Incidental Mutation 'R4114:Ino80b'
| ID |
314545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ino80b
|
| Ensembl Gene |
ENSMUSG00000030034 |
| Gene Name |
INO80 complex subunit B |
| Synonyms |
HMG1YL4, Hmga1l4, Znhit4, Papa1, 2510009I23Rik |
| MMRRC Submission |
040990-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83098746-83102100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83101121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 149
(S149P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000205023]
[ENSMUST00000151393]
[ENSMUST00000146328]
[ENSMUST00000143814]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032109
AA Change: S119P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034
AA Change: S119P
| 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: ENSMUST00000113935
AA Change: S149P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034
AA Change: S149P
| 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 |
probably benign
Transcript: ENSMUST00000205023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142493
|
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143814
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
| Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
| Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
| Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
| Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,877,823 (GRCm39) |
V935A |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
| Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
| Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
| Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
probably benign |
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 |
|
R4207:Ino80b
|
UTSW |
6 |
83,099,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGCTCTCCATATGTTTGTCGAG -3'
(R):5'- CCCCTGATGGTGGTGGATAATG -3'
Sequencing Primer
(F):5'- CTCCATATGTTTGTCGAGTGAATAC -3'
(R):5'- TACCTCTGGAGCAGTACCG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation