Incidental Mutation 'IGL01629:Atxn7l3'
| ID |
92882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn7l3
|
| Ensembl Gene |
ENSMUSG00000059995 |
| Gene Name |
ataxin 7-like 3 |
| Synonyms |
E030022H21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01629
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102180126-102187457 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 102183320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036376]
[ENSMUST00000073234]
[ENSMUST00000107132]
[ENSMUST00000107134]
[ENSMUST00000137387]
[ENSMUST00000156326]
|
| AlphaFold |
A2AWT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036376
|
| SMART Domains |
Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
UBQ
|
173 |
242 |
1.75e-9 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073234
|
| SMART Domains |
Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.3e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
202 |
239 |
8.8e-10 |
PFAM |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100387
|
| SMART Domains |
Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
UBQ
|
212 |
281 |
1.75e-9 |
SMART |
|
transmembrane domain
|
303 |
325 |
N/A |
INTRINSIC |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107132
|
| SMART Domains |
Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.1e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
209 |
246 |
7.8e-11 |
PFAM |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107134
|
| SMART Domains |
Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
80 |
112 |
1.3e-21 |
PFAM |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
159 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
202 |
239 |
8.8e-10 |
PFAM |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137387
|
| SMART Domains |
Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sgf11
|
76 |
108 |
2.6e-21 |
PFAM |
|
low complexity region
|
131 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
155 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
205 |
242 |
1.9e-9 |
PFAM |
|
low complexity region
|
278 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141516
|
| SMART Domains |
Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
51 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
113 |
150 |
6.7e-11 |
PFAM |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156326
|
| SMART Domains |
Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
UBQ
|
173 |
242 |
1.75e-9 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
transmembrane domain
|
296 |
318 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mouse embryonic stem cells homozygous for a knock-out allele exhibit strikingly increased H2B monoubiquitination (H2Bub) levels and fail to show loss of global H2Bub following inhibition of transcriptional elongation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Adm2 |
T |
A |
15: 89,207,605 (GRCm39) |
|
probably null |
Het |
| Alox12 |
G |
A |
11: 70,133,660 (GRCm39) |
P555S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,433,113 (GRCm39) |
S1798P |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,714,136 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
A |
8: 3,431,942 (GRCm39) |
C168S |
possibly damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,779,663 (GRCm39) |
K707E |
possibly damaging |
Het |
| Cdc5l |
G |
T |
17: 45,724,116 (GRCm39) |
D391E |
probably benign |
Het |
| Cmtm2b |
T |
C |
8: 105,056,420 (GRCm39) |
S110P |
possibly damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,387,840 (GRCm39) |
D207G |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,225,855 (GRCm39) |
F501L |
possibly damaging |
Het |
| Dnaaf6rt |
T |
A |
1: 31,262,014 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
T |
14: 31,014,277 (GRCm39) |
V1823M |
probably damaging |
Het |
| Gjb4 |
T |
C |
4: 127,245,419 (GRCm39) |
D174G |
possibly damaging |
Het |
| Gm45213 |
A |
G |
7: 65,711,962 (GRCm39) |
D58G |
probably damaging |
Het |
| Hes1 |
C |
T |
16: 29,884,976 (GRCm39) |
|
probably benign |
Het |
| Krt33b |
T |
A |
11: 99,920,386 (GRCm39) |
Q89L |
probably benign |
Het |
| Llcfc1 |
C |
A |
6: 41,661,459 (GRCm39) |
S3Y |
possibly damaging |
Het |
| Ltf |
A |
G |
9: 110,864,874 (GRCm39) |
N569S |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,732,731 (GRCm39) |
W320R |
probably damaging |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,353 (GRCm39) |
K213* |
probably null |
Het |
| Mslnl |
T |
G |
17: 25,963,749 (GRCm39) |
V388G |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,228 (GRCm39) |
I566V |
probably benign |
Het |
| Npy1r |
G |
A |
8: 67,156,873 (GRCm39) |
V98I |
probably benign |
Het |
| Phf1 |
G |
T |
17: 27,153,247 (GRCm39) |
A22S |
probably benign |
Het |
| Plcg1 |
T |
G |
2: 160,599,930 (GRCm39) |
F897V |
possibly damaging |
Het |
| Ric1 |
A |
T |
19: 29,581,381 (GRCm39) |
E1367D |
probably benign |
Het |
| Slc24a3 |
T |
C |
2: 145,482,130 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,968,565 (GRCm39) |
|
probably null |
Het |
| Speer4a2 |
C |
T |
5: 26,290,700 (GRCm39) |
S157N |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,129,677 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,051,377 (GRCm39) |
I4036V |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,429,030 (GRCm39) |
M890K |
possibly damaging |
Het |
| Tenm2 |
A |
T |
11: 36,755,711 (GRCm39) |
Y96N |
probably damaging |
Het |
| Ttll10 |
T |
A |
4: 156,131,351 (GRCm39) |
T233S |
probably benign |
Het |
| Vps39 |
G |
T |
2: 120,154,079 (GRCm39) |
L628M |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,600 (GRCm39) |
R105H |
probably damaging |
Het |
|
| Other mutations in Atxn7l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Atxn7l3
|
APN |
11 |
102,185,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0333:Atxn7l3
|
UTSW |
11 |
102,185,818 (GRCm39) |
splice site |
probably null |
|
|
R0967:Atxn7l3
|
UTSW |
11 |
102,183,261 (GRCm39) |
unclassified |
probably benign |
|
|
R0970:Atxn7l3
|
UTSW |
11 |
102,183,261 (GRCm39) |
unclassified |
probably benign |
|
|
R1073:Atxn7l3
|
UTSW |
11 |
102,183,261 (GRCm39) |
unclassified |
probably benign |
|
|
R1388:Atxn7l3
|
UTSW |
11 |
102,183,261 (GRCm39) |
unclassified |
probably benign |
|
|
R1518:Atxn7l3
|
UTSW |
11 |
102,185,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2119:Atxn7l3
|
UTSW |
11 |
102,182,807 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3708:Atxn7l3
|
UTSW |
11 |
102,182,705 (GRCm39) |
unclassified |
probably benign |
|
|
R3856:Atxn7l3
|
UTSW |
11 |
102,184,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Atxn7l3
|
UTSW |
11 |
102,184,747 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8878:Atxn7l3
|
UTSW |
11 |
102,183,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8913:Atxn7l3
|
UTSW |
11 |
102,185,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8973:Atxn7l3
|
UTSW |
11 |
102,183,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9045:Atxn7l3
|
UTSW |
11 |
102,183,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9624:Atxn7l3
|
UTSW |
11 |
102,182,852 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation