Incidental Mutation 'R0967:Atxn7l3'
| ID |
83917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l3
|
| Ensembl Gene |
ENSMUSG00000059995 |
| Gene Name |
ataxin 7-like 3 |
| Synonyms |
E030022H21Rik |
| MMRRC Submission |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
192 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102180126-102187457 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to G
at 102183261 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000145484
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly 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 |
|
IGL01629:Atxn7l3
|
APN |
11 |
102,183,320 (GRCm39) |
unclassified |
probably benign |
|
|
R0333:Atxn7l3
|
UTSW |
11 |
102,185,818 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAAAGGTCACTTACGCCGAG -3'
(R):5'- ACTGGGATCAGCTATGAGACCCTG -3'
Sequencing Primer
(F):5'- TGATCAGACCCTGACAAGGC -3'
(R):5'- TAGCAGCAGGAGCCATAGTTTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation