Incidental Mutation 'IGL03367:Asb6'
| ID |
420148 |
| 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? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL03367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30713109-30718312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30714691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 185
(I185N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000041726
AA Change: I185N
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043462
Gene: ENSMUSG00000039483
AA Change: I185N
| 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: ENSMUST00000148036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147414
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143970
|
| 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 |
|---|
| Abcc5 |
A |
T |
16: 20,211,561 (GRCm39) |
|
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,875,438 (GRCm39) |
V138I |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,744,738 (GRCm39) |
I1278V |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,164,601 (GRCm39) |
V121A |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,302,593 (GRCm39) |
Y155H |
probably damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,409,512 (GRCm39) |
S8A |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,703,672 (GRCm39) |
D615E |
probably benign |
Het |
| Cntn6 |
G |
T |
6: 104,781,299 (GRCm39) |
G462C |
probably damaging |
Het |
| Col8a2 |
A |
G |
4: 126,205,991 (GRCm39) |
D667G |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,659 (GRCm39) |
K382E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,868,030 (GRCm39) |
|
probably null |
Het |
| Dkk2 |
C |
T |
3: 131,883,838 (GRCm39) |
T246I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,234,473 (GRCm39) |
L294P |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,313,701 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,636,712 (GRCm39) |
F2147L |
probably benign |
Het |
| Gm11149 |
G |
A |
9: 49,457,646 (GRCm39) |
|
probably benign |
Het |
| Gnrhr |
C |
T |
5: 86,330,190 (GRCm39) |
V277I |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,431,285 (GRCm39) |
E129V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,802,361 (GRCm39) |
T108A |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,008 (GRCm39) |
I196N |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,381 (GRCm39) |
H97R |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,473,289 (GRCm39) |
K653E |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,719,502 (GRCm39) |
D100Y |
probably damaging |
Het |
| Mettl15 |
T |
A |
2: 108,961,916 (GRCm39) |
H231L |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,536 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,242,120 (GRCm39) |
S997P |
probably benign |
Het |
| Pla2g1b |
T |
C |
5: 115,610,173 (GRCm39) |
C105R |
probably damaging |
Het |
| Ppil1 |
A |
T |
17: 29,471,218 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,382,193 (GRCm39) |
V168I |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,854,776 (GRCm39) |
T334A |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,679,005 (GRCm39) |
Y445C |
probably damaging |
Het |
| Sox14 |
A |
C |
9: 99,757,715 (GRCm39) |
I8S |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,176,541 (GRCm39) |
T44A |
probably damaging |
Het |
| Sult3a1 |
G |
T |
10: 33,753,342 (GRCm39) |
V213L |
probably benign |
Het |
| Vkorc1l1 |
C |
A |
5: 130,011,148 (GRCm39) |
Y111* |
probably null |
Het |
| Wdr47 |
G |
T |
3: 108,537,089 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,066,765 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Asb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03334:Asb6
|
APN |
2 |
30,714,496 (GRCm39) |
missense |
probably benign |
0.03 |
|
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