Incidental Mutation 'R4322:Atxn7l2'
| ID |
323861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l2
|
| Ensembl Gene |
ENSMUSG00000048997 |
| Gene Name |
ataxin 7-like 2 |
| Synonyms |
2610528J18Rik |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108109538-108117843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108113148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 218
(D218E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065664]
[ENSMUST00000102633]
[ENSMUST00000106655]
[ENSMUST00000117409]
[ENSMUST00000117784]
[ENSMUST00000119650]
[ENSMUST00000127157]
|
| AlphaFold |
Q8C8K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065664
|
| SMART Domains |
Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796
| Domain | Start | End | E-Value | Type |
|---|
|
B561
|
1 |
127 |
5.49e-40 |
SMART |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102633
AA Change: D253E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: D253E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
198 |
265 |
3.9e-29 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106655
|
| SMART Domains |
Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
B561
|
54 |
185 |
4.96e-47 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117409
AA Change: D221E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: D221E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
164 |
235 |
1.2e-31 |
PFAM |
|
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117784
AA Change: D253E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: D253E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
196 |
267 |
1.6e-31 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119650
AA Change: D218E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: D218E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
161 |
232 |
1.2e-31 |
PFAM |
|
low complexity region
|
298 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127157
|
| SMART Domains |
Protein: ENSMUSP00000119223
Gene: ENSMUSG00000048997
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
23 |
45 |
1e-5 |
BLAST |
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155099
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 19,007,960 (GRCm39) |
F264L |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atxn7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Atxn7l2
|
APN |
3 |
108,110,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atxn7l2
|
APN |
3 |
108,111,811 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03179:Atxn7l2
|
APN |
3 |
108,110,963 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Atxn7l2
|
UTSW |
3 |
108,112,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1454:Atxn7l2
|
UTSW |
3 |
108,115,748 (GRCm39) |
unclassified |
probably benign |
|
|
R2474:Atxn7l2
|
UTSW |
3 |
108,111,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4319:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Atxn7l2
|
UTSW |
3 |
108,111,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Atxn7l2
|
UTSW |
3 |
108,112,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Atxn7l2
|
UTSW |
3 |
108,112,978 (GRCm39) |
splice site |
probably null |
|
|
R7706:Atxn7l2
|
UTSW |
3 |
108,114,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8109:Atxn7l2
|
UTSW |
3 |
108,110,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8470:Atxn7l2
|
UTSW |
3 |
108,114,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8768:Atxn7l2
|
UTSW |
3 |
108,114,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Atxn7l2
|
UTSW |
3 |
108,116,290 (GRCm39) |
unclassified |
probably benign |
|
|
R9011:Atxn7l2
|
UTSW |
3 |
108,114,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9784:Atxn7l2
|
UTSW |
3 |
108,110,565 (GRCm39) |
missense |
probably null |
0.90 |
|
Z1176:Atxn7l2
|
UTSW |
3 |
108,112,982 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACATACCTGGGGAGTGCAC -3'
(R):5'- AGGAGAGTTTTCGTCTCCTGAG -3'
Sequencing Primer
(F):5'- CACAGTACGGATAGGTCTGCTTAGAC -3'
(R):5'- TCGTCTCCTGAGAGTAAAATGAACAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation