Incidental Mutation 'R1114:Asb15'
| ID |
97024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| MMRRC Submission |
039187-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24567176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 499
(R499H)
|
| 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: R499H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: R499H
| 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: R499H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: R499H
| 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 |
|
| Meta Mutation Damage Score |
0.2249 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.5%
- 20x: 84.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
T |
A |
9: 8,222,179 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
T |
A |
10: 106,824,740 (GRCm39) |
R422S |
possibly damaging |
Het |
| Aspm |
C |
T |
1: 139,389,662 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
G |
A |
3: 126,633,941 (GRCm39) |
V488M |
probably damaging |
Het |
| Cd247 |
A |
G |
1: 165,616,407 (GRCm39) |
K4E |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,739 (GRCm39) |
D522G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,783,123 (GRCm39) |
|
probably benign |
Het |
| Dctn2 |
T |
A |
10: 127,114,011 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
A |
T |
9: 24,336,072 (GRCm39) |
F545I |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,287,643 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,540 (GRCm39) |
T719S |
possibly damaging |
Het |
| Dusp12 |
A |
C |
1: 170,708,586 (GRCm39) |
V48G |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,452 (GRCm39) |
R159* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw20 |
A |
G |
9: 109,052,550 (GRCm39) |
V261A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,814 (GRCm39) |
R953L |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,873 (GRCm39) |
E652G |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,671 (GRCm39) |
R363* |
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,667,770 (GRCm39) |
D1089G |
probably benign |
Het |
| Luc7l |
T |
C |
17: 26,494,832 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,746,568 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,358,289 (GRCm39) |
T392A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,277,166 (GRCm39) |
V921A |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,651 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,711 (GRCm39) |
I74F |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,179,983 (GRCm39) |
|
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,453,425 (GRCm39) |
I178V |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,486 (GRCm39) |
C1554* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,960,867 (GRCm39) |
C24R |
probably damaging |
Het |
| Scamp2 |
T |
A |
9: 57,488,863 (GRCm39) |
I188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,759,013 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,914,262 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
G |
T |
7: 107,024,562 (GRCm39) |
V152F |
possibly damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,304 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,261 (GRCm39) |
I831T |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,727,515 (GRCm39) |
H196N |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,248,144 (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 |
|
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'- TGTTCACTGTGATCCCAACAGAAGC -3'
(R):5'- acacacacacacacacacacTAAGC -3'
Sequencing Primer
(F):5'- TCCCAACAGAAGCATGAAAGTG -3'
(R):5'- TGGCGTATTTCTGGCCATT -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation