Incidental Mutation 'BB002:Asb15'
| ID |
642161 |
| 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 # |
BB002
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24562723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 228
(H228Q)
|
| 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: H228Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: H228Q
| 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: H228Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: H228Q
| 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: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
| 4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
| A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
| Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
| Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
| Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
| Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
| Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
| Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
| Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
| Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
| Gm8126 |
A |
G |
14: 43,119,023 (GRCm39) |
N164S |
probably damaging |
Het |
| Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
| Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
| Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
| Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
| Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
| Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
| Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
| Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
| Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
| Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
| Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
| Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
| Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
| Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
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 |
|
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 |
|
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'- ATGACATGGTCTCTGCACTG -3'
(R):5'- GAGCTGGTCTTGCAGATCTTTC -3'
Sequencing Primer
(F):5'- GGTCTCTGCACTGATTAAATACAAC -3'
(R):5'- CTTTCTTGGTCATAATGAATCGAGC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation