Incidental Mutation 'R6369:Asb18'
| ID |
512829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asb18
|
| Ensembl Gene |
ENSMUSG00000067081 |
| Gene Name |
ankyrin repeat and SOCS box-containing 18 |
| Synonyms |
|
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89880313-89942388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89942193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 36
(I36N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086882]
[ENSMUST00000097656]
[ENSMUST00000151330]
[ENSMUST00000154228]
|
| AlphaFold |
Q8VHA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086882
AA Change: I36N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084095
Gene: ENSMUSG00000067081
AA Change: I36N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
3e-8 |
BLAST |
|
ANK
|
119 |
148 |
5.32e-5 |
SMART |
|
ANK
|
151 |
180 |
1.99e-4 |
SMART |
|
ANK
|
184 |
213 |
3.26e2 |
SMART |
|
ANK
|
218 |
247 |
3.95e1 |
SMART |
|
ANK
|
251 |
289 |
1.96e3 |
SMART |
|
ANK
|
293 |
322 |
6.61e-1 |
SMART |
|
Blast:ANK
|
329 |
365 |
1e-12 |
BLAST |
|
SOCS_box
|
422 |
461 |
4.5e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097656
AA Change: I36N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000095261
Gene: ENSMUSG00000067081
AA Change: I36N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-8 |
BLAST |
|
SOCS_box
|
158 |
197 |
4.5e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151330
AA Change: I36N
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117836
Gene: ENSMUSG00000067081
AA Change: I36N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154228
AA Change: I36N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117767
Gene: ENSMUSG00000067081
AA Change: I36N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
15 |
44 |
9e-9 |
BLAST |
|
ANK
|
78 |
107 |
5.32e-5 |
SMART |
|
ANK
|
110 |
139 |
1.99e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.3668 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,055,605 (GRCm39) |
R571* |
probably null |
Het |
| Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,161,984 (GRCm39) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,220,315 (GRCm39) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,531,765 (GRCm39) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,735,848 (GRCm39) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,839,073 (GRCm39) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,994,984 (GRCm39) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,848,381 (GRCm39) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,165,200 (GRCm39) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,585,020 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,957,678 (GRCm39) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
C |
14: 45,537,415 (GRCm39) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,212 (GRCm39) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,832,029 (GRCm39) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,249,723 (GRCm39) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,713,734 (GRCm39) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,411,427 (GRCm39) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,102,196 (GRCm39) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,693 (GRCm39) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,355 (GRCm39) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,618,209 (GRCm39) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,394,259 (GRCm39) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,408,071 (GRCm39) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,381 (GRCm39) |
L172P |
probably damaging |
Het |
| Or2g1 |
T |
G |
17: 38,106,387 (GRCm39) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,598,324 (GRCm39) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,048,045 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,889,840 (GRCm39) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,891,168 (GRCm39) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 115,968,386 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,267,954 (GRCm39) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,340,738 (GRCm39) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,256,359 (GRCm39) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,125,954 (GRCm39) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,095,909 (GRCm39) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,053,962 (GRCm39) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,008,483 (GRCm39) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,837,490 (GRCm39) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,782,196 (GRCm39) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,799,982 (GRCm39) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,676 (GRCm39) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 79,999,791 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm39) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,456,387 (GRCm39) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,965,320 (GRCm39) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,767,583 (GRCm39) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,410,308 (GRCm39) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,907,831 (GRCm39) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 72,465,574 (GRCm39) |
R189H |
possibly damaging |
Homo |
|
| Other mutations in Asb18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Asb18
|
APN |
1 |
89,923,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01559:Asb18
|
APN |
1 |
89,882,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Asb18
|
APN |
1 |
89,924,021 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02378:Asb18
|
APN |
1 |
89,920,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Asb18
|
APN |
1 |
89,942,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02828:Asb18
|
APN |
1 |
89,923,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02877:Asb18
|
APN |
1 |
89,880,533 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03290:Asb18
|
APN |
1 |
89,942,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0560:Asb18
|
UTSW |
1 |
89,942,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Asb18
|
UTSW |
1 |
89,920,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Asb18
|
UTSW |
1 |
89,924,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Asb18
|
UTSW |
1 |
89,923,976 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1721:Asb18
|
UTSW |
1 |
89,896,302 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1793:Asb18
|
UTSW |
1 |
89,942,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Asb18
|
UTSW |
1 |
89,942,104 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2171:Asb18
|
UTSW |
1 |
89,896,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Asb18
|
UTSW |
1 |
89,942,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3052:Asb18
|
UTSW |
1 |
89,920,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Asb18
|
UTSW |
1 |
89,920,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3427:Asb18
|
UTSW |
1 |
89,896,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4094:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Asb18
|
UTSW |
1 |
89,896,243 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4405:Asb18
|
UTSW |
1 |
89,896,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4815:Asb18
|
UTSW |
1 |
89,942,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Asb18
|
UTSW |
1 |
89,880,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5287:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5403:Asb18
|
UTSW |
1 |
89,942,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5494:Asb18
|
UTSW |
1 |
89,882,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Asb18
|
UTSW |
1 |
89,920,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Asb18
|
UTSW |
1 |
89,882,184 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5826:Asb18
|
UTSW |
1 |
89,942,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7474:Asb18
|
UTSW |
1 |
89,920,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7751:Asb18
|
UTSW |
1 |
89,896,206 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8707:Asb18
|
UTSW |
1 |
89,920,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Asb18
|
UTSW |
1 |
89,880,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9253:Asb18
|
UTSW |
1 |
89,882,185 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCACCCTGTTGGAACCC -3'
(R):5'- AGCCCTGATTCTATTTATAGCCATCTG -3'
Sequencing Primer
(F):5'- GTTGGAACCCTTGCCCCTG -3'
(R):5'- CATCTGTCCTGCTCTGGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation