Incidental Mutation 'R6984:Asb15'
| ID |
542834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| MMRRC Submission |
045091-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6984 (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 T
at 24566336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 430
(I430F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031696]
[ENSMUST00000117688]
|
| AlphaFold |
Q8VHS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031696
AA Change: I430F
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: I430F
| 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: I430F
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: I430F
| 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: 99.1%
- 20x: 96.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,937 (GRCm39) |
V676A |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,891,012 (GRCm39) |
M495T |
possibly damaging |
Het |
| Aktip |
A |
T |
8: 91,853,346 (GRCm39) |
F124I |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,438,749 (GRCm39) |
Q1348H |
possibly damaging |
Het |
| Apol11b |
T |
C |
15: 77,519,546 (GRCm39) |
D178G |
probably benign |
Het |
| Chd2 |
A |
C |
7: 73,134,159 (GRCm39) |
Y729* |
probably null |
Het |
| Cpb2 |
T |
C |
14: 75,502,898 (GRCm39) |
V159A |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,229,719 (GRCm39) |
S429G |
probably damaging |
Het |
| Ctsw |
C |
T |
19: 5,516,646 (GRCm39) |
R133H |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,485 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,958,712 (GRCm39) |
G2185R |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Enthd1 |
A |
T |
15: 80,444,309 (GRCm39) |
I82N |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,759,424 (GRCm39) |
D555V |
probably damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,351,823 (GRCm39) |
D1134A |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,702,734 (GRCm39) |
V82D |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,665,238 (GRCm39) |
F960I |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,696,898 (GRCm39) |
Y424* |
probably null |
Het |
| Hsd3b7 |
T |
A |
7: 127,400,717 (GRCm39) |
I57N |
probably damaging |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,702 (GRCm39) |
D94E |
possibly damaging |
Het |
| Ighv3-3 |
A |
G |
12: 114,160,350 (GRCm39) |
V20A |
possibly damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,126,433 (GRCm39) |
C220F |
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,101 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,753 (GRCm39) |
K632E |
unknown |
Het |
| Lama1 |
G |
A |
17: 68,086,107 (GRCm39) |
V1449M |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,740 (GRCm39) |
I336T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,712,640 (GRCm39) |
D3117E |
probably damaging |
Het |
| Lrrc4b |
A |
T |
7: 44,110,722 (GRCm39) |
E198V |
possibly damaging |
Het |
| Map2 |
A |
T |
1: 66,454,395 (GRCm39) |
D1095V |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,072 (GRCm39) |
S417T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,368 (GRCm39) |
V94A |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,593,734 (GRCm39) |
I637V |
probably benign |
Het |
| Mpp7 |
C |
T |
18: 7,441,623 (GRCm39) |
G182D |
probably damaging |
Het |
| Myh15 |
G |
A |
16: 48,930,775 (GRCm39) |
G583D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,380,021 (GRCm39) |
T750A |
probably benign |
Het |
| Or10d5b |
C |
T |
9: 39,886,030 (GRCm39) |
V30I |
unknown |
Het |
| Or10v5 |
T |
A |
19: 11,805,668 (GRCm39) |
T241S |
probably damaging |
Het |
| Or1e30 |
G |
A |
11: 73,678,603 (GRCm39) |
V280M |
possibly damaging |
Het |
| Pgm1 |
A |
T |
4: 99,786,851 (GRCm39) |
Q30L |
probably benign |
Het |
| Pi4kb |
C |
T |
3: 94,904,245 (GRCm39) |
R238C |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,527 (GRCm39) |
E3497G |
probably damaging |
Het |
| Plpp4 |
C |
T |
7: 128,992,616 (GRCm39) |
A218V |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,667,392 (GRCm39) |
A1094V |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,191 (GRCm39) |
D154V |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,171,429 (GRCm39) |
P341Q |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,270,697 (GRCm39) |
V21A |
possibly damaging |
Het |
| Rhot1 |
T |
A |
11: 80,124,310 (GRCm39) |
C157* |
probably null |
Het |
| Rnase9 |
C |
T |
14: 51,276,673 (GRCm39) |
V102M |
probably benign |
Het |
| Rpgrip1l |
A |
C |
8: 91,987,426 (GRCm39) |
M877R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,705,436 (GRCm39) |
Y806C |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Sympk |
A |
G |
7: 18,771,968 (GRCm39) |
D344G |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 71,914,041 (GRCm39) |
Q76* |
probably null |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,204,863 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,533 (GRCm39) |
D610E |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,047,209 (GRCm39) |
T701A |
possibly damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,186 (GRCm39) |
L30P |
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 |
|
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 |
|
|
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'- TGCAGACCCCAACTTGGATC -3'
(R):5'- AGTAGCCTTGATTCCTGGGC -3'
Sequencing Primer
(F):5'- AACTTGGATCCCCTCAACTG -3'
(R):5'- CTAGAGACAGCTACATCTGGGTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation