Incidental Mutation 'R0603:Asb15'
| ID |
55544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| MMRRC Submission |
038792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24556556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 17
(I17N)
|
| 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: I17N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: I17N
| 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: I17N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: I17N
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc7 |
A |
G |
5: 122,578,233 (GRCm39) |
N406S |
probably benign |
Het |
| Arhgap4 |
C |
T |
X: 72,950,389 (GRCm39) |
R54Q |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,914,039 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,627,146 (GRCm39) |
V47A |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,464,779 (GRCm39) |
V348A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,622,487 (GRCm39) |
K1073R |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,313,190 (GRCm39) |
H1686Y |
possibly damaging |
Het |
| Dzank1 |
C |
T |
2: 144,353,432 (GRCm39) |
V152I |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,792,105 (GRCm39) |
I221N |
possibly damaging |
Het |
| Evl |
T |
A |
12: 108,614,681 (GRCm39) |
I25N |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,271,699 (GRCm39) |
K424E |
probably damaging |
Het |
| Gm17732 |
C |
T |
18: 62,795,823 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,820,480 (GRCm39) |
I659T |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,442,400 (GRCm39) |
V1280E |
possibly damaging |
Het |
| Irs4 |
T |
C |
X: 140,508,071 (GRCm39) |
T42A |
probably damaging |
Het |
| Kdm4a |
C |
T |
4: 117,999,708 (GRCm39) |
V905I |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,444,980 (GRCm39) |
|
probably benign |
Het |
| Lsp1 |
G |
A |
7: 142,043,115 (GRCm39) |
R221H |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mmut |
A |
T |
17: 41,258,057 (GRCm39) |
I408F |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,343,073 (GRCm39) |
V942E |
probably benign |
Het |
| Neto1 |
T |
A |
18: 86,491,785 (GRCm39) |
C229S |
possibly damaging |
Het |
| Nipal2 |
A |
G |
15: 34,650,544 (GRCm39) |
I63T |
probably damaging |
Het |
| Or11g2 |
T |
C |
14: 50,855,967 (GRCm39) |
I96T |
probably damaging |
Het |
| Or1af1 |
G |
A |
2: 37,110,118 (GRCm39) |
V206I |
probably damaging |
Het |
| Or4k49 |
A |
T |
2: 111,495,225 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or7e165 |
A |
T |
9: 19,695,235 (GRCm39) |
R269W |
probably damaging |
Het |
| Or8g36 |
C |
A |
9: 39,422,810 (GRCm39) |
V69F |
possibly damaging |
Het |
| Pgpep1 |
T |
C |
8: 71,103,283 (GRCm39) |
E120G |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,187,397 (GRCm39) |
M3637K |
probably benign |
Het |
| Pkm |
T |
C |
9: 59,573,164 (GRCm39) |
V58A |
probably damaging |
Het |
| Ppp2r1b |
C |
A |
9: 50,772,985 (GRCm39) |
T154K |
probably damaging |
Het |
| Rgs18 |
T |
A |
1: 144,631,818 (GRCm39) |
D98V |
possibly damaging |
Het |
| Rsph6a |
G |
T |
7: 18,799,886 (GRCm39) |
A506S |
possibly damaging |
Het |
| Selenop |
T |
A |
15: 3,305,183 (GRCm39) |
V113E |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,221,851 (GRCm39) |
V514M |
probably benign |
Het |
| Srsf9 |
C |
T |
5: 115,470,696 (GRCm39) |
S132L |
probably damaging |
Het |
| Tchh |
G |
A |
3: 93,351,088 (GRCm39) |
R176H |
possibly damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,784 (GRCm39) |
N405S |
probably damaging |
Het |
| Tle1 |
A |
C |
4: 72,036,584 (GRCm39) |
D760E |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,252,488 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trabd |
G |
A |
15: 88,966,929 (GRCm39) |
E118K |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,499 (GRCm39) |
D115G |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,778,379 (GRCm39) |
M920K |
possibly damaging |
Het |
| Uba2 |
A |
T |
7: 33,861,038 (GRCm39) |
M5K |
probably damaging |
Het |
| Unc5c |
C |
T |
3: 141,476,863 (GRCm39) |
P343L |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,501,043 (GRCm39) |
D453G |
probably damaging |
Het |
| Wfdc8 |
A |
G |
2: 164,445,145 (GRCm39) |
Y157H |
probably damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,757 (GRCm39) |
K432Q |
probably benign |
Het |
| Zeb2 |
G |
A |
2: 44,907,438 (GRCm39) |
T169M |
probably benign |
Het |
| Zfp956 |
A |
G |
6: 47,932,962 (GRCm39) |
E79G |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,708,895 (GRCm39) |
V165I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGGAGACAGAACTGCAAAGTCAC -3'
(R):5'- CACTGTCCTCACAAATGTGTTCAAACTC -3'
Sequencing Primer
(F):5'- TCACAGGTAGAGGACATAGACATTC -3'
(R):5'- AGCTGTGGATTTCCCACTTAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation