Incidental Mutation 'R0970:Atxn7l3'
ID |
84031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l3
|
Ensembl Gene |
ENSMUSG00000059995 |
Gene Name |
ataxin 7-like 3 |
Synonyms |
E030022H21Rik |
MMRRC Submission |
039099-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0970 (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: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
Cep70 |
A |
G |
9: 99,157,652 (GRCm39) |
K184E |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
Eno3 |
T |
C |
11: 70,551,628 (GRCm39) |
I196T |
probably damaging |
Het |
Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
Ppm1f |
T |
C |
16: 16,721,457 (GRCm39) |
|
probably null |
Het |
Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
Slc10a2 |
C |
G |
8: 5,155,115 (GRCm39) |
E23D |
probably benign |
Het |
Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
Stradb |
C |
T |
1: 59,016,219 (GRCm39) |
L3F |
possibly damaging |
Het |
Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
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 |
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 |
|
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 |