Incidental Mutation 'IGL02541:Asb15'
ID |
298231 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Asb15
|
Ensembl Gene |
ENSMUSG00000029685 |
Gene Name |
ankyrin repeat and SOCS box-containing 15 |
Synonyms |
4930400E23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02541
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24566265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 406
(V406D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
AlphaFold |
Q8VHS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031696
AA Change: V406D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031696 Gene: ENSMUSG00000029685 AA Change: V406D
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117688
AA Change: V406D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112965 Gene: ENSMUSG00000029685 AA Change: V406D
Domain | Start | End | E-Value | Type |
ANK
|
110 |
139 |
1.59e-3 |
SMART |
ANK
|
143 |
172 |
2.97e-3 |
SMART |
ANK
|
176 |
205 |
1.93e-2 |
SMART |
ANK
|
209 |
238 |
2.1e-3 |
SMART |
ANK
|
242 |
273 |
5.01e-1 |
SMART |
ANK
|
275 |
304 |
2.63e2 |
SMART |
ANK
|
307 |
336 |
1.99e-4 |
SMART |
ANK
|
349 |
378 |
5.24e-4 |
SMART |
ANK
|
379 |
408 |
1.27e-2 |
SMART |
ANK
|
417 |
444 |
2.35e3 |
SMART |
SOCS_box
|
534 |
576 |
2.34e-11 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of cytokine signaling box superfamily. The proteins in this superfamily participate in the ubiquitin-proteasome system for the degradation of proteins in the cell cycle and signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,120,988 (GRCm39) |
I356T |
probably benign |
Het |
Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
Gm14496 |
G |
A |
2: 181,642,186 (GRCm39) |
R619Q |
probably benign |
Het |
Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
Pals2 |
A |
G |
6: 50,160,707 (GRCm39) |
I323V |
probably benign |
Het |
Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
Rad17 |
A |
G |
13: 100,769,951 (GRCm39) |
|
probably benign |
Het |
Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
Supt6 |
G |
A |
11: 78,117,744 (GRCm39) |
R491C |
probably damaging |
Het |
Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
probably damaging |
Het |
|
Other mutations in Asb15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Asb15
|
APN |
6 |
24,558,642 (GRCm39) |
splice site |
probably benign |
|
IGL00557:Asb15
|
APN |
6 |
24,558,649 (GRCm39) |
missense |
probably benign |
|
IGL00694:Asb15
|
APN |
6 |
24,570,663 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01137:Asb15
|
APN |
6 |
24,556,521 (GRCm39) |
missense |
probably benign |
|
IGL01681:Asb15
|
APN |
6 |
24,567,137 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01691:Asb15
|
APN |
6 |
24,567,271 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01791:Asb15
|
APN |
6 |
24,567,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Asb15
|
APN |
6 |
24,565,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02480:Asb15
|
APN |
6 |
24,570,745 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02707:Asb15
|
APN |
6 |
24,558,787 (GRCm39) |
splice site |
probably benign |
|
IGL03090:Asb15
|
APN |
6 |
24,567,185 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL03331:Asb15
|
APN |
6 |
24,556,523 (GRCm39) |
missense |
possibly damaging |
0.70 |
3-1:Asb15
|
UTSW |
6 |
24,566,220 (GRCm39) |
missense |
probably benign |
0.00 |
BB002:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
BB012:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R0196:Asb15
|
UTSW |
6 |
24,564,392 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Asb15
|
UTSW |
6 |
24,556,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Asb15
|
UTSW |
6 |
24,566,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R1114:Asb15
|
UTSW |
6 |
24,567,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Asb15
|
UTSW |
6 |
24,562,486 (GRCm39) |
splice site |
probably benign |
|
R1365:Asb15
|
UTSW |
6 |
24,567,269 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2323:Asb15
|
UTSW |
6 |
24,556,600 (GRCm39) |
missense |
probably benign |
0.01 |
R3147:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R3148:Asb15
|
UTSW |
6 |
24,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4762:Asb15
|
UTSW |
6 |
24,567,236 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4771:Asb15
|
UTSW |
6 |
24,570,621 (GRCm39) |
missense |
probably damaging |
0.99 |
R4915:Asb15
|
UTSW |
6 |
24,566,292 (GRCm39) |
missense |
probably damaging |
0.96 |
R5369:Asb15
|
UTSW |
6 |
24,562,563 (GRCm39) |
missense |
probably benign |
0.00 |
R5415:Asb15
|
UTSW |
6 |
24,570,690 (GRCm39) |
missense |
probably benign |
0.05 |
R5781:Asb15
|
UTSW |
6 |
24,564,377 (GRCm39) |
missense |
probably benign |
0.11 |
R6649:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6653:Asb15
|
UTSW |
6 |
24,562,632 (GRCm39) |
missense |
probably benign |
|
R6781:Asb15
|
UTSW |
6 |
24,558,674 (GRCm39) |
missense |
probably benign |
|
R6984:Asb15
|
UTSW |
6 |
24,566,336 (GRCm39) |
missense |
probably benign |
0.17 |
R7297:Asb15
|
UTSW |
6 |
24,566,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R7340:Asb15
|
UTSW |
6 |
24,558,513 (GRCm39) |
missense |
probably benign |
0.00 |
R7419:Asb15
|
UTSW |
6 |
24,556,555 (GRCm39) |
missense |
probably benign |
0.08 |
R7549:Asb15
|
UTSW |
6 |
24,559,029 (GRCm39) |
splice site |
probably null |
|
R7662:Asb15
|
UTSW |
6 |
24,566,089 (GRCm39) |
missense |
probably benign |
0.08 |
R7717:Asb15
|
UTSW |
6 |
24,559,251 (GRCm39) |
missense |
probably benign |
|
R7767:Asb15
|
UTSW |
6 |
24,559,281 (GRCm39) |
missense |
probably benign |
|
R7781:Asb15
|
UTSW |
6 |
24,562,644 (GRCm39) |
missense |
probably benign |
0.01 |
R7797:Asb15
|
UTSW |
6 |
24,562,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R7847:Asb15
|
UTSW |
6 |
24,564,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7925:Asb15
|
UTSW |
6 |
24,562,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8055:Asb15
|
UTSW |
6 |
24,556,565 (GRCm39) |
missense |
probably benign |
0.05 |
R8304:Asb15
|
UTSW |
6 |
24,559,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8694:Asb15
|
UTSW |
6 |
24,570,666 (GRCm39) |
missense |
probably benign |
0.00 |
R9268:Asb15
|
UTSW |
6 |
24,566,298 (GRCm39) |
missense |
probably benign |
|
Z1176:Asb15
|
UTSW |
6 |
24,566,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |