Incidental Mutation 'R1388:Atxn7l3'
| ID |
162505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l3
|
| Ensembl Gene |
ENSMUSG00000059995 |
| Gene Name |
ataxin 7-like 3 |
| Synonyms |
E030022H21Rik |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1388 (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: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
A |
G |
16: 26,782,662 (GRCm39) |
L80P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
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 |
|
|
R1073: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 |
2014-03-17 |
Incidental Mutation