Incidental Mutation 'R3708:Atxn7l3'
| ID |
259447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l3
|
| Ensembl Gene |
ENSMUSG00000059995 |
| Gene Name |
ataxin 7-like 3 |
| Synonyms |
E030022H21Rik |
| MMRRC Submission |
040701-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102180126-102187457 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 102182705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036376]
[ENSMUST00000073234]
[ENSMUST00000073234]
[ENSMUST00000107132]
[ENSMUST00000107132]
[ENSMUST00000107134]
[ENSMUST00000107134]
[ENSMUST00000137387]
[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: 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: 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 |
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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000156077
|
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
| Validation Efficiency |
98% (51/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc5 |
G |
T |
16: 20,190,930 (GRCm39) |
Q807K |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
| Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
| Gpr39 |
C |
T |
1: 125,800,349 (GRCm39) |
H367Y |
probably damaging |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Nup50l |
G |
A |
6: 96,142,933 (GRCm39) |
T37I |
possibly damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
| Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
| Or52r1c |
T |
G |
7: 102,735,501 (GRCm39) |
Y254D |
probably damaging |
Het |
| Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
| Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
| Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
| Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
| Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,300,136 (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 |
|
|
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 |
|
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'- GCACCCAAGTCAGTTGATGTC -3'
(R):5'- GCGTTCTTCCAGAGGTAGAG -3'
Sequencing Primer
(F):5'- CCCAAGTCAGTTGATGTCATCATAG -3'
(R):5'- GAGCTCCTTGGATAACGATGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation