Incidental Mutation 'R5301:Asb1'
| ID |
475479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb1
|
| Ensembl Gene |
ENSMUSG00000026311 |
| Gene Name |
ankyrin repeat and SOCS box-containing 1 |
| Synonyms |
1700029O08Rik, 1700054C17Rik |
| MMRRC Submission |
042884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R5301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91468266-91487311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91482475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027538]
[ENSMUST00000086843]
[ENSMUST00000186068]
[ENSMUST00000188081]
[ENSMUST00000188879]
[ENSMUST00000190484]
|
| AlphaFold |
Q9WV74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027538
AA Change: I56V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027538
Gene: ENSMUSG00000026311
AA Change: I56V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
ANK
|
37 |
69 |
2.43e1 |
SMART |
|
ANK
|
78 |
107 |
7.48e0 |
SMART |
|
ANK
|
111 |
140 |
3.01e-4 |
SMART |
|
ANK
|
144 |
173 |
9.78e-4 |
SMART |
|
ANK
|
196 |
221 |
2.25e2 |
SMART |
|
Blast:ANK
|
235 |
266 |
2e-11 |
BLAST |
|
SOCS_box
|
297 |
336 |
6.36e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086843
AA Change: I296V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084054
Gene: ENSMUSG00000026311
AA Change: I296V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
29 |
61 |
2.43e1 |
SMART |
|
ANK
|
70 |
99 |
7.48e0 |
SMART |
|
ANK
|
103 |
132 |
3.01e-4 |
SMART |
|
ANK
|
136 |
165 |
9.78e-4 |
SMART |
|
ANK
|
188 |
213 |
2.25e2 |
SMART |
|
Blast:ANK
|
227 |
258 |
2e-11 |
BLAST |
|
SOCS_box
|
289 |
328 |
6.36e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186068
AA Change: Y66C
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140225
Gene: ENSMUSG00000026311
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Blast:ANK
|
37 |
70 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188081
|
| SMART Domains |
Protein: ENSMUSP00000140165
Gene: ENSMUSG00000026311
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
29 |
61 |
1.5e-1 |
SMART |
|
ANK
|
70 |
99 |
4.7e-2 |
SMART |
|
ANK
|
103 |
132 |
1.9e-6 |
SMART |
|
ANK
|
136 |
165 |
6.3e-6 |
SMART |
|
ANK
|
188 |
213 |
1.4e0 |
SMART |
|
Blast:ANK
|
227 |
258 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188879
AA Change: I288V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140731
Gene: ENSMUSG00000026311
AA Change: I288V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
29 |
61 |
2.43e1 |
SMART |
|
ANK
|
70 |
99 |
7.48e0 |
SMART |
|
ANK
|
103 |
132 |
3.01e-4 |
SMART |
|
ANK
|
136 |
165 |
9.78e-4 |
SMART |
|
ANK
|
188 |
213 |
2.25e2 |
SMART |
|
Blast:ANK
|
227 |
258 |
2e-11 |
BLAST |
|
SOCS_box
|
289 |
328 |
6.36e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190484
AA Change: I195V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140281
Gene: ENSMUSG00000026311
AA Change: I195V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
ANK
|
37 |
72 |
1.17e2 |
SMART |
|
ANK
|
95 |
120 |
2.25e2 |
SMART |
|
Blast:ANK
|
134 |
165 |
3e-12 |
BLAST |
|
Pfam:SOCS_box
|
196 |
218 |
2.2e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (52/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
| Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
| Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
| Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
| Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
| Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
| Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
| Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
| Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
| Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
probably benign |
Het |
|
| Other mutations in Asb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Asb1
|
APN |
1 |
91,479,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01748:Asb1
|
APN |
1 |
91,480,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02670:Asb1
|
APN |
1 |
91,474,640 (GRCm39) |
intron |
probably benign |
|
|
R1897:Asb1
|
UTSW |
1 |
91,474,647 (GRCm39) |
splice site |
probably null |
|
|
R2113:Asb1
|
UTSW |
1 |
91,471,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Asb1
|
UTSW |
1 |
91,480,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Asb1
|
UTSW |
1 |
91,482,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5103:Asb1
|
UTSW |
1 |
91,480,066 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6039:Asb1
|
UTSW |
1 |
91,474,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Asb1
|
UTSW |
1 |
91,474,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Asb1
|
UTSW |
1 |
91,480,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Asb1
|
UTSW |
1 |
91,480,206 (GRCm39) |
makesense |
probably null |
|
|
R9009:Asb1
|
UTSW |
1 |
91,480,205 (GRCm39) |
missense |
unknown |
|
|
R9013:Asb1
|
UTSW |
1 |
91,480,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9213:Asb1
|
UTSW |
1 |
91,482,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Asb1
|
UTSW |
1 |
91,468,551 (GRCm39) |
missense |
unknown |
|
|
R9286:Asb1
|
UTSW |
1 |
91,480,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9643:Asb1
|
UTSW |
1 |
91,480,116 (GRCm39) |
missense |
probably benign |
|
|
R9689:Asb1
|
UTSW |
1 |
91,474,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGAAGGTCATTTGTTCTCATC -3'
(R):5'- AGGTGATCGGCTTCCACATTG -3'
Sequencing Primer
(F):5'- GCCTTTTTCCAGGGCACTAAG -3'
(R):5'- GGCTTCCACATTGCAGTCAG -3'
|
| Posted On |
2017-04-27 |
Incidental Mutation