Incidental Mutation 'IGL03334:Asb6'
| ID |
416972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asb6
|
| Ensembl Gene |
ENSMUSG00000039483 |
| Gene Name |
ankyrin repeat and SOCS box-containing 6 |
| Synonyms |
2510004M11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
IGL03334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30713109-30718312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30714496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 205
(T205A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041726]
[ENSMUST00000041830]
[ENSMUST00000127566]
[ENSMUST00000128303]
[ENSMUST00000129628]
[ENSMUST00000129712]
[ENSMUST00000138889]
[ENSMUST00000152374]
|
| AlphaFold |
Q91ZU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041726
AA Change: T205A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: T205A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
31 |
63 |
3e-7 |
BLAST |
|
ANK
|
66 |
95 |
1.96e3 |
SMART |
|
ANK
|
100 |
129 |
1.91e-6 |
SMART |
|
ANK
|
134 |
164 |
1e0 |
SMART |
|
ANK
|
168 |
203 |
4.3e0 |
SMART |
|
Blast:ANK
|
256 |
287 |
1e-11 |
BLAST |
|
SOCS_box
|
370 |
410 |
1.72e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041830
|
| SMART Domains |
Protein: ENSMUSP00000035303
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
223 |
2.3e-99 |
PFAM |
|
Pfam:Ubie_methyltran
|
36 |
178 |
2.8e-7 |
PFAM |
|
Pfam:Methyltransf_2
|
59 |
190 |
3.6e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
61 |
168 |
1.5e-9 |
PFAM |
|
Pfam:Methyltransf_25
|
65 |
161 |
2.4e-8 |
PFAM |
|
Pfam:Methyltransf_12
|
66 |
163 |
5.2e-11 |
PFAM |
|
Pfam:Methyltransf_11
|
66 |
165 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127566
|
| SMART Domains |
Protein: ENSMUSP00000142189
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
118 |
6.7e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128303
|
| SMART Domains |
Protein: ENSMUSP00000123140
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
78 |
1.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129712
|
| SMART Domains |
Protein: ENSMUSP00000141222
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
42 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138889
|
| SMART Domains |
Protein: ENSMUSP00000141905
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
42 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152374
|
| SMART Domains |
Protein: ENSMUSP00000116760
Gene: ENSMUSG00000026857
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_PK
|
8 |
146 |
8.7e-65 |
PFAM |
|
Pfam:Methyltransf_11
|
66 |
146 |
4.7e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,302 (GRCm39) |
F762L |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,359,808 (GRCm39) |
E208V |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,023 (GRCm39) |
I286F |
probably benign |
Het |
| Arhgef5 |
T |
C |
6: 43,250,934 (GRCm39) |
S562P |
possibly damaging |
Het |
| B4galnt4 |
G |
A |
7: 140,647,354 (GRCm39) |
|
probably null |
Het |
| Clca4a |
A |
T |
3: 144,659,627 (GRCm39) |
M743K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,217 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,232,959 (GRCm39) |
Y359F |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,394,234 (GRCm39) |
V125D |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,373,890 (GRCm39) |
|
probably null |
Het |
| Fnbp1l |
A |
G |
3: 122,351,598 (GRCm39) |
V315A |
probably benign |
Het |
| Gm17174 |
T |
A |
14: 51,829,420 (GRCm39) |
R48* |
probably null |
Het |
| Golga4 |
C |
T |
9: 118,366,301 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,188,405 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,765,401 (GRCm39) |
K58* |
probably null |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,733,543 (GRCm39) |
S93P |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,757,751 (GRCm39) |
V594A |
probably benign |
Het |
| Krr1 |
T |
G |
10: 111,815,959 (GRCm39) |
S275R |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,354,571 (GRCm39) |
D792G |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,817,168 (GRCm39) |
R737H |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,418,522 (GRCm39) |
H292L |
probably damaging |
Het |
| Nell1 |
C |
A |
7: 49,712,359 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,242 (GRCm39) |
F412L |
probably benign |
Het |
| Nlrp3 |
T |
A |
11: 59,439,842 (GRCm39) |
I473N |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,063 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,844,810 (GRCm39) |
V1383A |
probably damaging |
Het |
| Prss48 |
T |
C |
3: 85,904,625 (GRCm39) |
E191G |
probably damaging |
Het |
| Psg25 |
T |
A |
7: 18,263,699 (GRCm39) |
L41F |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,481,276 (GRCm39) |
L78P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,197,280 (GRCm39) |
N3496K |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,420,104 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,172,491 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,788 (GRCm39) |
L45P |
probably damaging |
Het |
| Vmn2r35 |
T |
A |
7: 7,789,493 (GRCm39) |
Y748F |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,127,963 (GRCm39) |
R929W |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,577 (GRCm39) |
K224E |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,931,196 (GRCm39) |
F382I |
possibly damaging |
Het |
|
| Other mutations in Asb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03367:Asb6
|
APN |
2 |
30,714,691 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0853:Asb6
|
UTSW |
2 |
30,717,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1785:Asb6
|
UTSW |
2 |
30,717,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1786:Asb6
|
UTSW |
2 |
30,717,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2376:Asb6
|
UTSW |
2 |
30,714,414 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4133:Asb6
|
UTSW |
2 |
30,718,247 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4600:Asb6
|
UTSW |
2 |
30,714,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Asb6
|
UTSW |
2 |
30,718,215 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6031:Asb6
|
UTSW |
2 |
30,714,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Asb6
|
UTSW |
2 |
30,714,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6370:Asb6
|
UTSW |
2 |
30,717,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Asb6
|
UTSW |
2 |
30,714,472 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8710:Asb6
|
UTSW |
2 |
30,717,072 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8769:Asb6
|
UTSW |
2 |
30,718,143 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9360:Asb6
|
UTSW |
2 |
30,714,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation