Incidental Mutation 'R8055:Asb15'
| ID |
619311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| MMRRC Submission |
067492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24556565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 20
(C20F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
| AlphaFold |
Q8VHS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031696
AA Change: C20F
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: C20F
| 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 benign
Transcript: ENSMUST00000117688
AA Change: C20F
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: C20F
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
C |
A |
3: 92,336,139 (GRCm39) |
G188W |
unknown |
Het |
| Ahcyl1 |
A |
T |
3: 107,576,047 (GRCm39) |
D353E |
probably benign |
Het |
| Alk |
G |
T |
17: 72,206,252 (GRCm39) |
P1033T |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,913 (GRCm39) |
N51S |
possibly damaging |
Het |
| Ccser1 |
G |
A |
6: 61,290,757 (GRCm39) |
V480M |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,905 (GRCm39) |
N1184D |
probably benign |
Het |
| Cers6 |
C |
T |
2: 68,777,625 (GRCm39) |
R111W |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,615,273 (GRCm39) |
D204E |
probably damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,107,763 (GRCm39) |
V73A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,032 (GRCm39) |
N593S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,069,168 (GRCm39) |
N47K |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,636,015 (GRCm39) |
T46A |
probably benign |
Het |
| Gm15217 |
T |
C |
14: 46,616,911 (GRCm39) |
|
probably benign |
Het |
| Gnb5 |
G |
T |
9: 75,250,826 (GRCm39) |
A317S |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,722 (GRCm39) |
V304A |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,633,424 (GRCm39) |
C209* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,732,378 (GRCm39) |
N2646K |
unknown |
Het |
| Krt14 |
C |
G |
11: 100,095,584 (GRCm39) |
V274L |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,186 (GRCm39) |
D1277V |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,814,743 (GRCm39) |
E2226D |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,120,255 (GRCm39) |
V631A |
possibly damaging |
Het |
| Piezo2 |
G |
A |
18: 63,175,882 (GRCm39) |
S1833L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,359 (GRCm39) |
V203A |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,032,197 (GRCm39) |
D459G |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,634,749 (GRCm39) |
R3631S |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,001 (GRCm39) |
T558A |
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,997,724 (GRCm39) |
R566Q |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,498,191 (GRCm39) |
S3A |
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,595,284 (GRCm39) |
I1319N |
probably benign |
Het |
| Sbno2 |
T |
A |
10: 79,905,265 (GRCm39) |
I206F |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,149,845 (GRCm39) |
V944A |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,226 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
G |
A |
19: 6,021,439 (GRCm39) |
A521V |
probably benign |
Het |
| Slc6a4 |
C |
A |
11: 76,901,424 (GRCm39) |
T53K |
probably benign |
Het |
| Snapc2 |
G |
A |
8: 4,304,322 (GRCm39) |
R75Q |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,884,351 (GRCm39) |
K662I |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,438 (GRCm39) |
S55P |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,753 (GRCm39) |
V1503D |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,437,474 (GRCm39) |
N277K |
probably benign |
Het |
| Tlx3 |
A |
T |
11: 33,151,283 (GRCm39) |
V291E |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,747,327 (GRCm39) |
H101Q |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,495,343 (GRCm39) |
D70E |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,803,924 (GRCm39) |
G1938C |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,014,828 (GRCm39) |
L190P |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,541 (GRCm39) |
S641C |
possibly damaging |
Het |
| Wnt8b |
A |
G |
19: 44,481,952 (GRCm39) |
|
probably benign |
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 |
|
IGL02541:Asb15
|
APN |
6 |
24,566,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCTGCATGCATGGATTAAGATC -3'
(R):5'- AACAAATTCAGCTGTGGATTTCCC -3'
Sequencing Primer
(F):5'- ATTTGTGTGTATTTACCGAGAGAAG -3'
(R):5'- CACGAGATGCATATTTGTAGAACAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation