Incidental Mutation 'R5781:Asb15'
| ID |
447727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb15
|
| Ensembl Gene |
ENSMUSG00000029685 |
| Gene Name |
ankyrin repeat and SOCS box-containing 15 |
| Synonyms |
4930400E23Rik |
| MMRRC Submission |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24528143-24573163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24564377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 277
(H277L)
|
| 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: H277L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031696
Gene: ENSMUSG00000029685
AA Change: H277L
| 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: H277L
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112965
Gene: ENSMUSG00000029685
AA Change: H277L
| 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: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
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 |
|
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 |
|
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'- TGCTCAGCCATCTAAGCCAC -3'
(R):5'- AATACAGAAATGCCAGTTGGTG -3'
Sequencing Primer
(F):5'- AAACCCTGACTGCATCTC -3'
(R):5'- GGGGAAAGCTATGAAATCATTTCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation