damaging |
0.98 |
R9238:Ino80b
|
UTSW |
6 |
83,102,314 (GRCm39) |
unclassified |
probably benign |
|
X0023:Ino80b
|
UTSW |
6 |
83,098,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTGTAGGCTGCAAAGG -3'
(R):5'- GAAGTGTGGTATTAAGGGTCCC -3'
Sequencing Primer
(F):5'- TGCAGTAGCGCACCATG -3'
(R):5'- GTGGCACAAGCATTTGATCC -3'
|
Posted On |
2015-06-10 |