Incidental Mutation 'R7717:Asb15'
| ID |
594970 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24559251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 132
(D132G)
|
| 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: D132G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: D132G
| 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: D132G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: D132G
| 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: 99.9%
- 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
| Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
| Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
| Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
| Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
| Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
| Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
| Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly 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 |
|
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 |
|
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'- CCAGGCTGGTAGAAAGTGAC -3'
(R):5'- TCACGGGCAGGTGAAATATG -3'
Sequencing Primer
(F):5'- CCATGTGTGATTGACAAAAGTGTGTC -3'
(R):5'- CAGGTGAAATATGGCTGGGAGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation