Incidental Mutation 'R1073:Atxn7l3'
ID |
85540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l3
|
Ensembl Gene |
ENSMUSG00000059995 |
Gene Name |
ataxin 7-like 3 |
Synonyms |
E030022H21Rik |
MMRRC Submission |
039159-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1073 (G1)
|
Quality Score |
225 |
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: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
Validation Efficiency |
98% (40/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
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 |
|
R0967:Atxn7l3
|
UTSW |
11 |
102,183,261 (GRCm39) |
unclassified |
probably benign |
|
R0970: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 |
2013-11-18 |