Incidental Mutation 'R4207:Ino80b'
ID |
318961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ino80b
|
Ensembl Gene |
ENSMUSG00000030034 |
Gene Name |
INO80 complex subunit B |
Synonyms |
HMG1YL4, Hmga1l4, Znhit4, Papa1, 2510009I23Rik |
MMRRC Submission |
041036-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4207 (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 |
noncoding transcript
Transcript: ENSMUST00000131939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131936
|
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: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (60/60) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
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 |
Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
Flg |
A |
G |
3: 93,187,169 (GRCm39) |
Y207C |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,523,548 (GRCm39) |
D644V |
possibly damaging |
Het |
Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Stk39 |
G |
T |
2: 68,051,264 (GRCm39) |
T527K |
probably benign |
Het |
Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
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 |
Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
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 |
R4208: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'- AGAAGTGTGGTATTAAGGGTCCC -3'
Sequencing Primer
(F):5'- TGCAGTAGCGCACCATG -3'
(R):5'- GTGGCACAAGCATTTGATCC -3'
|
Posted On |
2015-06-10 |