Incidental Mutation 'R3054:Asb7'
| ID |
265073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb7
|
| Ensembl Gene |
ENSMUSG00000030509 |
| Gene Name |
ankyrin repeat and SOCS box-containing 7 |
| Synonyms |
Asb-7, D030055C23Rik |
| MMRRC Submission |
040563-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
R3054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
66294313-66339344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66328959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 27
(V27D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124899]
[ENSMUST00000131320]
|
| AlphaFold |
Q91ZU0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000068980
|
| SMART Domains |
Protein: ENSMUSP00000070866
Gene: ENSMUSG00000030509
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
13 |
42 |
4.44e2 |
SMART |
|
ANK
|
46 |
75 |
2.68e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124899
AA Change: V27D
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122395
Gene: ENSMUSG00000030509
AA Change: V27D
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
13 |
42 |
4.44e2 |
SMART |
|
ANK
|
46 |
75 |
2.62e-4 |
SMART |
|
ANK
|
80 |
112 |
2.07e-2 |
SMART |
|
ANK
|
116 |
145 |
1.61e-4 |
SMART |
|
ANK
|
149 |
178 |
6.46e-4 |
SMART |
|
ANK
|
180 |
208 |
2.02e3 |
SMART |
|
ANK
|
213 |
242 |
4.82e-3 |
SMART |
|
SOCS_box
|
275 |
314 |
1.54e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131320
AA Change: V27D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115921
Gene: ENSMUSG00000030509
AA Change: V27D
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
13 |
42 |
4.44e2 |
SMART |
|
ANK
|
46 |
75 |
2.68e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207210
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS 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. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
| Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
| Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
| Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
| Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
| Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
| Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
| Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
probably damaging |
Het |
|
| Other mutations in Asb7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0471:Asb7
|
UTSW |
7 |
66,328,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Asb7
|
UTSW |
7 |
66,309,882 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1937:Asb7
|
UTSW |
7 |
66,329,001 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2474:Asb7
|
UTSW |
7 |
66,328,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Asb7
|
UTSW |
7 |
66,328,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5541:Asb7
|
UTSW |
7 |
66,329,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6463:Asb7
|
UTSW |
7 |
66,309,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7421:Asb7
|
UTSW |
7 |
66,309,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Asb7
|
UTSW |
7 |
66,328,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Asb7
|
UTSW |
7 |
66,309,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8050:Asb7
|
UTSW |
7 |
66,328,932 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8145:Asb7
|
UTSW |
7 |
66,309,696 (GRCm39) |
missense |
probably benign |
|
|
R8326:Asb7
|
UTSW |
7 |
66,309,675 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9057:Asb7
|
UTSW |
7 |
66,309,395 (GRCm39) |
splice site |
probably benign |
|
|
R9425:Asb7
|
UTSW |
7 |
66,328,987 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
RF024:Asb7
|
UTSW |
7 |
66,297,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCATTTTCCACAAACGCC -3'
(R):5'- CCAGTCTTGTTGAACTGCTGTC -3'
Sequencing Primer
(F):5'- ACGCCAGCCCAGCTTTC -3'
(R):5'- GAACTGCTGTCTGTTACTGTCCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation